A Rapid PCR-RFLP Method for Assessing Heterozygosity of Murraya paniculata Germplasm / 中国实验方剂学杂志

ObjectiveTo establish a rapid method for evaluating the heterozygosity of Murraya paniculata germplasm materials and provide as a foundation for developing germplasm breeding and innovation measures for M. paniculata. MethodSingle nucleotide polymorphisms （SNPs） were screened from the genome resequencing data of 65 plants of M. paniculata. A self-written script was used to transform 20 SNPs into restriction fragment length polymorphism （RFLP） markers. Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was employed to detect the 20 RFLP markers in 12 M. paniculata germplasm accessions， and the heterozygosity of M. paniculata germplasm accessions was calculated based on the number of enzyme-cutting bands at the 20 RFLP marker sites. Plink was used to calculate the whole genome heterozygosity of 12 M. paniculata germplasm accessions， and the results obtained with different methods were compared. ResultThere was no significant difference in the heterozygosity calculated by the PCR-RFLP method and the genome resequencing method. The PCR-RFLP and genome resequencing methods identified 8 and 9 germplasm accessions， respectively， with a heterozygosity level less than 30%. Seven germplasm accessions with heterozygosity less than 30.00% were calculated by both methods. ConclusionThe PCR-RFLP method established in this study for evaluating the heterozygosity of M. paniculata germplasm demonstrates the precision of 87.5% and the accuracy of 77.8%. This method serves as a reference for developing heterozygosity evaluation methods in other medicinal plant germplasm resources.

Variabilidad genética del pez Lutjanus guttatus (Perciformes: Lutjanidae) mediante el uso de microsatélites en Costa Rica / Genetic variability of the fish Lutjanus guttatus (Perciformes: Lutjanidae) using microsatellites in Costa Rica

Introducción: El pargo mancha es un pez marino de alto consumo e interés comercial en Costa Rica que está sometido a una fuerte presión pesquera, la cual puede afectar la diversidad genética y generar problemas por depresión endogámica. Objetivo: Evaluar el estado genético de la población de Lutjanus guttatus mediante el uso microsatélites. Métodos: Se recolectaron muestras entre el 2018 y 2019 y se estudiaron 44 individuos de cada una de las localidades del Golfo de Nicoya y Golfo Dulce. Se realizó la extracción de ADN y la amplificación de diez loci con microsatélites mediante PCR, para la determinación del genotipo, análisis de diversidad genética y estructura poblacional. Resultados: Los parámetros de diversidad indican un elevado polimorfismo asociado con un alto número de alelos obtenidos por locus, pero con bajos niveles de heterocigosidad observada en comparación con la esperada (Ho= 0.774 y 0.800 y He= 0.948 y 0.954 para Golfo de Nicoya y Golfo Dulce, respectivamente). No hay evidencia suficiente para decir que las dos poblaciones son distintas (FST= 0.00264, P > 0.05). La desviación del Equilibrio de Hardy-Weinberg indica la posible mezcla de organismos de origen distinto a los del medio silvestre. Conclusiones: L. guttatus tiene niveles altos de diversidad genética, no hay evidencia de diferenciación en subpoblaciones genéticas, lo que en manejo pesquerías se considera una sola población panmíctica. La posible mezcla de individuos de origen distinto al silvestre sugiere la presencia de organismos de un programa de repoblación o de cultivos comerciales en la región. El uso de marcadores genéticos se recomienda para el monitoreo, además, en programas de repoblación y evaluar su efecto.

Introduction: The spotted snapper is a high-consumption and commercially important marine fish in Costa Rica, subjected to heavy fishing pressures, which can affect genetic diversity and generate problems due to inbreeding depression. Objective: To evaluate the genetic status of the population of Lutjanus guttatus using microsatellites. Methods: Samples were collected between 2018 and 2019, and 44 individuals from each of the localities of the Gulf of Nicoya and the Gulf of Dulce were studied. DNA extraction and amplification of ten loci with microsatellites using PCR were performed, followed by genotyping, analysis of genetic diversity, and population structure. Results: Diversity parameters indicate a high polymorphism associated with a high number of alleles obtained per locus, but with low levels of observed heterozygosity compared to expected (Ho= 0.774 and 0.800, and He= 0.948 and 0.954 for the Gulf of Nicoya and Gulf of Dulce, respectively). There is not enough evidence to say that the two populations are distinct (FST= 0.00264, P > 0.05). Deviation from Hardy-Weinberg equilibrium was recorded, indicating possible mixing of organisms of different origin from the wild environment. Conclusions: L. guttatus presents high levels of genetic diversity, without evidence of differentiation in genetic subpopulations. For fisheries management purposes, they would be considered a single panmictic population. The possible mixing with wild individuals suggests the presence of organisms derived from a restocking or commercial cultivation program carried out in the region. The use of genetic markers is recommended to maintain monitoring, follow up on restocking programs and evaluate their effect.

Research progress in the relationship between loss of heterozygosity events and antifungal drug resistance in Candida albicans / 中华微生物学和免疫学杂志

Candida albicans as a pathogen of great clinical significance can widely colonize in many ecological niches of human body, especially in the immunocompromised population. Currently, antifungal drugs that can be used in clinical treatment are very limited. However, the genome of Candida albicans has a high rate of mutation, which can help it quickly develop resistance to antifungal drugs. Therefore, drug resistance in Candida albicans remains a great threat to clinical practice. This article focused on the frequent loss of heterozygosity (LOH) events in Candida albicans, summarized the association between LOH and other genomic variants and discussed the relationship of the frequency of de novo mutations, heterozygous status of key drug resistance genes and reproductive pattern with antifungal drug resistance.

Mutagénesis inducida en plantas de Solanum betaceum Cav. mediante el uso de dietil sulfato (DES) / Induced mutagenesis in Solanum betaceum Cav. plants by the use of diethyl sulphate (DES)

RESUMEN La materia prima del fitomejoramiento es la variabilidad genética, que se presenta baja, en especies en proceso de domesticación, que no han sido sometidas a selección, como en Solanum betaceum. Una de las tecnologías para incrementar la variabilidad genética es la inducción de mutagénesis. El objetivo del estudio fue evaluar, a través de marcadores RAMs, las variaciones moleculares presentes en plántulas de S. betaceum, provenientes de semillas sometidas a diferentes concentraciones del agente mutante dietil sulfato (DES). Los loci polimórficos oscilaron entre 87,5 y 100 % y el número de alelos efectivos (Ne), entre 1,0 y 1,99. Los loci más polimórficos se observaron en TG, AG, ACA y CGA, que mostraron una heterosis media insesgada entre 0,34 y 0,51, que permite establecer que estos marcadores sean útiles para obtener mayor discriminación entre mutantes en S. betaceum. Las distancias genéticas oscilaron entre 0,30 y 1,0. El 81,28 % de estos registros se dieron entre 0,60 y 0,90; esto revela bajo nivel de cambios, debido al DES. Estos pequeños cambios contribuyeron a enriquecer la variabilidad genética de la muestra tratada con DES. Los marcadores RAMs fueron útiles para detectar cambios entre plantas provenientes de semillas tratadas con DES y plantas normales. La variabilidad genética entre tratamientos con DES fueron más altos que tratamientos sin DES. Las similitudes genéticas fueron bajas entre plantas tratadas y no tratadas y fueron altas, entre no tratadas. Los cambios producidos por DES fueron de baja magnitud; sin embargo, produjeron cambios en los niveles de variabilidad genética.

ABSTRACT The raw material for plant breeding is genetic variability, which is low in species in the process of domestication that have not been subjected to selection, as is the case with Solanum betaceum. One of the technologies to increase genetic variability is mutagenesis induction. The objective was to evaluate, through RAMs markers, the molecular variations present in S. betaceum seedlings from seeds previously subjected to different concentrations of the mutant agent diethyl sulfate (DES). The polymorphic loci ranged from 87.5 to 100%, number of effective alleles (Ne) between 1.0 and 1.99. The most polymorphic loci were observed in TG, AG, ACA, and CGA, which showed a mean unbiased heterosis between 0.34 and 0.51 with an average of 0.44, which allows establishing that these markers are useful to obtain greater discrimination between mutants in S. betaceum. Genetic distances ranged from 0.30 to 1.0. The 81.28% of these records were between 0.60 and 0.90. This reveals a low level of changes due to DES. These small changes contribute to enriching the genetic variability of the DES-treated sample. The RAMs markers were useful for detecting changes between plants from DES treated seeds and normal plants. Genetic variability between DES treatments was higher than non-DES treatments. Genetic similarities were low between treated and untreated plants and were high among untreated plants. The changes produced by DES were of low magnitude, however, they produced changes in the levels of genetic variability.

Congenital Hyperinsulinemia of Infancy: Role of Molecular Testing in Management and Genetic Counseling

Congenital hyperinsulinemia (CHI) is a genetically and clinically heterogenous disorder. In addition to the standard care of management of the proband, genetic counseling regarding the risk of recurrence in the future siblings is an important part in the management of the disorder. The counseling needs identifcation of accurate etiology and is challenging due to the complexity of the molecular mechanisms of CHI. This case highlights the importance of molecular testing which not only helped in planning the management of the proband with CHI but also helped in providing genetic counseling for which the family had consulted the medical genetics department.

Genetic Diversity in Natural Populations and Cultivated Stands of Walnut (Juglans regia L.) Using Microsatellite Marker

Abstract Information on genetic diversity is fundamental to developing in situ or ex situ conservation strategies. This study assessed the genetic differentiation between plantations and neighboring natural populations of Juglans regia. Genetic structures of three natural population and three neighboring plantations of J. regia in northwest of Iran were assessed using 10 nuclear microsatellite loci (SSR). Natural populations presented higher total number of alleles (119) and observed heterozygosity (Ho= 0.29) than planted stands (101 alleles, Ho= 0.21). The observed alleles of natural stands varied from 2 (WGA61 and WGA9) to 7 (WGA9) and from 2 (WGA321 and WGA276) to 5 (WGA202 and WGA9) in planted stands. One of the planted populations (B) indicated the largest level of genetic diversity. In conclusion, genetic diversity of all investigated plantation and natural stands are similar. This recommends that even plantations might qualify as gene conservation stands.

Analysis of the population structure and genetic diversity of the red swamp crayfish (Procambarus clarkii) in China using SSR markers

BACKGROUND: Procambarus clarkii produces high-quality, delicious meat that is high in protein, low in fat, and rich in calcium and phosphorus. It has become an important aquatic resource in China. Our objectives are (i) to analyze the level of genetic diversity of P. clarkii populations; (ii) to explore the genetic differentiation (Gst); and (iii) to propose appropriate strategies for the conservation. RESULTS: In this study, Shannon's index (I) and Nei's gene diversity index (H) for P. clarkii were high (I = 0.3462 and H = 0.2325 on average and I = 0.6264, H = 0.4377 at the species level) based on the SSR markers. The expected heterozygosity value of 17 microsatellite loci in 25 crayfish populations was 0.9317, the observed heterozygosity value was 0.9121, and the observed number of alleles per locus was 2.000; and the effective number of alleles per locus was 1.8075. Among the P. clarkii populations, the inbreeding coefficient within populations (Fis) was 0.2315, overall inbreeding coefficient (Fit) was 0.4438, genetic differentiation coefficient among populations (Fst) was 0.3145 and gene differentiation (Gst) was 0.4785 based on SSR analyses. The cluster analysis results obtained by unweighted pair-group method with arithmetic mean (UPGMA) analysis, principal coordinate analysis (PCoA) and STRUCTURE analysis were similar. A mantel test showed that the isolation-by-distance pattern was not significant. CONCLUSIONS: The high Gst among P. clarkii populations is attributed to genetic drift and geographic isolation. The results indicated that more P. clarkii populations should be collected when formulating conservation and aquaculture strategies.

Genome survey study of Alpinia katsumadai based on Illumina high throughput sequencing / 中草药

Objective: To analyze the genome survey of medicinal and edible plant Alpinia katsumadai and complete its genome genetic information. Methods: This study was based on high throughput sequencing platform Illumina, and K-mer analysis was applied to estimate the genome size and heterozygosity rate of A. katsumadai. Meanwhile, simple sequence repeat (SSR) loci that were suitable as markers were identified by MISA software. Results: The estimated genome size of A. katsumadai was 1.60 Gb, with a 0.44% heterozygosity rate and 72.72% repeats; In the genome sequence, 364 395 simple sequence repeats (SSRs) were detected by SSR molecular marker analysis, among which mono-nucleotide, di-nucleotide and tri-nucleotide repetitive motifs ranked the higher percentages of 64.25%, 24.05% and 10.31%, summed up to 98.61%; From the 350 bp library obtained by sequencing, 10 000 single-end reads were randomly selected and blasted with NT bank, the results showed that its genetically close species Alpinia zerumbet and Elettaria cardamomum were blasted with the reads of 12.89% and 12.36% in NT bank. Conclusion: The genome size, heterozygosity rate and SSR molecular marker analysis' genome survey study on A. katsumadai indicated that the genome of A. katsumadai species was a complex, highly repetitive and large genome, which provided genetic information support for the resource protection, genetic diversity analysis and variety breeding of A. katsumadai.

Genetic diversity of 16S rRNA and mcrA genes from methanogenic archaeas

Methanogenic archaeas are found in aquatic and terrestrial environments and are fundamental in the conversion of organic matter into methane, a gas that has a potential use as renewable source of energy, which is also considered as one of the main agents of the greenhouse effect. The vast majority of microbial genomes can be identified by a conservative molecular marker, the 16S ribosomal gene. However, the mcrA gene have been using in studies of methanogenic archaea diversity as an alternative marker, highly conserved and present only in methanogens. This gene allows the expression of the enzyme Methyl-coenzyme M reductase, the main agent in converting by-products of anaerobic digestion into methane. In this context, we aimed to study the genetic diversity of mcrA and 16S rRNA genes sequences available in databases. The nucleotide sequences were selected from the NCBI. The heterozygosity and molecular diversity indexes were calculated using the Arlequin 3.5 software, with plots generated by package R v3.0. The diversity and heterozygosity indices for both genes may have been influenced by the number and size of the sequences. Descriptive analysis of genetic diversity generated by sequences deposited in databases allowed a detailed study of these molecules. It is known that the organisms in a population are genetically distinct, and that, despite having similarities in their gene composition, the differences are essential for their adaptation to different environments.

Assessment of genetic diversity and relationships among Salvia species using gene targeted CAAT box-derived polymorphism markers

To detect the genetic variation and relationships among different Salvia ecotypes/species, the gene targeted CAAT boxderived polymorphism (CBDP) markers were employed in terms of their efficiency. In this study, 25 CBDP primers amplified a total of 323 different polymorphic fragments that discriminate all 26 Salvia ecotypes/species and produced an informative and differentiated dendrogram and population structure. The CBDP markers were found to be effective in Salvia genetic diversity estimation with regard to the averages polymorphism (100%), polymorphism information content (PIC = 0.89), marker index (MI = 4.5) and the effective multiplex ratio (EMR = 5.01) which were higher than other reported markers on Salvia. The extent of heterozygosity (0.034≤H≤0.223) and Shannon index (0.042≤I≤0.278) indicated a high level of genetic variation among Salvia species. The species containing the highest basic chromosome number (X = 12) revealed the highest values for the number of different (Na) and effective (N e) alleles, Shannon index (I), and heterozygosity (H). Additionally, the tetraploid species showed high values of N a, Ne, I and H compared to the diploid species. Mean of gene differentiation (Gst) among Salvia species was 0.792, and the estimation of gene flow (Nm) was 0.13, indicating high genetic differentiation. Remarkably, similar results were obtained from the principal co-ordinate analysis (PCoA) as compared with the cluster analysis, in which all different Salvia species formed individual groups. In conclusion, because the CBDP markers are derived from the gene containing regions of the genome, consequently, the high genetic diversity among studied Salvia species would be more useful for crop improvement programmes, such as hybridization between species and QTL mapping. The potential of CBDPs for analysing the phylogeny and genetic diversity of Salvia species is another key result with practical implications.

Genetic diversity in oocyte donors used in in vitro bovine embryo production programs in Brazil / Diversidad genética en donadoras de ovocitos utilizadas en programas de producción de embriones bovinos in vitro en Brasil / Diversidade genética em doadoras de oócitos utilizadas em programas de produção de embriões bovinos in vitro no Brasil

Abstract Background: Current reproductive management of bovine elite populations involves the use of assisted reproductive technologies (ARTs), aiming to obtain the greatest genetic gain. However, inadequate use of ARTs may lead to loss of genetic diversity in the offspring. Objective: To assess the genetic diversity in elite female cattle populations used in commercial in vitro embryo production. Methods: Using genetic and ecological approaches for the study of populations based on microsatellite markers, we assessed the genetic diversity between and within populations of cows used in commercial in vitro embryo production programs in Brazil. Results: Endogamy within populations varied from zero to 9.1%, while heterozygosity between populations (FST) was <0.05 in the different population interactions. AMOVA showed 1% variation between populations, 8% between individuals and 91% within individuals. The dimensionality reduction method utilized indicated a lack of structure in the populations analyzed, identifying two main clusters in the three populations. Conclusions: Low genetic diversity between cow populations associated with commercial programs of in vitro embryo production in Brazil was evidenced. Variable levels of endogamy within the populations were observed. Approaches of population genetics as well as ecological diversity can be implemented to more thoroughly estimate genetic diversity in livestock populations.

Resumen Antecedentes: El actual manejo reproductivo en poblaciones de bovinos de élite incluye la utilización de tecnologías de reproducción asistida (ARTs) con el fin de obtener mayor ganancia genética. Sin embargo, el uso inadecuado de las ART puede llevar a la pérdida de diversidad genética en los descendientes. Objetivo: Evaluar la diversidad genética en poblaciones de vacas de élite utilizadas en la producción comercial de embriones bovinos in vitro. Métodos: Utilizando abordajes de la genética y ecología de poblaciones basados en marcadores microsatélites, evaluamos la diversidad genética entre y dentro de poblaciones de vacas participantes de programas comerciales de producción de embriones in vitro en Brasil. Resultados: La endogamia dentro de las poblaciones varió de cero a 9,1%, mientras que la heterocigosidad entre poblaciones (FST) fue <0,05 en las diferentes interacciones de la población. El AMOVA mostró variación del 1% entre poblaciones, 8% entre individuos y 91% dentro de individuos. El método de reducción de dimensionalidad utilizado indicó una falta de estructura en las poblaciones analizadas, identificando dos grupos principales en las tres poblaciones. Conclusiones: Se evidenció una baja diversidad genética entre las poblaciones de vacas asociadas a programas comerciales de producción de embriones in vitro en Brasil. Se evidenciaron niveles variables de endogamia entre las poblaciones. Abordajes de la genética poblacional, así como de diversidad ecológica pueden ser implementados para estimar de manera más amplia la diversidad genética en poblaciones animales de interés pecuario.

Resumo Antecedentes: O atual manejo reprodutivo das populações de elite em bovinos envolve o uso de tecnologias de reprodução assistida (ARTs), visando obter o maior ganho genético. No entanto, o uso inadequado de ARTs pode levar à perda de diversidade genética na prole. Objetivo: Avaliar a diversidade genética em populações de vacas de elite utilizadas na produção comercial de embriões bovinos in vitro. Métodos: Utilizando abordagens da genética e ecologia de populações baseadas em marcadores microssatélites, foi avaliada a diversidade genética entre e dentro das populações de vacas participantes de programas comercias de produção in vitro de embriões. Resultados: A endogamia dentro das populações variou de zero a 9,1%, enquanto a heterozigosidade entre populações (FST) foi <0,05 nas diferentes interações populacionais. AMOVA mostrou variação de 1% entre populações, 8% entre indivíduos e 91% dentro de indivíduos. O método de redução de dimensionalidade utilizado indicou uma falta de estrutura nas populações analisadas, identificando dois clusters principais nas três populações. Conclusões: Baixa diversidade genética entre populações de vacas associadas a programas de produção in vitro de embriões foi evidenciada. Níveis de endogamia variáveis dentro das populações foram observados. Abordagens da genética populacional assim como de diversidade ecológica podem ser implementadas na tentativa de estimar de maneira mais abrangente a diversidade genética em populações animais de interesse pecuário.

Diagnóstico molecular de pérdida de heterocigosidad para 1p/19q en tumores oligodendrogliales por PCR multiplex en el Instituto Nacional de Enfermedades Neoplásicas, Lima- Perú / Molecular diagnosis of heterozygosity loss for 1p/19q in oligodendroglial tumors by multiplex PCR at the National Institute of Neoplastic Diseases, Lima-Peru

La pérdida de heterocigosidad 1p/19q tiene valor pronóstico clínico y está fuertemente asociada con características histológicas clásicas de oligodendroglioma. Objetivos: El presente artículo, propone un método molecular para determinar la pérdida de heterocigosidad (LOH por sus siglas en inglés) para 1p/19q y permitir la clasificación de tumores oligodendrogliales. Material y Métodos: Se utilizaron muestras en fresco del Banco de Tejidos Tumorales del Instituto Nacional de Enfermedades Neioplásicas (INEN) y biopsias de tejido embebido en parafina de tumores oligodendrogliales, con diagnóstico patológico de oligodendroglioma y oligoastrocitoma. Los métodos propuestos son PCR Multiplex y amplificación de fragmentos por electroforesis capilar de los productos de PCR, y fueron aplicados a un total de 39 casos que presentaban grado histológico II y III. Resultados: Los resultados obtenidos permiten una adecuada clasificación molecular de los tumores oligodendrogliales.

A heterozygosity loss of 1p/19q has clinical prognostic value and is strongly associated with classical histologic features of oligodendroglioma. Objectives: The present article proposes a molecular method to determine the loss of heterozygosity (LOH) for 1p/19q and to allow the classification of oligodendroglial tumors. Material and Methods: Fresh samples from the National Institute of Neoplastic Diseases’ Tumor BioBank and paraffin-embedded tissue biopsies of oligodendroglial tumors with pathological diagnosis of oligodendroglioma and oligoastrocytoma were used. The proposed methods are Multiplex PCR and amplification of fragments by capillary electrophoresis of PCR products, and were applied to a total of 39 cases which presented histological grade II and III. Results: The results obtained allow an adequate molecular classification of oligodendroglial tumors.

Genetic variability in a population of Astyanax scabripinnis: recent bottleneck and the possible influence of individuals with B chromosomes

Access the genetic variability of endangered and isolated populations has become an important conservation tool. Astyanax scabripinnis is a well-known fish model for genetic studies, forming very isolated populations in headwaters. Besides that, this species frequently presents supernumerary chromosomes, which elevates the interest on genetic studies. Genetic diversity of an Astyanax scabripinnispopulation from the Atlantic Forest (Serra da Mantiqueira region, Brazil) was assessed with microsatellite markers for the first time. Since microsatellite markers are not described for this species, we tested markers described for a related species for transferability to A. scabripinnis. Six polymorphic loci were sufficiently reliable for population genetic analysis. We found that this population passed through a recent bottleneck because of the presence of an excess of heterozygotes, low allelic diversity, heterozygosity excess, and small effective population size. Individuals with and without B chromosomes were previously identified in this population and our study found private alleles in the individuals without B chromosomes. Furthermore, when individuals without B chromosomes were removed from the analysis, the population did not present heterozygosity excess, suggesting that the bottleneck event was driven by individuals with B chromosomes. Our results provide an insight into the value of microsatellite markers as molecular tools and is the first genetic study using molecular data of A. scabripinnis from this area.

Patrones de frecuencias en 100 marcadores informativos de ancestría entre dos etnias indígenas y dos poblaciones mestizas de Colombia / Frequency pattern analysis of 100 ancestry informative markers between two ethnics groups and two populations of Colombia

Colombia es el segundo país con mayor cantidad de etnias Amerindias del continente gracias a su ubicación geográfica y a que se encuentra en el Noroccidente del continente Sur Americano tuvo que haber sido un corredor para las migraciones de los Amerindios. Pero debido a la mezcla amerindia, europea y africana, ocurrida en diferentes proporciones a lo largo del país hubo cambios en las dinámicas poblacionales. Ojetivo: se caracterizó molecularmente una muestra indígena proveniente de dos etnias ­ Pijao y Nasa Paez, - y otra muestra de individuos mestizos no relacionados del Tolima; con el fin de identificar heterocigocidad, frecuencias alélicas y distancias Fst, mediante el análisis de 100 marcadores informativos de ancestría (SNPs autosómicos). Metodología: Para la realización de este estudio se obtuvo ADN a partir de muestras de sangre tomadas en personas indígenas y mestizas de las regiones ya mencionadas, para tipificar 100 SNPs autosómicos o Marcadores de informativos de Ancestría (AIMs). Resultados: los análisis de la Heterocigocidad (Het) mostraron que los valores bajos se presentaban en las etnias indígenas Nasa (0,181) y Pijaos (0,250), mientras que los de Planadas (0,402) e Ibagué (0,415) presentaron los valores altos. Los análisis realizados de manera global mostraron que las poblaciones del Tolima son menos heterocigotas que las poblaciones ancestrales. Conclusiones: La población nativa Nasa, es la de mayor conservación de la variación nativa ancestral reflejada con los análisis de heterocigocidad y posee una mayor distancia genética con respecto a las poblaciones mestizas.

Colombia is the second country with the largest number of amerindian ethnic groups on the continent thanks to its geographical location and that it is located in the Northwest of the South American continent, it had to have been a corridor for the Amerindian migrations. But due to the Amerindian, European and African mix, which occurred in different proportions throughout the country, there were changes in population dynamics. Objective: an indigenous sample from two ethnic groups - Pijao and Nasa Paez, was molecularly characterized - and another sample of unrelated mestizo individuals from Tolima; to identify heterozygosity, allelic frequencies and Fst distances, by analyzing 100 informative markers of ancestry (autosomal SNPs). Methodology: To carry out this study, DNA was obtained from blood samples taken in indigenous and mestizo people from the aforementioned regions, to typify 100 autosomal SNPs or ancestry informative markers (AIMs). Results: Heterozygous (Het) analyzes showed that low values were presented in the Nasa (0,181) and Pijaos (0,250) indigenous ethnic groups, while those of Planadas (0,402) and Ibagué (0,415) presented high values. Analyzes performed globally showed that Tolima populations are less heterozygous than ancestral populations. Conclusions: The Nasa native population is the one with the greatest conservation of the ancestral native variation reflected with the heterozygous analyzes and has a greater genetic distance concerning the mestizo populations.

Prenatal diagnosis of Wolf-Hirschhorn syndrome: a case report / 中华围产医学杂志

This study reported a case of fetal developmental retardation indicated by ultrasound from 17+2 to 34+5 gestations.Single nucleotide polymorphism (SNP) array was performed to detect the copy number variation in the whole genome for the fetus and parents.A 2.42 Mb deletion at 4p16.3 was found in the fetus,but in neither parents,which suggesting a de novo mutation.Thus,the fetus was finally diagnosed with Wolf-Hirschhorn syndrome.No obvious'Greek warrior helmet'appearance or other facial deformity was observed in the delivered fetus.

GENETIC DIVERSITY IN A POPULATION OF CREOLE MAIZE (Zea mays L.) EVALUATED BY MICROSATELLITE MARKERS IN PUERTO LIBERTADOR, CORDOBA / DIVERSIDAD GENÉTICA EN UNA POBLACIÓN DE MAÍZ CRIOLLO (Zea mays L.) EVALUADA MEDIANTE MARCADORES MICROSATÉLITES EN PUERTO LIBERTADOR, CÓRDOBA

ABSTRACT Maize a plant of Mesoamerican origin, has evolved in different microenvironments, generating the great diversity of maize that exists in the world. In order to determine the genetic diversity of a population of Creole maize, twelve microsatellite markers were evaluated in 30 accessions, in Puerto Libertador, Córdoba. The DNA of each accession was extracted using the PROMEGA kit, the markers were amplified by the PCR technique and the amplicons were run on polyacrylamide gels, the gels were digitalized and the molecular sizes were determined by an exponential model. Results showed a total of 66 alleles and an average of alleles of 5.5, the expected heterozygosity was 0.655, the values of the polymorphic information content (PIC) ranged from 0.352 to 0.838, with an average of 0.592 and the Hardy-Weinberg equilibrium showed imbalance (p <0.05). This work revealed that the studied accessions of Creole maize showed a high degree of polymorphism, high genetic variability and microsatellite markers were the appropriate for the evaluation of genetic diversity. This information shows to be useful for the conservation and protection of the genetic diversity of the studied Creole Maize.

RESUMEN El maíz una planta de origen mesoamericano, se ha desarrollado en los más variados microambientes, lo que ha generado una gran diversidad de variedades alrededor del mundo. Con el objetivo de determinar la diversidad genética de una población de maíz criollo, se evaluaron doce marcadores microsatélite, en 30 accesiones, en Puerto Libertador, Córdoba. El ADN de cada accesión fue extraído, mediante el kit de PROMEGA; los marcadores se amplificaron, mediante la técnica de PCR y los amplicones, se corrieron en geles de poliacrilamida. Los geles fueron digitalizados y los tamaños moleculares se determinaron, mediante un modelo exponencial. Los resultados mostraron un total de 66 alelos y un promedio de alelos de 5,5; la heterocigosidad esperada fue 0,655. Los valores del contenido de información polimórfica (PIC) variaron de 0,352 a 0,838, con un promedio de 0,592 y la prueba de Hardy-Weinberg mostró desequilibrio (p<0,05). Este trabajo reveló que las accesiones de maíz criollo estudiadas mostraron alto grado de polimorfismo, alta variabilidad genética y los marcadores microsatélites resultaron los apropiados para la evaluación de la diversidad genética. Esta información muestra ser útil para la conservación de la diversidad genética del maíz criollo estudiado y su protección.

Genetic Characterisation of Honey Bees (Apis mellifera) Populations from Kurdistan Region of Iraq via ISSR Markers

In the present study, to investigate genetic diversity and phylogenetic relationships among honey bee populations of Iraq ISSR markers were used. Sampling was carried out during summer 2017 from 5 cities of Iraq (Dahuk, Arbil, Sulaymaniyah, Kirkuk, and Kafri). Total DNA was extracted from the head and thorax sections of each worker honey bee, using salting out method with minor modifications. PCR amplification of genomic DNA was performed using 10 ISSR marker primers (A1, A2, A3, A4, A5, A6, A7, A8, A9 and A10). The primers yielded 50 polymorphic bands and number of bands were variable from 8-12 (average 9.62), and percentage of polymorphic loci was 73.6. The estimated genetic diversity for the populations ranged from 0.39 in Kafri population to 0.47 in Arbil population, and total genetic diversity among loci was calculated as 0.47 while average within population genetic diversity was 0.44. GST value was 0.085. The Phylogenetic tree showed two main clusters; the first one comprised of three populations (Dahuk, Arbil, and Sulaymaniyah), and the second one included two communities (Kirkuk and Kafri). Heterozygosity values, Shannon index and the number of alleles of honey bee populations were minimal that could be caused by low definite geographic structure of honey bee populations. This research provided new information regarding genetic diversity in selected local honeybee in Kurdistan region of Iraq and will be useful for selection, future local biodiversity conservation and controlled breeding programs.

Hemoglobinopatías y Malaria. ¿Están protegidos? / Hemoglobinopathies and Malaria. They are protected?

Se presenta el caso de un paciente femenina de 9 años procedente de Puerto Obaldía en la Comarca Guna Yala con heterocigocidad para HbS/Talasemia beta y parasitación por Plasmodium vivax.

We present the case of a 9-year-old female patient from Puerto Obaldía in the Comarca Guna Yala with heterozygosity for HbS / beta thalassemia and parasitism by Plasmodium vivax

Primer reporte de la variabilidad genética del gato (Felis catus), con marcadores fenotípicos en Coveñas, Sucre / First report of genetic variability in cats (Felis catus), with phenotypic markers, in Coveñas, Sucre / Primeiro repórter da variabilidade genética do gato (Felis catus), com marcadores fenotípicos em Coveñas, Sucre

Resumen El objetivo de esta investigación fue determinar la variabilidad genética de las poblaciones de gatos domésticos (Felis catus) utilizando genes que codifican la coloración, el diseño y la longitud del pelaje en Coveñas, Sucre, Colombia. Se realizaron muestreos aleatorios entre septiembre y diciembre de 2014, en 187 animales adultos presentes en cinco barrios de Coveñas, donde se caracterizó fenotípicamente cada animal. La nomenclatura utilizada está en concordancia con el Committee Standardized Genetic Nomenclature For Cats (1968), y atiende a los marcadores autosómicos de codificación morfológica: el locus ligado al sexo Orange (O) y los loci autosómicos non-agouti (a), tabby blotched (Tb), dilution (d), long hair (l) spotting white (s) y dominant white (W). Se calcularon los parámetros genéticos poblacionales: frecuencia alélica, diversidad genética, flujo génico, equilibrio Hardy-Weinberg y distancia genética, y se infirieron las relaciones filogenéticas entre las poblaciones de gatos. Se encontró que el marcador non-agouti fue el de mayor frecuencia, mientras los genes tabby blotched y dominant white presentaron los valores más bajos. La mayor parte de la diversidad genética se encontró dentro de las poblaciones (HS) y poca entre las poblaciones (D) y un elevado flujo génico. Se observó un exceso de heterocigotos en la población. No hubo equilibrio Hardy-Weinberg. Las poblaciones se encuentran muy relacionadas genéticamente. Además, se evidenció una posible selección natural y artificial del locus non-agouti.

Abstract This research aimed to determine genetic variability in domestic cat populations (Felis catus) using genes that codify the coloration, design and length of the coat in Coveñas, Sucre, Colombia. Random samples were collected between September and December 2014 from 187 adult animals in five neighborhoods of Coveñas, and each animal was characterized phenotypically. The nomenclature used in this research follows the Standardized Genetic Nomenclature for the Domestic Cat (1968), and examines the autosomal markers of morphological coding: the locus linked to sex Orange (O) and the autosomal loci Non-agouti (a), tabby blotched (Tb), dilution (d), long hair (l) spotting white (s) and dominant white (W). The genetic parameters of the population were calculated: allele frequency, genetic diversity, gene flow, Hardy-Weinberg equilibrium, and genetic distance; and phylogenetic relationships among cat populations were inferred. It was found that the Non-agouti marker was the most frequent, while the tabby blotched and dominant white genes had the lowest values. Most genetic diversity was found within the studied populations (HS), with little diversity between populations (D), and high gene flow was evidenced. An excess of heterozygotes was observed in the population. There was no Hardy-Weinberg equilibrium. Populations are genetically closely related. In addition, a possible natural and artificial selection of the Non-agouti locus was evidenced.

Resumo O objetivo desta pesquisa foi determinar a variabilidade genética das populações de gatos domésticos (Felis catus) utilizando genes que codificam a coloração, o desenho e a longitude da pelagem em Coveñas, Sucre, na Colômbia. Realizaram-se amostras aleatórias entre setembro e dezembro de 2014, em 187 animais adultos presentes em cinco bairros de Coveñas, onde se caracterizou fenotipicamente cada animal. A nomenclatura utilizada está em concordância com o Committee Standardized Genetic Nomenclature For Cats (1968), e atende a os marcadores autossômicos de codificação morfológica: o locus ligado a sexo Orange (O) e os loci autossômicos Non-agouti (a), tabby blotched (Tb), dilution (d), long hair (l) spotting white (s) e dominant white (W). Calcularam-se os parâmetros genéticos populacionais: frequência alélica, diversidade genética, fluxo génico, equilíbrio Hardy-Weinberg e distância genética, e se inferiram as relações filogenéticas entre as populações de gatos. Constatou-se que o marcador Non-agouti foi o de maior frequência, e enquanto que os genes tabby blotched e dominant white apresentaram os valores mais baixos. A maior parte da diversidade genética foi encontrada dentro das populações (HS) e pouca entre as populações (D) e um elevado fluxo génico. Observouse um excesso de heterozigotos na população. Não houve equilíbrio Hardy-Weinberg. As populações encontram-se muito relacionadas geneticamente. Além do mais, evidenciou-se uma possível seleção natural e artificial do locus Non-agouti.

Microarray-Based Genomic Analysis Identifies Germline and Somatic Copy Number Variants and Loss of Heterozygosity in Acute Myeloid Leukaemia

@#Introduction: Insights into molecular karyotyping using comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays enable the identification of copy number variations (CNVs) at a higher resolution and facilitate the detection of copy neutral loss of heterozygosity (CN-LOH) otherwise undetectable by conventional cytogenetics. The applicability of a customised CGH+SNP 180K DNA microarray in the diagnostic evaluation of Acute Myeloid Leukaemia (AML) in comparison with conventional karyotyping was assessed in this study. Methods: Paired tumour and germline post induction (remission sample obtained from the same patient after induction) DNA were used to delineate germline variants in 41 AML samples and compared with the karyotype findings. Results: After comparing the tumour versus germline DNA, a total of 55 imbalances (n 5-10 MB = 21, n 10-20 MB = 8 and n >20 MB = 26) were identified. Gains were most common in chromosome 4 (26.7%) whereas losses were most frequent in chromosome 7 (28.6%) and X (25.0%). CN-LOH was mostly seen in chromosome 4 (75.0%). Comparison between array CGH+SNP and karyotyping revealed 20 cases were in excellent agreement and 13 cases did not concord whereas in 15 cases finding could not be confirmed as no karyotypes available. Conclusion: The use of a combined array CGH+SNP in this study enabled the detection of somatic and germline CNVs and CN-LOHs in AML. Array CGH+SNP accurately determined chromosomal breakpoints compared to conventional cytogenetics in relation to presence of CNVs and CN-LOHs.