Assessment of genotyping markers in the molecular characterization of a population of clinical isolates of Fusarium in Colombia / Evaluación de marcadores de genotipificación en la caracterización molecular de una población de aislamientos clínicos de Fusarium en Colombia

Introduction: Fusarium is a very heterogeneous group of fungi, difficult to classify, with a wide range of living styles, acting as saprophytes, parasites of plants, or pathogens for humans and animals. Prevalence of clinical fusariosis and lack of effective treatments have increased the interest in the precise diagnosis, which implies a molecular characterization of Fusarium populations. Objective: We compared different genotyping markers in their assessment of the genetic variability and molecular identification of clinical isolates of Fusarium. Materials and methods: We evaluated the performance of the fingerprinting produced by two random primers: M13, which amplifies a minisatellite sequence, and (GACA)4, which corresponds to a simple repetitive DNA sequence. Using the Hunter Gaston Discriminatory Index (HGDI), an analysis of molecular variance (AMOVA), and a Mantel test, the resolution of these markers was compared to the reference sequencing-based and PCR genotyping methods. Results: The highest HGDI value was associated with the M13 marker followed by (GACA)4. AMOVA and the Mantel tests supported a strong correlation between the M13 classification and the reference method given by the partial sequencing of the transcription elongation factor 1-alpha (TEF1-α) and rDNA 28S. Conclusion: The strong correlation between the M13 classification and the sequencing-based reference together with its higher resolution demonstrates its adequacy for the characterization of Fusarium populations.

Introducción. Fusarium es un grupo heterogéneo de hongos, difícil de clasificar y con una amplia gama de estilos de vida, que actúa como saprófito, parásito de plantas o patógeno de humanos y animales. La prevalencia de la fusariosis clínica y la falta de tratamientos han incrementado el interés en su diagnóstico preciso, lo que conlleva la caracterización molecular de las poblaciones. Objetivo. Comparar marcadores de genotipificación en la evaluación de la variabilidad genética e identificación de aislamientos clínicos de Fusarium. Materiales y métodos. Se evaluó la huella genética producida por dos cebadores aleatorios: M13, que amplifica una secuencia minisatélite, y (GACA)4, que corresponde a una secuencia repetitiva de ADN. Utilizando el índice discriminatorio de Hunter Gaston (HGDI), el análisis de varianza molecular (AMOVA) y una prueba de Mantel, se comparó la resolución de estos marcadores con métodos de genotipificación basados en secuenciación y PCR. Resultados. El mayor HGDI se asoció con el marcador M13, seguido de (GACA)4. Las pruebas AMOVA y Mantel mostraron correlación entre las clasificaciones obtenidas con M13 y la referencia basada en la secuenciación parcial del factor de elongación de transcripción 1-alfa (TEF1-α) y el ADNr 28S. Conclusión. La fuerte correlación entre la clasificación obtenida con M13 y el método de referencia, así como su alta resolución, demuestran su idoneidad para la caracterización de poblaciones de Fusarium.

Genetic diversity analysis of forty-three insertion/deletion loci for forensic individual identification in Han Chinese from Beijing based on a novel panel / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

Due to the virtues of no stutter peaks, low rates of mutation, and short amplicon sizes, insertion/deletion (InDel) polymorphism is an indispensable tool for analyzing degraded DNA samples from crime scenes for human identifications (Wang et al., 2021). Herein, a self-developed panel of 43 InDel loci constructed previously by our group was utilized to evaluate the genetic diversities and explore the genetic background of the Han Chinese from Beijing (HCB) including 301 random healthy individuals. The lengths of amplicons at 43 InDel loci in this panel ranged from 87 to 199 bp, which indicated that the panel could be used as an effective tool to utilize highly degraded DNA samples for human identity testing. The loci in this panel were validated and performed well for forensic degraded DNA samples (Jin et al., 2021). The combined discrimination power (PD) and combined probability of exclusion (PE) values in this panel indicated that the 43 InDel loci could be used as the candidate markers in personal identification and parentage testing of HCB. In addition, population genetic relationships between the HCB and 26 reference populations from five continents based on 19 overlapped InDel loci were displayed by constructing a phylogenetic tree, principal component analysis (PCA), and population genetic structure analysis. The results illustrated that the HCB had closer genetic relationships with the Han populations from Chinese different regions.

Development of microsatellite loci and population genetics in the bumblebee catfish species Pseudopimelodus atricaudus and Pseudopimelodus magnus (Siluriformes: Pseudopimelodidae)

The Neotropical freshwater catfish Pseudopimelodus atricaudus and Pseudopimelodus magnus are two recently discovered species endemic to the Colombian Magdalena-Cauca River basin. In this study, a set of 13 microsatellite loci were developed by using next generation sequence technology to assess the genetic diversity and population structure in P. atricaudus and test for cross-species amplification in P. magnus. Both species exhibited high genetic diversity (P. atricaudus: Na: 9.000 - 9.769 alleles/locus, Ho: 0.760 - 0.804, HE: 0.804 - 0.840; P. magnus: Na: 12.8 - 5.4 alleles/locus, Ho: 0.638 - 0.683, HE: 0.747 - 0.755) compared to the mean levels of genetic diversity reported for Neotropical Siluriformes, and lack of genetic differentiation among sampling sites within the Cauca River (P. atricaudus: F'ST=0.013 - 0.017, P > 0.05, D'est= -0.004 - 0.023, P > 0.05; P. magnus: F'ST= 0.031, P= 0.055; D'est= 0.045, P= 0.058). This work is the first insight on the diversity and the population genetics of species of the family Pseudopimelodidae and provides a framework to further population genetic and conservation analyses needed in this poorly studied family at the microevolutionary level.(AU)

Los bagres neotropicales Pseudopimelodus atricaudus y Pseudopimelodus magnus son dos especies recientemente descubiertas, endémicas de la cuenca Magdalena-Cauca en Colombia. En este estudio, se desarrollaron 13 loci microsatélites usando tecnología de secuenciación de próxima generación para evaluar la diversidad genética y la estructura poblacional de P. atricaudus y evaluar su amplificación cruzada en P. magnus. Ambas especies exhibieron altos valores de diversidad genética (P. atricaudus: Na: 9.000 - 9.769 alelos/locus, HO: 0.760 - 0.804, HE: 0.804 - 0.840; P. magnus: Na: 12.8 - 5.4 alelos/locus, HO: 0.638 - 0.683, HE: 0.747 - 0.755) comparados con los valores promedios de diversidad genética reportados para Siluriformes neotropicales, y ausencia de estructura genética entre los sitios analizados (P. atricaudus: F'ST= 0.013 - 0.017, P > 0.05, D'est= -0.004 - 0.023, P > 0.05; P. magnus: F'ST= 0.031, P= 0.055; D'est= 0.045, P= 0.058). Este trabajo representa la primera aproximación a la diversidad y genética poblacional de especies de la familia Pseudopimelodidae y proporciona un marco de referencia para futuros estudios genético-poblacionales y de conservación, requeridos en esta familia de bagres poco estudiada en el nivel microevolutivo.(AU)

Development of microsatellite loci and population genetics of the catfish Pimelodus yuma (Siluriformes: Pimelodidae)

Pimelodus yuma (formerly Pimelodus blochii) is a freshwater fish, endemic to the Colombian Magdalena-Cauca and Caribbean basins that experiences habitat disturbances resulting from anthropogenic activities. Due to the lack of information about the population genetics of this species, this study developed 14 species-specific microsatellite loci to assess the genetic diversity and population structure of samples from the lower section of the Cauca River. The studied species showed genetic diversity levels higher than the average values reported for Neotropical Siluriformes and significant inbreeding levels as was described for some congeners. Furthermore, P. yuma comprises two coexisting genetic groups that exhibit gene flow along the lower section of the Cauca River. This information constitutes a baseline for future monitoring of the genetic diversity and population structure in an anthropic influenced sector of the Magdalena-Cauca basin.(AU)

Pimelodus yuma (anteriormente Pimelodus blochii) es un pez dulceacuícola endémico de las cuencas colombianas Magdalena-Cauca y Caribe que experimenta alteraciones del hábitat como resultado de actividades antropogénicas. Debido a la falta de información sobre la genética poblacional de esta especie, este estudio desarrolló 14 loci microsatélites especie-específicos para evaluar la diversidad genética y la estructura poblacional de muestras de la sección baja del río Cauca. La especie estudiada mostró niveles de diversidad genética más altos que los valores promedio reportados para Siluriformes neotropicales y niveles de endogamia significativos como se describió para algunos congéneres. Además, P. yuma comprende dos grupos genéticos coexistentes que exhiben flujo de genes a lo largo de la sección baja del río Cauca. Esta información constituye una línea base para futuros monitoreos de la diversidad genética y la estructura poblacional en un sector de influencia antrópica de la cuenca Magdalena-Cauca.(AU)

Population genetics of three threatened catfish species in heterogeneous environments of the Cauca River, Colombia

Neotropical catfishes Ageneiosus pardalis, Pimelodus grosskopfii and Sorubim cuspicaudus are migratory fishes of commercial importance that exhibit decreasing populations due to overfishing and other anthropic interventions. This study used species-specific microsatellite loci to test the hypothesis that threatened fish populations show genetic vulnerability signs and are genetically structured in the middle and lower sections of the Cauca River. The studied species exhibit genetic diversity levels higher than the average values reported for Neotropical Siluriformes; however, they seem to have suffered recent bottlenecks and they present significant endogamy levels that are higher for the critically endangered catfish P. grosskopfii. Furthermore, both Ageneiosus pardalis and S. cuspicaudus are each formed by one genetic group, while Pimelodus grosskopfii comprises two coexisting genetic groups. The information obtained in this study is useful for the decision making in management plans that are appropriate for the sustainability of these three species populations within the proposal for the expansion of the hydroelectric development and other anthropic activities.(AU)

Los bagres Neotropicales Ageneiosus pardalis, Pimelodus grosskopfii y Sorubim cuspicaudus, son peces migratorios de importancia comercial cuyas poblaciones han disminuido debido a la sobrepesca y otras intervenciones antrópicas. En este trabajo, se utilizaron loci microsatélites especie-específicos para contrastar la hipótesis de que las poblaciones de peces amenazadas muestran señales de vulnerabilidad genética y están genéticamente estructuradas en los sectores medio y bajo del río Cauca. Las especies estudiadas exhiben niveles de diversidad genética superiores a los promedios reportados para Siluriformes Neotropicales; sin embargo, parecen haber sufrido cuellos de botella recientes y presentan niveles significativos de endogamia que son más altos para el bagre en peligro crítico, P. grosskopfii. Además, Ageneiosus pardalis y S. cuspicaudus están conformados cada uno por un solo grupo genético, mientras que Pimelodus grosskopfii comprende dos grupos genéticos que coexisten. La información obtenida en este estudio es útil para la toma de decisiones en planes de manejo que sean adecuados para la sostenibilidad de las poblaciones de estas tres especies de bagre dentro de las propuestas para la expansión de desarrollo hidroeléctrico y otras actividades antrópicas.(AU)

Genetic polymorphism of 23 autosomal STR loci in Han population from Yuncheng, Shanxi Province / 中南大学学报(医学版)

OBJECTIVES@#Due to the genetic feature of high diversity than other DNA markers, short tandem repeat (STR) plays key roles in forensic, anthropology, and population genetics. Newly introduced multiple STR kit is more valuable because of the greatly improved discriminatory power with the increase in the number of STR loci. The genetic polymorphic data are essential for the application and research in specific population. This study aims to investigate the genetic polymorphism of Han population residing in Yuncheng district, Shanxi Province, to evaluate the application of 23 STR loci in forensic personal identification and paternity test, and to explore the genetic relationship of Han population between Yuncheng and other populations.@*METHODS@#A total of 23 STR loci were amplified from 525 healthy unrelated individuals from the Han nationality in Yuncheng, Shanxi Province using the AGCU EX25 amplification kit. The products were detected and separated by ABI 3500 Genetic Analyzer. Alleles were genotyped by GeneMapper ID (Version 3.2) software, and corresponding frequencies and forensic parameters were calculated. We calculated the genetic distance and plotted the neighboring-joining tree with other 13 population.@*RESULTS@#The allele frequency of the 23 STRs ranged from 0.0010 to 0.5090. No deviation from Hardy-Weinberg equilibrium (@*CONCLUSIONS@#These 23 STRs are highly genetic polymorphic and informative in the Han population of Yuncheng, Shanxi Province, which can provide basic data for forensic personal identification, paternity testing, and population genetic research.

Genetic polymorphisms of 21 non-combined of DNA index system short tandem repeat loci in Hainan Li population / 中华医学遗传学杂志

OBJECTIVE@#To investigate the genetic polymorphisms of 21 non-combined DNA index system short tandem repeat (STR) loci in Hainan Li population.@*METHODS@#DNA samples from 339 unrelated healthy individuals of Li population from Hainan Province were extracted and amplified with fluorescence labeled multiplex PCR system. PCR products were electrophoresed on an ABI3130 Genetic Analyzer following the manufacturer's instructions. Allele designation was performed with a GeneMapper ID-X by comparison with the allele ladder provided by the corresponding kit.@*RESULTS@#A total of 173 alleles and 489 genotypes were observed for the 21 STR loci, respectively. The frequencies of alleles and genotypes were 0.0010-0.5434 and 0.0020-0.3274, respectively. The heterozygosity varied from 0.639 to 0.833. Discrimination power (DP) was 0.803-0.948, power of exclusion for trio-paternity was 0.416-0.584, power of exclusion for duo-paternity was 0.140-0.238, the polymorphism information content(PIC) was 0.57-0.81, respectively. The total discrimination power (TDP), cumulative probability of exclusion for trio-paternity testing(CPE-trio) and cumulative probability of exclusion for duo-paternity testing (CPE-duo) were 0.999 999 999 999 99, 0.999 999 883 211 752, and 0.987 266, respectively.@*CONCLUSION@#The 21 STR loci are highly polymorphic and informative in the studied population and can be employed as supplementary loci in duo-paternity testing or cases with variant circumstances.

Transferability of heterologous primers in Brycon falcatus

The genus Bryconcomprises fish species of significant socioeconomic and biological importance in Brazil. Despite that, the genetic knowledge about these species is scarce, especially regardingBrycon falcatus. Thus, the objective of this study was to evaluate the transferability of heterologous microsatellite primers inB. falcatus for the first time. Heterologous primers obtained from B. opalinus, B. hilarii, B. insignis, B. orbignyanus, B. amazonicus, Prochilodus argenteus, Prochilodus lineatus, Piaractus mesopotamicus, and Colossoma macropomum were evaluated. The primers that showed the best amplification patterns were applied to a sample of 22 individuals and the genetic parameters were calculated. Nine primers displayed satisfactory cross-amplification withB. falcatus: BoM5 (Brycon opalinus); Bh8, Bh13 and Bh16 (B. hilarii); Borg59 (B. orbignyanus); Bag22 (B. amazonicus); Par12 and Par80 (P. argenteus), and Cm1A8 (C. macropomum). The genetic parameters (number of alleles, effective alleles, allele richness, and expected and observed heterozygosity) and the polymorphic information content (PIC) confirmed the viability of these primers for population genetics analyses. Our study demonstrates the potential of transferability of microsatellite markers from related species and even different genera to B. falcatus, providing usefull tools for future population genetic studies in this species. (AU)

Caries and genetic variability of streptococcus mutans / Caries y variabilidad genética de streptococcus mutans

In the last two decades, the increase in population genetics studies has contributed to elucidating important questions about the evolution of the pathogenesis of bacteria of clinical interest. The objective of this study is to revise and update the knowledge of the last fifteen years regarding the genetic variability of Streptococcus mutans and their association with dental caries. Streptococcus mutans, one of the most widely distributed bacteria in the world, are heavily associated with this condition. This research shows the results of numerous studies carried out in various countries that, using molecular and biochemical methods, revealed associations between different serotypes and caries activity. In addition, it is reported that the population genetics structure of Streptococcus mutans in Argentina is highly recombinant, which reflects the largest waves of human immigration that occurred in the 19th and 20th centuries. On the other hand, demographic analysis suggests that these bacteria experienced a population expansion that coincided with the beginning of agricultural development.

En las últimas dos décadas el incremento de los estudios de genética de poblaciones ha contribuido a dilucidar cuestiones importantes sobre la evolución de la patogénesis de bacterias de interés clínico. El objetivo de este trabajo es realizar una actualización sobre los conocimientos de los últimos quince años referidos a la variabilidad genética de Streptococcus mutans y su relación con la caries dental. Streptococcus mutans, de amplia distribución mundial, es una de las bacterias más fuertemente asociada a dicha enfermedad. En este trabajo se muestran resultados de numerosos estudios realizados en diferentes países que utilizando métodos moleculares y bioquímicos revelaron asociaciones entre diferentes serotipos y la actividad de caries. Además, se reporta que la estructura genética poblacional de Streptococcus mutans de Argentina es de alto nivel recombinante, lo que reflejaría las grandes oleadas inmigratorias humanas ocurridas en los siglos 19thy 20th. Por otra parte, los análisis demográficos sugieren que esta bacteria experimentó una expansión poblacional coincidente con el comienzo del desarrollo de la agricultura

Polimorfismo +405G> C del gen del factor de crecimiento de endotelio vascular en población cubana / Vascular Endothelial Growth Factor gene +405G> C polymorphism in the Cuban population

Introducción: El factor de crecimiento endotelial vascular (VEGF) es una proteína involucrada en la proliferación y migración celular del endotelio vascular, en cuyo gen se ha reportado el polimorfismo +405G>C. Se reconoce que no existen reportes genéticos poblacionales de esta variante en Cuba, que permitan caracterizar los perfiles inmunogenéticos a nivel molecular, para su aplicación en estudios de asociación alélica. Objetivo: Describir las frecuencias génicas y genotípicas del polimorfismo VEGF (+405 G>C) en la población cubana. Material y Métodos: Se realizó un estudio observacional, descriptivo, transversal, entre octubre de 2017 y marzo de 2018 en 162 neonatos cubanos, de ambos sexos y sanos, para el pesquisaje neonatal de enfermedades metabólicas, cuyas muestras biológicas se conservaban en el banco de ADN del Centro Nacional de Genética Médica. La caracterización molecular de los genotipos fue realizada mediante un PCR-ARMS. Se utilizó el software GENEPOP 4.4 y el paquete estadístico STATISTICA 8.0 para los cálculos de las frecuencias génicas y genotípicas. Resultados: La población no se ajustó al modelo de equilibrio de Hardy Weinberg para el gen evaluado. Las frecuencias génicas estimadas para el polimorfismo VEGF (+405 G>C) fueron de 0,33 para el alelo G y de 0,67 para el alelo C. El cálculo de las frecuencias genotípicas resultó en 0,14, 0,37 y 0,49, para las variantes GG, GC y CC, respectivamente. Conclusiones: Las frecuencias alélicas VEGF.C fueron superiores a la del alelo VEGF.G, siendo el genotipo VEGF.GG el de menor representación en el conjunto estudiado(AU)

Introduction: The vascular endothelial growth factor (VEGF) is a protein involved in the proliferation and cell migration of the vascular endothelium. In its gene, +405G>C Polymorphism has been reported. There are no population genetic reports of this variant in Cuba that allow the characterization of immunogenetic profiles at a molecular level for its application to allelic association studies. Objectives: To describe the genic and genotypic frequencies of the VEGF (+405 G>C) polymorphism in the Cuban population. Material and Methods: A descriptive cross-sectional observational study was carried out from October 2017 to March 2018 in 162 Cuban healthy newborns of both sexes for the neonatal screening for metabolic diseases, whose biological samples were conserved in the DNA bank of the National Center for Medical Genetics. The molecular characterization of the genotypes was carried out using a PCR-ARMS. The GENEPOP 4.4 software and the statistical software package STATISTICA 8.0 were used for the analysis of genic and genotypic frequencies. Results: The population did not adjust to the Hardy-Weinberg equilibrium model for the gene evaluated. The estimated gene frequencies of VEGF +405 G> C polymorphism were 0.33 for the G allele and 0.67 for the C allele. The calculation of the genotypic frequencies resulted in 0.14, 0.37 and 0.49, for the variants GG, GC and CC, respectively. Conclusions: The allelic frequencies of VEGF.C were higher than the frequencies of the VEGF.G allele, being the VEGF GG the least represented genotype in the group studied(AU)

Development of a small panel of SNPs to infer ancestry in Chileans that distinguishes Aymara and Mapuche components

BACKGROUND: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African. Individual variation in relative proportions of each of these ancestries may be confounded with socio-economic factors due to population stratification. Therefore, ancestry is a potential confounder variable that should be considered in epidemiologic studies and in public health plans. However, there are few studies that have assessed the ancestry of the current admixed Chilean population. This is partly due to the high cost of genome-scale technologies commonly used to estimate ancestry. In this study we have designed a small panel of SNPs to accurately assess ancestry in the largest sampling to date of the Chilean mestizo population (n = 3349) from eight cities. Our panel is also able to distinguish between the two main Amerindian components of Chileans: Aymara from the north and Mapuche from the south. RESULTS: A panel of 150 ancestry-informative markers (AIMs) of SNP type was selected to maximize ancestry informativeness and genome coverage. Of these, 147 were successfully genotyped by KASPar assays in 2843 samples, with an average missing rate of 0.012, and a 0.95 concordance with microarray data. The ancestries estimated with the panel of AIMs had relative high correlations (0.88 for European, 0.91 for Amerindian, 0.70 for Aymara, and 0.68 for Mapuche components) with those obtained with AXIOM LAT1 array. The country's average ancestry was 0.53 ± 0.14 European, 0.04 ± 0.04 African, and 0.42 ± 0.14 Amerindian, disaggregated into 0.18 ± 0.15 Aymara and 0.25 ± 0.13 Mapuche. However, Mapuche ancestry was highest in the south (40.03%) and Aymara in the north (35.61%) as expected from the historical location of these ethnic groups. We make our results available through an online app and demonstrate how it can be used to adjust for ancestry when testing association between incidence of a disease and nongenetic risk factors. CONCLUSIONS: We have conducted the most extensive sampling, across many different cities, of current Chilean population. Ancestry varied significantly by latitude and human development. The panel of AIMs is available to the community for estimating ancestry at low cost in Chileans and other populations with similar ancestry.

Karyotyping and population genetics in Cold War Mexico: Armendares's and Lisker's characterization of child and indigenous populations, 1960s-1980s / Cariotipia e genética de populações no México da Guerra Fria: as caracterizações de Armendares e Lisker sobre as populações infantil e indígena, 1960-1980

Abstract This paper focuses on geneticists Salvador Armendares's and Rubén Lisker's studies from the 1960s to the 1980s, to explore how their work fits into the post-1945 human biological studies, and also how the populations they studied, child and indigenous, can be considered laboratories of knowledge production. This paper describes how populations were considered for different purposes: scientific inquiry, standardization of medical practices, and production or application of medicines. Through the narrative of the different trajectories and collaborations between Armendares and Lisker, this paper also attempts to show the contact of their scientific practices, which brought cytogenetics and population genetics together at the local and global levels from a transnational perspective.

Resumo Aborda o trabalho dos geneticistas Salvador Armendares e Rubén Lisker, entre 1960 e 1980, para analisar como se insere nos estudos biológicos humanos do pós-1945, e demonstra como as populações estudadas por eles, a infantil e a indígena, podem ser consideradas laboratórios de produção de conhecimento. O artigo revela como as populações foram consideradas para diversos propósitos: investigação científica, padronização das práticas médicas e produção ou aplicação de suas medicinas. Por meio da narrativa das diferentes trajetórias e colaborações entre Armendares e Lisker, também procura discutir o contato de suas práticas científicas, que colocaram a citogenética e a genética de populações lado a lado nos níveis local e global a partir de uma perspectiva transnacional.

Decifrando o "mistério dos gêmeos": vinte anos de pesquisa em Cândido Godói, Rio Grande do Sul / Solving the "twins mystery": twenty years of research in Cândido Godói, Rio Grande do Sul state

Cândido Godói (CG) é um pequeno município brasileiro localizado no noroeste do Rio Grande do Sul e é conhecido como "Cidade dos Gêmeos" devido à alta taxa de nascimentos gemelares na região. Diante de um fato tão notável, muitas explicações foram sugeridas. Entre estas teorias, a que mais recebeu atenção da mídia, mesmo sem base científica, foi a de que a gemelaridade seria fruto de experimentos de um médico nazista alemão foragido após a Segunda Guerra Mundial. A convite da própria comunidade de CG, nosso grupo de pesquisa trabalha para resolver este mistério desde 1994, analisando diferentes fatores possivelmente relacionados, em especial suas características genéticas. Aqui, nós sumarizamos os principais resultados obtidos em mais de duas décadas de pesquisa, com foco nas particularidades do processo de comunicação dos resultados, aspectos éticos e como os achados científicos naquela comunidade contribuem não apenas com a resolução de um mistério histórico e local, mas também com o estudo de outras questões, como a reprodução humana e as bases biológicas da gemelaridade. (AU)

Cândido Godói (CG) is a small town located in the northwest region of Rio Grande do Sul state which is known as "Town of Twins" because of the high rate of twin births. Many explanations have been suggested for such a noteworthy fact. The theory that has received most attention from the press, despite a lack of scientific evidence, was that twinning would result from experiments conducted by a Nazi German physician who had been a fugitive after World War II. Invited by the local community, our research team has been dedicated to solving this mystery since 1994 by analyzing different possibly related factors, especially genetic characteristics. In this paper, we summarize the main results obtained in more than two decades of research, focusing on the particular communication process of the results, ethical aspects, and how the scientific findings in that community have contributed not only to the resolution of a historical and localized mystery, but also with the study of other issues such as human reproduction and biological basis of the twinning process. (AU)

Genetic polymorphisms of 23 autosomal short tandem repeat loci among ethnic Han Chinese from southern China / 中华医学遗传学杂志

OBJECTIVE@#To study genetic polymorphisms of 23 autosomal short tandem repeat (STR) loci among ethnic Han Chinese from southern China.@*METHODS@#The 23 autosomal STR loci among 331 unrelated healthy Han Chinese from southern China were genotyped with fluorescent multiplex amplification and capillary electrophoresis. Genetic parameters were subjected to statistical analysis.@*RESULTS@#In total 265 alleles and 890 genotypes were detected for the 23 STR loci. The numbers of alleles were 5-22, allelic frequency was 0.0015-0.5483, heterozygosity was 0.5891-0.9124, power of discrimination was 0.7818-0.9831, polymorphic information content was 0.5425-0.9031, probability of exclusion for trio-paternity testing was 0.2780-0.8208, and probability of exclusion for duo-paternity testing was 0.193-0.693. The combined power of discrimination was over 0.999 999 999 999 99, the combined probability of exclusion for trio-paternity identification was 0.999 999 999 729 813, and the combined probability of exclusion for duo-paternity identification was 0.999 999 207 508 474, respectively. The 23 STR loci showed no significant deviation from Hardy-Weinberg disequilibrium after Bonferroni correction (P> 0.05).@*CONCLUSION@#The 23 autosomal STR loci were highly polymorphic among ethnic Han Chinese from southern China, which showed a high efficiency for paternity testing, personal identification and population genetics.

Analysis of genetic polymorphisms of 21 autosomal short tandem repeat loci among Han Chinese from Quanzhou / 中华医学遗传学杂志

OBJECTIVE@#To analyze genetic polymorphisms of 21 autosomal short tandem repeat (STR) loci from Quanzhou Han Chinese groups using a GlobalFiler kit, and to assess its value for forensic practice.@*METHODS@#For 402 unrelated Han individuals, allelic frequencies of 21 autosomal STR loci were determined by using the GlobalFiler kit. Genetic parameters of the 21 STR loci were calculated.@*RESULTS@#No deviation from Hardy-Weinberg equilibrium was observed for the 21 loci. Most of the loci were highly polymorphic. Observed heterozygosity has ranged from 0.637 to 0.945, power of discrimination has ranged from 0.801 to 0.991, polymorphism information content has ranged from 0.570 to 0.940, power of exclusion was between 0.337 to 0.888, and match probability was between 0.009 to 0.199.@*CONCLUSION@#GlobalFiler kit has a high value for personal identification and paternity testing for Han Chinese from Quanzhou.

The genetic diversity of wild and cultivated Manila clam (Ruditapes philippinarum) revealed by 29 novel microsatellite markers

Background: Microsatellite loci often used as a genetic tool for estimating genetic diversity population variation in a wide variety of different species. The application of microsatellite markers in genetics and breeding includes investigating the genetic differentiation of wild and cultured populations, assessing and determining the genetic relationship of different populations. The aim of this work is to develop several microsatellite markers via highthroughput sequencing and characterize these markers in commercially important bivalve Ruditapes philippinarum. Results: Among the two populations of R. philippinarum studied, 110 alleles were detected. The number of alleles at the cultured population ranged from 3 to 17 (mean NA = 6.897) and wild population ranged from 2 to 15 (mean NA = 6.793). The observed and expected heterozygosities of cultured population ranged from 0.182 to 0.964, and from 0.286 to 0.900, with an average of 0.647 and 0.692, respectively. The observed and expected heterozygosities of wild population ranged from 0.138 to 1.000, and from 0.439 to 0.906, with an average of 0.674 and 0.693, respectively. The polymorphism information content ranged from 0.341 to 0.910 with an average of 0.687. Sixteen and thirteen microsatellite loci deviated significantly from Hardy­Weinberg equilibrium after correction for multiple tests in cultured and wild population, respectively. Conclusions: Twenty-nine novel microsatellite loci were developed using Illumina paired-end shotgun sequencing and characterized in two population of R. philippinarum.

Aplanar y exhibir la variación: dos estrategias de investigación de la genética humana en México / Flattening and Unpacking Variation: Two Research Strategies of Human Genetics in Mexico / Aplanar e exibir a variação: duas estratégias de pesquisa da genética humana no México

Resumen Introducción: este artículo analiza dos estrategias de investigación puestas en acción en tres proyectos de estudio de la genética humana en México, entre 1960 y 2009. Se distingue entre una estrategia que incorpora recursos multidisciplinarios en el diseño del muestreo, el análisis e interpretación de datos (a la que se le denomina de exhibición), y una que privilegia consideraciones pragmáticas sobre los análisis multidisciplinarios (a la que se le denomina de aplanamiento). Desarrollo: se analizó el trabajo del médico hematólogo Rubén Lisker en la década de 1960, el mapeo de la diversidad genómica mexicana realizado por investigadores del Instituto Nacional de Medicina Genómica entre 2004 y 2009, y el análisis de la variación nativa llevado a cabo por el genetista Andrés Moreno (en la Universidad de Stanford en ese entonces), y sus colegas en años recientes. Conclusiones: las decisiones estratégicas que toman los científicos tienen consecuencias en la medición y caracterización de la variación genética en las poblaciones humanas, pero también sobre las prácticas sociales demográficas y biomédicas relacionadas con su estudio. Mientras la primera estrategia exhibe de forma detallada la variación genética oculta en las poblaciones humanas, favoreciendo así la precisión y el realismo, la segunda tiende a aplanar las diferencias individuales y a perder profundidad histórica, pero privilegiando la generalización y la descripción de los grandes rasgos de una población.

Abstract Introduction: This article analyzes two research strategies carried out by three projects of human genetics in Mexico, between 1960 and 2009. We distinguish between a strategy that incorporates multidiscipli-nary resources in the design of sampling, analysis and interpretation of data (which we call exhibition), and one that privileges pragmatic considerations on multidisciplinary analysis (which we call flattening). Development: We analyzed the work of the hematologist Rubén Lisker in the 1960s, the mapping of Mexican genomic diversity carried out by researchers from the National Institute of Genomic Medicine between 2004 and 2009, and the analysis of the native variation carried out by geneticist Andrés Moreno (then at Stanford University), and his colleagues in recent years. Conclusions: The strategic decisions taken by scientists have consequences in the measurement and characterization of genetic variation in human populations, but also in the demographic and biomedical social practices related to their study. While the first strategy exhibits detailed genetic variation hidden in human populations, thus favoring precision and realism, the second tends to flatten individual differences and lose historical depth, but privileging the generalization and description of the broad features of a population.

Resumo Introdução: este artigo analisa duas estratégias de pesquisa colocada em prática em três projetos de estudo da genética humana no México, entre 1960 e 2009. Distinguimos entre uma estratégia que incorpora recursos multidisciplinares no desenho da amostragem, a análise e interpretação de dados (à qual chamamos de exibição), e uma que privilegia considerações pragmáticas sobre as análises multidisciplinares (a qual chamamos de aplanamento). Desenvolvimento: analisamos o trabalho do médico hematólogo Rubén Lisker na década de 1960, o mapeamento da diversidade genômica mexicana realizado por pesquisadores do Instituto Nacional de Medicina Genômica (INMEGEN) entre 2004 e 2009, e a análise da variação nativa levado a cabo pelo geneticista Andrés Moreno (para então na Universidade de Stanford), e seus colegas em anos recentes. Conclusões: as decisões estratégicas que tomam os científicos têm consequências na medição e caracterização da variação genética nas populações humanas, mas também sobre as práticas sociais demográficas e biomédicas relacionadas com o seu estudo. Enquanto a primeira estratégia exibe de forma detalhada a variação genética oculta nas populações humanas, favorecendo assim a precisão e o realismo, a segunda tende a aplanar as diferenças individuais e a perder profundidade histórica, mas privilegiando a generalização e a descrição dos grandes rasgos de uma população.

Polimorfismos de nucleotí­deo único associados à adiposidade corporal e ao metabolismo lipí­dico em indiví­duos adultos participantes do estudo de base populacional (ISA-Capital) / Not available

Introdução: no contexto das doenças crônicas não transmissíveis (DCNT), vários estudos associam a presença de determinados polimorfismos de nucleotídeo único (SNP) ao risco de desfechos metabólicos, como a obesidade e a dislipidemia. Objetivo: avaliar a presença de SNP associados à adiposidade corporal e ao metabolismo lipídico sobre o índice de massa corporal (IMC), o consumo alimentar, o perfil lipídico e a concentração plasmática de biomarcadores inflamatórios em indivíduos adultos participantes do estudo de base populacional (ISA-Capital). Métodos: 244 indivíduos adultos de ambos os gêneros (idade entre 20-59 anos) participaram do estudo, no qual foram realizadas as avaliações antropométricas e do consumo alimentar por meio do questionário de 24 horas (R24h) e a coleta de sangue para avaliação da concentração de biomarcadores inflamatórios. O índice de qualidade da dieta revisado (IQDR) foi utilizado no estudo. Foi realizada a genotipagem de oito genes e 13 SNP (FTO rs9939609, rs8050136, rs9930506; LDLR rs688, rs5925; APOB rs693, rs1367117, APOA5 rs662799; LIPC rs2070895, rs1800588; FADS1 rs174546; MYRF rs174537 e ELOVL2 rs953413) pelo sistema TaqMan Open Array. A partir dos resultados da genotipagem, foi elaborado um escore de risco genético (ERG). Resultados: foi verificada associação negativa entre o consumo de vegetais totais (P=0,004) e vegetais verdes-escuros e alaranjados e leguminosas (P=0,002) e leite e derivados (P=0,009) com o IMC. O consumo de cereais totais (P=0,029) e de carboidratos totais (P=0,011) mostrou interação negativa para o ERG, enquanto o consumo de carnes, ovos e leguminosas teve interação positiva (P=0,028) ao influenciar o IMC. As concentrações plasmáticas de HDL-c tiveram associação negativa (P=0,026) com o IQDR e associação positiva (P=0,007) com o componente Gord_AA (valor energético proveniente da gordura sólida, álcool e açúcar de adição). Foi encontrada interação significativa entre o consumo de óleos (lipídios insaturados) (P=0,019) e de Gord_AA (P<0,001). Concentrações plasmáticas de HDL-c e de LDL-c são significativamente menores nos carreadores do alelo variante T para os SNP que correspondem às atividades das enzimas dessaturases (FADS1 e MYRF). As concentrações do ácido oleico foram maiores nos indivíduos com genótipo CT/TT no gene da FADS1 e AG/GG no gene da ELOVL2 em relação aos genótipos selvagens. Apenas os carreadores do alelo T tanto em FADS1 quanto em MYRF tiveram concentrações de ácido linoleico e linolênico superiores em relação aos genótipos selvagens. Por outro lado, as concentrações de ácido araquidônico, de ácido docosapentaenoico (DPA), de ácidos graxos saturados e de poli-insaturados totais foram menores nos indivíduos carreadores dos alelos variantes para os três polimorfismos avaliados. O conteúdo de ácido eicosapentaenoico (EPA) foi menor nos carreadores do alelo T dos genes FADS1 e MYRF, enquanto o conteúdo de ácido esteárico foi menor apenas nos carreadores do alelo G do gene ELOVL2, sendo que nestes indivíduos as concentrações plasmáticas do conteúdo total de ácidos monoinsaturados foram significativamente maiores quando comparados ao genótipo selvagem (AA). Observou-se também que a atividade estimada da enzima estearoil CoA dessaturase (SDC_18) é maior nos genótipos CT/TT da FADS1 e da ELOVL2. Contudo, a estimativa da atividade da enzima delta-5 dessaturase (D5D) foi estatisticamente menor na presença do alelo polimórfico para os três SNP estudados (FADS1 CT/TT; MYRF GT/TT; ELOVL2 AG/GG). Apenas para os carreadores do alelo T da FADS1 (CT/TT), a estimativa da atividade da enzima delta-6 dessaturase (D6D) foi estatisticamente menor em relação ao genótipo selvagem CC. Conclusões: a presença dos SNP estudados na população de São Paulo mostraram associações em relação ao aumento do risco para adiposidade corporal e dislipidemias, podendo também apresentar associações com a qualidade da dieta dos participantes. Nesse sentido, a aplicação do IQDR junto com o ERG pode ser uma ferramenta útil na identificação de associações entre gene-nutriente e o impacto nas doenças metabólicas.

Introduction: excess weight and changes in lipid profile may be associated with environmental factors, such as diet quality, and non-modifiable factors, such as genetic inheritance. In the context of chronic noncommunicable diseases (NCDs), several studies associate the presence of certain single nucleotide polymorphisms (SNP) to the risk of metabolic outcomes, such as obesity and dyslipidemia. Objective: to evaluate the presence of SNP associated with body fat and lipid metabolism on body mass index (BMI), dietary intake, lipid profile and plasma concentration of inflammatory biomarkers in adult individuals participating in the population-based study (ISA-Capital). Methods: 244 adult subjects of both genders (ages 20-59 years) participated in the study, in which the anthropometric traits were evaluated, and food consumption evaluations were performed using the 24- hour questionnaire (R24h) and blood collection for evaluation of concentration of inflammatory biomarkers. The Brazilian healthy eating index revised (BHEIR) was used in the study. Genotyping of eight genes and 13 SNP (FTO rs9939609, rs8050136, rs9930506; LDLR rs688, rs5925; APOB rs693, rs1367117, APOA5 rs662799; LIPC rs2070895, rs1800588; FADS1 rs174546; MYRF rs174537 and ELOVL2 rs953413) were performed by the TaqMan Open Array system. From the results of the genotyping, a genetic risk score (GRS) was elaborated. Results: there was a negative association between the consumption of total vegetables (p = 0.004) and dark green and orange vegetables and legumes (p = 0.002), milk and dairy (p=0.009) with BMI. Total cereal consumption (p = 0.029) and total carbohydrates (p = 0.011) showed negative interaction for GRS (categories 3 to 5), while meat, egg and legume consumption had a positive interaction (p = 0.028) influence BMI. Of the BHEIR components, plasma HDL-c concentrations were negatively associated (p = 0.026) with the BHEIR and positive association (p = 0.007) with the SoFAAS component (energy value from solid fat, alcohol and addition sugar). Significant interaction was observed between the consumption of oils (unsaturated lipids) (p = 0.019) and SoFAAS (p <0.001). About the enzymes associated with biosynthesis of omega 3 and polyunsaturated fatty acids 6, plasma HDL-c and LDL-c plasma concentrations are significantly lower in carriers of the T variant allele for SNP that correspond to the activities of desaturases (FADS1 and MYRF). Oleic acid concentrations were statistically higher in individuals with CT / TT genotypes in the FADS1 and AG / GG gene in the ELOVL2 gene in relation to wild genotypes. In addition, only the T allele carriers in both FADS1 and MYRF had higher concentrations of linoleic and linolenic acid than wild genotypes. The concentrations of arachidonic acid, docosapentaenoic acid (DPA), saturated fatty acids and total polyunsaturated fatty acids were lower in the carriers of the variant alleles for the three evaluated polymorphisms. The eicosapentaenoic acid (EPA) content was lower in the T allele carriers of the FADS1 and MYRF genes, while the stearic acid content was lower only in the G allele carriers of the ELOVL2 gene, where in these individuals the plasma concentrations of the total content of monounsaturated acids were significantly higher when compared to the wild-type (AA) genotype. It was also observed that the estimated activity of the stearoyl CoA desaturase enzyme (SDC_18) is higher in the CT / TT genotypes of FADS1 and ELOVL2. However, the estimate of the activity of the enzyme delta-5 desaturase (D5D) was statistically lower in the presence of the polymorphic allele for the three SNP studied (FADS1 CT/ TT; MYRF GT / TT; ELOVL2 AG / GG). Only for the FADS1 (CT / TT) allele carriers, the estimate of the activity of the enzyme delta-6 desaturase (D6D) was statistically lower than the wild-type CC genotype. Conclusions: the presence of SNP studied in the population of São Paulo showed associations in relation to the increased risk for body fatness and dyslipidemia and may also present associations with the quality of the participants' diet. In this sense, the application of BHEIR together with GRS may be a useful tool in the identification of genenutrient associations and the impact on metabolic diseases.

Diversidade em genes relacionados à resistência a inseticidas e ritmos biológicos em Anopheles darlingi Root 1926 / Diversity in genes related to insecticide resistance and biological rhythms in Anopheles darlingi Root 1926

Anopheles darlingi, o principal vetor de plasmódios que podem causar malária humana, está distribuído na região neotropical desde o sul do México até o sul do Brasil. Uma série de estudos vem apontando evidências sobre a existência de espécies crípticas em An. darlingi, como por exemplo populações exibindo diferenças no comportamento hematofágico, em arranjos cromossomais e na morfologia dos ovos e asas. Além disso, variações em microssatélites e outras diferenças moleculares têm sido notadas. A alimentação, assim como a locomoção e acasalamento, apresentam ritmos biológicos controlados por genes do relógio circadiano, como o timeless (tim) e period (per), que podem estar envolvidos na regulação de características comportamentais espécie-específicas, e portanto configuram alvos interessantes para o estudo da dinâmica de especiação. Além disso, busca-se polimorfismos em genes do canal de sódio (NaV) e da acetilcolinesterase (ace-1), relacionados à resistência a inseticidas das classes piretróides e organofosforados, respectivamente

Sendo assim, testamos a hipótese de divergência entre diferentes amostras de An. darlingi de localidades brasileiras (Barcelos e Manaus, AM, além de Porto Velho, RO) e uma colombiana (Chocó). Os resultados foram obtidos via amplificação de fragmentos daqueles quatro genes, clonagem e sequenciamento, em pools de cada população. Ao final das análises, os marcadores per, tim e ace-1 apresentaram estruturação genética entre as populações analisadas, sugerindo um perfil genético distinto entre as populações de An. darlingi da Colômbia e do Brasil. Curiosamente, o marcador NaV não mostrou estruturação para nenhuma das populações em questão. Por fim, não foram encontradas mutações classicamente relacionadas à resistência a inseticidas nos genes NaV e ace-1. (AU)