Frequência alélica e potencial regulatório de polimorfismosno gene NELL1 em uma população da Bahia ­ Brasil / Allele frequency and regulatory potential of polimorphisms in NELL1 gene in a population of Bahia ­ Brazil

Introdução: o gene NELL1 codifica a proteína semelhante ao fator de crescimento epidérmico (do inglês Epidermal Growth factor (EGF)-like). GWASs e estudos de associação com genes candidatos têm sido utilizados para estabelecer a conexão entre polimorfismos de nucleotídeo único (SNP) no NELL1 e diversas doenças. Objetivo: descrever a frequência alélica e o potencial regulatório dos polimorfismos do gene NELL1, estudados em uma população de Salvador (Bahia, Brasil) e descrever a frequência desses polimorfismos e a associação com diversas doenças, em populações africana, ameríndia, asiática e europeia. Metodologia: 1094 participantes foram recrutados através do Programa de Controle da Asma e da Rinite Alérgica no Estado da Bahia (ProAR). Os indivíduos tiveram o DNA genômico extraído e genotipado, utilizando-se a plataforma Illumina. Os SNP foram consultados através da plataforma SeattleSec Annotation. As bases de dados NCBI, RegulomeDB e Haploview 4.2 foram utilizadas para as análises. Resultados: foram analisados 346 SNPs do gene NELL1. Desses, 53 SNPs tiveram o MAF variando entre 50% e 40% e função intrônica. Os SNPs rs10833465 (alelo A), rs908944 (alelo C), rs1516766 (alelo A), rs10766739 (alelo G) e rs11025878 (alelo G) apresentam uma pontuação de 3, de acordo com o banco do RegulomeDB. O SNP rs7117671, com pontuação 2b, pode ter impacto regulatório e funcional. 101 SNPs apresentaram o MAF entre 39% e 20%. Dos polimorfismos menos frequentes nessa população, 192 apresentaram um MAF entre 19% e 2%. Discussão: alguns SNPs, com diferentes frequências, apresentaram alta probabilidade de impacto funcional. Foram encontrados, na literatura, estudos de associação dos SNPs e osteoporose, doenças metabólicas, condições inflamatórias, doenças neuropsiquiátricas e tumores malignos. Conclusão: ospolimorfismos do gene NELL1 estudados apresentaram diferentes frequências na população desse estudo e tiveram seus alelos associados a doenças em diferentes populações. Sugere-se que sejam realizados mais estudos.

Introduction: the NELL1 gene encodes the epidermal growth factor (EGF)-like protein. GWASs and association studies with candidate genes have been used to establish the connection between single nucleotide polymorphisms (SNP) in NELL1 and various diseases. Objective: to describe the allele frequency and regulatory potential of NELL1 gene polymorphisms studied in a population from Salvador, Bahia, Brazil; and to describe the frequency of these polymorphisms, and the association with various diseases, in African, Amerindian, Asian and European populations. Methodology: one thousand and ninety-four (1094) participants were recruited through the Program for the Control of Asthma and Allergic Rhinitis in the State of Bahia (ProAR). Individuals had their genomic DNA extracted and genotyped using the Illumina platform. The SNPs were consulted through the SeattleSec Annotation platform. The NCBI, RegulomeDB and Haploview 4.2 databases were used for the analyses. Results: four hundred and seventy-three (346) NELL1 gene SNPs were analyzed. Of these, 53 SNPs had MAF ranging between 50% and 40% and intronic function. The SNPs rs10833465 (A allele), rs908944 (C allele), rs1516766 (A allele), rs10766739 (G allele) and rs11025878 (G allele) showed a score of 3, according to the RegulomeDB database. SNP rs7117671, with score 2b, may have regulatory and functional impact. One hundred and eighteen (101) SNPs presented MAF between 39% and 20%. Of the less frequent polymorphisms in this population, 192 had a MAF between 19% and 2%. Discussion: some SNPs, with different frequencies, presented a high probability of functional impact. Studies on the association of SNPs and osteoporosis, metabolic diseases, inflammatory conditions, neuropsychiatric diseases and malignant tumors were found in the literature. Conclusion: the NELL1 gene polymorphisms studied showed different frequencies in the population of this study and had their alleles associated with diseases in different populations. It is suggested that further studies be carried out.

Behavior of the Genetic Markers at Screening during the First Trimester of Pregnancy in Euploid Fetuses / Comportamento dos marcadores genéticos na triagem durante o primeiro trimestre de gravidez em fetos euploides

Abstract Objective This study aims to describe the behavior of chromosomopathy screenings in euploid fetuses. Methods This is a prospective descriptive study with 566 patients at 11 to 14 weeks of gestation. The associations between ultrasound scans and serological variables were studied. For the quantitative variables we used the Spearman test; for the qualitative with quantitative variables the of Mann-Whitney U-test; and for qualitative variables, the X2 test was applied. Significance was set at p ≤ 0.05. Results We have found that gestational age has correlation with ductus venosus, nuchal translucency, free fraction of β subunit of human chorionic gonadotropin, pregnancy-associated plasma protein-A and placental growth factor; there is also a correlation between history of miscarriages and nasal bone. Furthermore, we correlated body mass index with nuchal translucency, free fraction of β subunit of human chorionic gonadotropin, and pregnancy-associated plasma protein-A. Maternal age was associated with free fraction of β subunit of human chorionic gonadotropin and pregnancy-associated plasma protein-A. Conclusion Our study demonstrates for the first time the behavior of the biochemical and ultrasonographic markers of chromosomopathy screenings during the first trimester in euploid fetuses in Colombia. Our information is consistent with international reference values. Moreover, we have shown the correlation of different variables with maternal characteristics to determine the variables that could help with development of a screening process during the first trimester with high detection rates.

Resumo Objetivo Este estudo tem como objetivo descrever o comportamento do rastreamento de cromossomopatias em fetos euploides. Métodos Trata-se de um estudo prospectivo descritivo com 566 pacientes, entre 11 e 14 semanas de gestação. A associação entre a ultrassonografia e as variáveis sorológicas foi estudada. Para as variáveis quantitativas foi utilizado o teste de Spearman; para as qualitativas com variáveis quantitativas foi utilizado o teste U de Mann-Whitney e para as variáveis qualitativas foi aplicado o teste X2. A significância foi fixada em p ≤ 0,05. Resultados Constatou-se que a idade gestacional tem correlação com o ducto venoso, translucência nucal, fração livre da subunidade β da gonadotrofina coriônica humana, proteína plasmática A associada à gravidez e fator de crescimento placentário; há também correlação entre a história de abortos e o osso nasal. Além disso, correlacionamos o índice de massa corporal com translucência nucal, fração livre da subunidade β da gonadotrofina coriônica humana e proteína plasmática A associada à gravidez. A idade materna foi relacionada com fração livre da subunidade β da gonadotrofina coriônica humana e proteína plasmática A associada à gravidez. Conclusão Nosso estudo demonstra pela primeira vez o comportamento dos marcadores bioquímicos e ultrassonográficos de triagem de cromossomas durante o primeiro trimestre em fetos euploides na Colômbia. Nossa informação é consistente com a referência de valores internacionais. Além disso, mostram-se as relações das diferentes variáveis com as características maternas para determinar as variáveis capazes de ajudar no desenvolvimento de um processo de rastreamento durante o primeiro trimestre com alta taxa de detecção.

Current status and prospect of biomarker research for schizophrenia / 中华检验医学杂志

Schizophrenia is a serious mental disease. The diagnosis of schizophrenia so far relies heavily on subjective evidence, including self-reported experiences by patients, manifestations described by relatives, and abnormal behaviors assessed by psychiatrists. The diagnosis, monitoring of the disease progression and therapy efficacy assessment are challenging due to the lack of established laboratory biomarkers. Based on the current literature, clinical consensus, guidelines, and expert recommendations, this review highlighted evidence-based potential laboratory biomarkers for the diagnosis of schizophrenia, including genetic biomarkers, neurotransmitters, neurodevelopmental-related proteins, and intestinal flora, and discussed the potential future directions for the application of these biomarkers in this field, aiming to provide an objective basis for the use of these biomarkers in the early and accurate diagnosis, treatment, and prognosis and rehabilitation assessment of schizophrenia.

PERSPECTIVES ON ANCESTRAL LINEAGES AND GENETIC MARKERS OF MALAY POPULATION IN PENINSULAR MALAYSIA (Perspektif Keturunan Dan Penanda Genetik Populasi Melayu Di Semenanjung Malaysia) / Jurnal Sains Kesihatan Malaysia

@#The Malay people are the majority in Peninsular Malaysia, but their population structure and genetic profile remain poorly studied. The exposure to the origins of Malays and their sub-ethnic groups is vital prior to study about their genetic profiles as it can narrow down the haplogroups of their ancestral lineages. In this review, we have highlighted theories related to the origin of Malays from Yunnan, New Guinea, Taiwan, Sundaland, Nusantara and the theory of Bani Jawi. Nevertheless, these theories were established based on speculations without evidence. Despite the theories developed, the migration of Malay population is more prominent during the era of Malacca Sultanate. The trading activities and seafaring way of life had welcomed various ethnic groups in Peninsular Malaysia which formed a part of the Malay population today. Thus, the origin of major sub-ethnic groups of Malay population are discussed in this paper. The origin of Malay community has a key relationship with modern genomic field that was conducted through mitochondrial DNA analysis. Human identification in forensic application is tedious due to the need for sequencing whole DNA profile of Malay population. Therefore, identification of specific genetic markers for Malay population is vital to facilitate forensic investigation. We gathered data by systematically searched with Google Scholar, Pubmed, Science Direct with advanced search builder for papers titles with Malay population and genetic markers. This study shed some light on the mitochondrial DNA markers of indigenous people and Malay population in Peninsular Malaysia which can be used in future prospects.

Analysis of the genetic diversity of Dragon fruit based on ISSR markers in Colombia

Abstract Selenicereus megalanthus H. is a tropical fruit belonging to the family Cactaceae, is rich in essential nutrients, antioxidants and bioactive components. It presents wide variability in different characteristics and a great demand in the market; however, genetic studies in Colombia are scarce. The main of this study was to characterize the genetic diversity of 76 yellow pitahaya genotypes with eight ISSR markers. Genetic parameters expected average heterozygosity (He), percentage of polymorphic loci, genetic distances and Fst were estimated with TFPGA. The analysis of the population genetic structure was carried out with the STRUCTURE 2.3.4. As a result, 225 alleles were generated and the number of polymorphic loci ranged 85 (CT, AG) to 90 (GT). High genetic diversity was found, with an average value of heterozygosity was 0.34 with a genetic differentiation coefficient (Fst) of 0.26, indicating that there was a great genetic diversity, similar values than those reported in other studies of pitahaya genetic diversity in Colombia. The 76 genotypes were grouped into K=3 according to geographic location, however, in some groups a mixture of individuals from different origins was observed. The analysis of molecular variance (AMOVA) showed higher variation (75%) within groups than among groups (25%). These results provide information that can be used to develop conservation strategies for dragon fruit and breeding programs to obtain more productive pitahaya genotypes with superior quality, high yield and with resistance to biotic and abiotic factors.

Resumo Selenicereus megalanthus H. é uma fruta tropical pertencente à família Cactaceae, rica em nutrientes essenciais, antioxidantes e componentes bioativos. Apresenta grande variabilidade em diferentes características e uma grande demanda no mercado; no entanto, os estudos genéticos na Colômbia são escassos. O principal deste estudo foi caracterizar a diversidade genética de 76 genótipos de pitahaya amarela com oito marcadores ISSR. Parâmetros genéticos esperados de heterozigosidade média (He), porcentagem de locos polimórficos, distâncias genéticas e Fst foram estimados com TFPGA. A análise da estrutura genética da população foi realizada com a ESTRUTURA 2.3.4. Como resultado, 225 alelos foram gerados e o número de loci polimórficos variou de 85 (CT, AG) a 90 (GT). Foi encontrada alta diversidade genética, com um valor médio de heterozigosidade de 0,34 com coeficiente de diferenciação genética (Fst) de 0,26, indicando que havia uma grande diversidade genética, valores semelhantes aos relatados em outros estudos de diversidade genética de pitahaya na Colômbia. Os 76 genótipos foram agrupados em K = 3 de acordo com a localização geográfica, porém, em alguns grupos foi observada uma mistura de indivíduos de diferentes origens. A análise de variância molecular (AMOVA) mostrou maior variação (75%) dentro dos grupos do que entre os grupos (25%). Esses resultados fornecem informações que podem ser utilizadas para desenvolver estratégias de conservação da fruta do dragão e programas de melhoramento para a obtenção de genótipos de pitahaya mais produtivos, com qualidade superior, alto rendimento e com resistência a fatores bióticos e abióticos.

Analysis of the genetic diversity of Dragon fruit based on ISSR markers in Colombia / Análise da diversidade genética da fruta do dragão com base em marcadores ISSR na Colômbia

Selenicereus megalanthus H. is a tropical fruit belonging to the family Cactaceae, is rich in essential nutrients, antioxidants and bioactive components. It presents wide variability in different characteristics and a great demand in the market; however, genetic studies in Colombia are scarce. The main of this study was to characterize the genetic diversity of 76 yellow pitahaya genotypes with eight ISSR markers. Genetic parameters expected average heterozygosity (He), percentage of polymorphic loci, genetic distances and Fst were estimated with TFPGA. The analysis of the population genetic structure was carried out with the STRUCTURE 2.3.4. As a result, 225 alleles were generated and the number of polymorphic loci ranged 85 (CT, AG) to 90 (GT). High genetic diversity was found, with an average value of heterozygosity was 0.34 with a genetic differentiation coefficient (Fst) of 0.26, indicating that there was a great genetic diversity, similar values than those reported in other studies of pitahaya genetic diversity in Colombia. The 76 genotypes were grouped into K=3 according to geographic location, however, in some groups a mixture of individuals from different origins was observed. The analysis of molecular variance (AMOVA) showed higher variation (75%) within groups than among groups (25%). These results provide information that can be used to develop conservation strategies for dragon fruit and breeding programs to obtain more productive pitahaya genotypes with superior quality, high yield and with resistance to biotic and abiotic factors.

Selenicereus megalanthus H. é uma fruta tropical pertencente à família Cactaceae, rica em nutrientes essenciais, antioxidantes e componentes bioativos. Apresenta grande variabilidade em diferentes características e uma grande demanda no mercado; no entanto, os estudos genéticos na Colômbia são escassos. O principal deste estudo foi caracterizar a diversidade genética de 76 genótipos de pitahaya amarela com oito marcadores ISSR. Parâmetros genéticos esperados de heterozigosidade média (He), porcentagem de locos polimórficos, distâncias genéticas e Fst foram estimados com TFPGA. A análise da estrutura genética da população foi realizada com a ESTRUTURA 2.3.4. Como resultado, 225 alelos foram gerados e o número de loci polimórficos variou de 85 (CT, AG) a 90 (GT). Foi encontrada alta diversidade genética, com um valor médio de heterozigosidade de 0,34 com coeficiente de diferenciação genética (Fst) de 0,26, indicando que havia uma grande diversidade genética, valores semelhantes aos relatados em outros estudos de diversidade genética de pitahaya na Colômbia. Os 76 genótipos foram agrupados em K = 3 de acordo com a localização geográfica, porém, em alguns grupos foi observada uma mistura de indivíduos de diferentes origens. A análise de variância molecular (AMOVA) mostrou maior variação (75%) dentro dos grupos do que entre os grupos (25%). Esses resultados fornecem informações que podem ser utilizadas para desenvolver estratégias de conservação da fruta do dragão e programas de melhoramento para a obtenção de genótipos de pitahaya mais produtivos, com qualidade superior, alto rendimento e com resistência a fatores bióticos e abióticos.

La evidencia científica de las consecuencias de la modernidad / Scientific evidence of the consequences of modernity

Resumen La prevalencia de diabetes tipo 2 (DT2) en México es del 14.4%. La enfermedad se caracteriza por un estado de hiperglucemia e inflamación crónica secundaria a la resistencia y la secreción inadecuada de insulina. Dentro de sus factores de riesgo destacan la obesidad, el sedentarismo, las dietas hipercalóricas y las variantes genéticas. Durante décadas, diferentes grupos de investigación básica y aplicada han trabajado de forma interdisciplinaria para ofrecer evidencia científica que ha ayudado a entender los mecanismos implicados en la fisiopatología de la DT2 en pacientes mexicanos. Sin embargo, hoy en día la urgencia de conseguir mejores propuestas de prevención y manejo del paciente con DT2 hace necesario el uso de la medicina traslacional, que integra el conocimiento científico con el uso de tecnologías innovadoras para brindar una atención integral. El presente documento describe de forma concisa y con un enfoque traslacional las implicaciones de la interacción de factores de riesgo ambientales y genéticos en el desarrollo de obesidad infantil y DT2 en México.

Abstract The prevalence of type 2 diabetes (T2D) in Mexico is 14.4%. This disease is characterized by a state of hyperglycemia and chronic inflammation secondary to inadequate insulin secretion and its resistance. Among its risk factors for metabolic diseases development, the interaction between obesity, sedentary lifestyle, hypercaloric diets and genetic variants play an important role. For decades, different basic and applied research groups have worked in an interdisciplinary way to provide scientific evidence that has helped to understand the mechanisms involved in the pathophysiology of T2D in Mexicans. However, today the urgency of the advance and better proposals for prevention and management of patients with T2D makes it necessary to use translational medicine, which integrates scientific knowledge with the use of innovative technologies to provide comprehensive health care. In this sense, the present document concisely describes, with a translational approach, the implications of the interaction of environmental and genetic risk factors in the development of childhood obesity and T2D in Mexico.

Genetic polymorphisms and protein levels in vocal fold leukoplakia: a systematic review

Vocal fold leukoplakia (VFL) has a risk of malignant transformation. Therefore, patients can have symptoms such as dysphonia, vocal strain, difficulty breathing, and dysphagia. Additionally, there is a genetic predisposition that can be associated with genetic polymorphisms. We aimed to evaluate the influence of genetic polymorphisms and protein levels in the etiology of VFL. Our study followed the PRISMA checklist and was registered on PROSPERO database. The questions were: "Are genetic polymorphisms involved in the etiology of VFL? Are protein levels altered in patients with VFL?". Eligibility criteria were case control studies that compared the presence of polymorphisms or/and protein levels of subjects diagnosed with VFL and healthy controls. Of the 905 articles retrieved, five articles with a total of 1038 participants were included in this study. The C allele of the single nucleotide polymorphisms (SNP)-819 T/C IL-10, A allele of the SNP -592 A/C IL-10, CT genotype of the SNP rs11886868 C/T BCL11A, GG genotype of the SNP rs4671393 A/G BCL11A, LL genotype, and L allele of (GT)n repeat polymorphisms of the HO-1 were risk factors for VFL development. Nevertheless, there was a lack of association between VFL and the -1082 A/G IL-10, rs14024 CK-1, and -309 T/G Mdm2 SNPs. The concentrations of the MDM2, BCL11A, and HO-1 proteins were modified, while IL-10 levels were normally expressed in these subjects. In conclusion, most markers evaluated in this review could be potential indicators to develop effective therapies, avoiding a malignant transformation of the lesion.

DD Genotype and Atherosclerosis in Overweight Menopausal Women

Abstract Background Sex-specific pathology of coronary artery disease (CAD) has not been recognized. Women with obstructive or nonobstructive CAD associated with traditional risk factors have similar events; no studies have explored both populations in association with genetic markers. Objective To evaluate the DD genotype in overweight menopausal women and its association with CAD and traditional risk factors. Method This cross-sectional study included 356 menopausal women who underwent coronary angiography as CAD assessment. The patients' DNA was extracted and polymorphisms were detected with a single polymerase chain reaction assay. Two groups were formed based on luminal lesions (normal [n = 134] or pathological [n = 222]) with a cutoff value > 30%, considering overweight and age. The chi-square test, Student's t-test, and multivariate logistic regression were performed as appropriate (p < 0.05) using the following variables: overweight, diabetes, hypertension, dyslipidemia, smoking status, sedentary lifestyle, and a family history of CAD. Results The mean age of the sample was 63 + 8 years, and the mean BMI was 28 + 5 kg/m2. The DD genotype was slightly more prevalent in the pathological group (30.2% vs. 21.6%, p = 0.079), but this significantly changed when BMI > 25 was considered (33% vs. 18%, p = 0.012). In multivariate analysis with two threshold levels (> 50 and > 60 years), diabetes was significantly associated with CAD in both models (p = 0.021 vs. 0.009) but the genotype was only associated with younger age (p = 0.034). Conclusion These data support an association between atherosclerosis and the renin-angiotensin system in overweight menopausal women that is dependent on the age at which the ischemic event occurs.

Forensic Application of Next Generation Sequencing Technology in the Typing of Y Chromosome Genetic Markers / 法医学杂志

The paternal inheritance characteristics of Y chromosome have been widely used in the forensic genetics field to detect the genetic markers in the non-recombining block, and used in the studies such as, genetic relationship identification, mixed stain detection, pedigree screen and ethnicity determination. At present, capillary electrophoresis is still the most common detection technology. The commercial detection kits and data analysis and processing system based on this technology are very mature. However, the disadvantages of traditional detection technology have gradually appeared with the rapid growth of bio-information amount, which promotes the renewal of forensic DNA typing technology. In recent years, next generation sequencing （NGS） technology has developed rapidly. This technology has been applied to various fields including forensic genetics and has provided new techniques for the detection of Y chromosome genetic markers. This article describes the current situation and application prospects of the NGS technology in forensic Y chromosome genetic markers detection in order to provide new ideas for future judicial practice.

Genomics and animal production / Genómica y producción animal

Abstract Developing countries have the challenge of achieving food security in a world context that is affected by climate change and global population growth. Molecular Genetics and genomics are proposed as technologies that will help to achieve sustainable food security. Technologies that have been developed in the last decade such as the development of genetic markers, genetic maps, genomic selection, next-generation sequencing, and DNA editing systems are discussed. Examples of some discoveries and achievements are provided.

Resumen Los países en vías de desarrollo tienen el reto de alcanzar seguridad alimentaria en un contexto mundial afectado por el cambio climático y crecimiento poblacional global. La genética molecular y la genómica son propuestas como tecnologías que ayudarán a alzanzar una seguridad alimentaria sostenible. Tecnologías que han sido desarrolladas en la última década como el desarrollo de marcadores moleculares, mapeo genético, selección genómica, secuenciamiento de próxima generación y sistemas de edición de ADN son discutidos. Se proveen ejemplos de algunos descubrimientos y logros.

Research Progress on Therapeutic Drug Monitoring for Thiopurine Therapy in Inflammatory Bowel Disease / 胃肠病学

Thiopurine is widely used in the management of inflammatory bowel disease (IBD). However, 15% to 30% of patients discontinue therapy because of adverse reactions or lack of clinical efficacy. Guidelines and consensus recommend that therapeutic drug monitoring (TDM) should be performed in thiopurine therapy of IBD, including detection of genetic markers before initiating treatment to predict the occurrence of adverse reactions and monitoring the metabolites to optimize the regimen. This article reviewed the research progress on TDM for thiopurine therapy in IBD.

Research Progress on Complex Kinship Analysis / 法医学杂志

Complex kinship analysis refers to a kind of special kinship analysis taken for the purpose of personal identification or other issues in civil or criminal cases because the father or （and） mother is dead, or cannot participate in the analysis for other reasons. Due to the absence of significant appraised persons in this kind of kinship analysis, grandparents, siblings or collateral relatives are required to participate in the analysis. Complex kinship analysis is widely used and the demand is increasing year by year. This paper analyzes the main types of complex kinships, the genetic markers of complex kinship analysis and their advantages and disadvantages and the calculation methods for complex kinship analysis by referring to the relevant literatures at home and abroad in recent years. At the same time, the shortcomings of the present research on complex kinship and its future development are prospected.

Implicaciones éticas de la identificación del potencial atlético infantil mediante pruebas genéticas / Ethical implications of the identification of children´s athletic potential through genetic testing

Introducción: La irrupción de la investigación genética en la esfera del deporte ha permitido la localización en el genoma de un considerable número de genes implicados en el rendimiento deportivo y, con ello, el desarrollo de tecnologías genéticas orientadas a la identificación del potencial atlético en niños, cuya aplicación, dada su relativa juventud, debe ser sometida al escrutinio de la comunidad científica desde el prisma de la ética. Objetivo: Evaluar, desde una perspectiva ética, el uso de tecnologías genéticas en la identificación del potencial atlético en niños. Material y métodos: Para la elaboración de la presente revisión, además de la consulta de publicaciones no seriadas, se efectuó una pesquisa en la base de datos Scopus. Resultados: En la actualidad se conocen más de 200 marcadores genéticos relacionados con la predisposición para la aptitud física y al menos 120 vinculados directamente con el rendimiento atlético de élite, información que ha sido utilizada por numerosas compañías para desarrollar los llamados Tests Directos al Consumidor, que pretenden identificar el potencial atlético en niños a partir de su genotipo, sin necesidad de consultar a un especialista. Conclusiones: El uso de tecnologías genéticas en la determinación del potencial atlético en niños no solo viola el espíritu del deporte, sino que también tiene el potencial de causar efectos nocivos en el individuo a nivel psicológico y social; razones por las que es éticamente inadmisible su uso en futuros atletas(AU)

Introduction: The emergence of genetic research in the field of sports has allowed the location of the genome of a considerable number of genes involved in sports performance and thus, the development of genetic technologies aimed at the identification of the athletic potential in children whose application, given its relative youth, should be subject to the review of the scientific community through the prism of ethics. Objective: To evaluate, from an ethical perspective, the use of genetic technologies in the identification of the athletic potential in children. Materials and methods: A search in Scopus database and the consultation of non-serial publications were carried out for the development of this review. Results: Currently, there are more than 200 genetic markers related to the predisposition for physical fitness and, at least, 120 of them are directly linked to elite athletic performance. This information has been used by many companies to develop the so-called Direct-to-Consumer Tests, which aim to identify the athletic potential in children from their genotype, without any need to consult a specialist. Conclusions: The use of genetic technologies in the determination of athletic potential in children not only violates the spirit of sport, but also has the potential to cause harmful effects on the individual at psychological and social levels, reasons why their use is ethically inadmissible in future athletes(AU)

Transcriptome sequencing and de novo analysis of the northern snakehead, Ophiocephalus argus

Northern snakehead, Ophiocephalus argus Cantor, is an endemic freshwater fish in China. However, wild stocks of O. argus are dwindling sharply. Further, water conservancy projects, environmental pollution and human activities have caused the decrease of wild stocks, which has attracted much attention. Here, we have investigated the genomic information of O. argus using IlluminaHiseq 4000 sequencing. The transcriptomes of O. argus were sequenced by Illumina technology. A total of 67,564 sequences from 79,500,964 paired-end reads were generated, 33,710 unigenes were annotated based on protein databases (NCBI nonredundant (NR) databases). In total, 7182 unigenes had the clusters of orthologous group (COG) classifications, 33,710 unigenes were assigned to 59 gene ontology (GO) terms. Further, a total of 21,464 simple sequence repeats (SSRs) from 67,564 unigenes and 113,518 single nucleotide polymorphism (SNP) sites among 335 Mclean reads were yielded for O. argus based on a transcriptome-wide search. The new transcriptome data which is presented in this study for O. argus will provide valuable information for gene discovery and downstream applications, such as phylogenetic analysis, gene-expression profiling and identification of genetic markers (SSRs andSNP).

Karyotype ana1ysis of small supernumerary marker chromosome in 20 486 samples for prenatal diagnosis / 中华围产医学杂志

Objective To investigate the detection rate,clinical indications and pregnancy outcomes of pregnancies with prenatally diagnosed small supernumerary marker chromosome (sSMC) to provide a theoretical foundation for prenatal diagnosis and genetic counseling of sSMC.Methods This study retrospectively analyzed the clinical data of 20541 cases who underwent prenatal diagnosis at the Prenatal Diagnostic Center in the Department of Obstetrics and Gynecology in Peking University First Hospital from January 2007 to May 2018.The detection rate,diagnostic indications and pregnancy outcomes of the cases with sSMC were analyzed after cell culture and karyotyping.Array comparative genomic hybridization (aCGH) was used to analyze the origin of fetal abnormal chromosome in some cases.Results Prenatal diagnostic samples of 20486 cases were successfully cultured,among which 20 (sSMC) were detected giving an detection rate of 0.98‰,while the figures in samples obtained through chorionic villus sampling,amniocentesis and umbilical cord blood sampling were 2.20 ‰ (2/910),0.74 ‰ (14/18824) and 5.32 ‰ (4/752),respectively.Twelve cases of mosaic karyotype were also found.In gravidas for prenatal diagnosis indicated by maternal or paternal chromosomal abnormality,fetal structural anomalies on ultrasonography,adverse pregnant history,advanced maternal age and high risk of Down's syndrome,the detection rates of sSMC were 10.42 ‰ (1/96),2.65 ‰ (4/1507),1.89 ‰ (5/2 643),0.83‰ (8/9 624) and 0.49‰ (2/4013),respectively.Eleven cases were further analyzed with aCGH,four of which showed pathogenic copy number variants involving 2q11.1-q12.1,2p12-p11.1 and 2q11.1-q12.1,7q 11.21-q 11.23 and 15q11.1-q 13.3 dup1ications and terminated the pregnancies.Seven cases carried nonpathogenic marker chromosomes,of which one terminated the pregnancy,while the other six continued to fullterm with uneventful outcomes until follow-ups.Conclusions sSMC is hard to detect in prenatal diagnosis,but maternal or paternal chromosomal abnormalities,fetal structural anomalies on ultrasonography and adverse pregnancy and childbirth history are strong indications.Cytogenetics and molecular diagnosis combined can clarify the character,origin and pathogenicity of sSMC,and is of great clinical importance in prenatal genetic counseling and maternal decision making.

Application of Multiple Genetic Markers in Determination of Full and Half Sibling Relationship： A Case Report / 法医学杂志

Objective To investigate the application of the comprehensive use of multiple genetic markers in full and half sibling relationship testing through the identification of a case of suspected sibling relationship. Methods Genomic DNA were extracted from bloodstain samples from 4 subjects （ZHANG-1, ZHANG-2, male; ZHANG-3, ZHANG-4, female）. Autosomal STR loci, X-STR, Y-STR loci and polymorphisms of mtDNA HV-Ⅰ and Ⅱwere genotyped by EX20 STR kit, X19 kit, Data Y24 STR kit, and Sanger sequencing, respectively. Results According to autosomal STR based IBS scoring results, full sibling relationships were indicated among ZHANG-2, ZHANG-3 and ZHANG-4, but those were not indicated between ZHANG-1 and ZHANG-2 or ZHANG-3 or ZHANG-4. According to autosomal STR based FSI and HSI, with ITO method and discriminant function method, full sibling relationships among ZHANG-2, ZHANG-3 and ZHANG-4 were indicated, and half sibling relationships between ZHANG-1 and ZHANG-2 or ZHANG-3 or ZHANG-4 were also indicated. X-STR and mtDNA sequencing results showed that all the 4 samples came from a same maternal line, and Y-STR results showed that ZHANG-1 and ZHANG-2 did not come from a same paternal line, which supported the half sibling relationship between ZHANG-1 and ZHANG-2 or ZHANG-3 or ZHANG-4, verified by parental genotype reconstruction based on autosomal STR genotyping. Conclusion For the identification of sibling relationships, it is effective to have reliable results with the mutual verification and support of multiple genetic markers （autosomal STR, sex chromosomal STR and mtDNA sequence） and calculations （IBS, ITO, discriminant function method and family reconstruction）.

Establishment of DNA Genetic Marker Identification System for Plant Evidence / 法医学杂志

Objective To establish a species identification system based on DNA genetic markers for plant evidence. Methods Two hundred common plants in Shanghai were collected and identified by mor-phological characteristics. The primers of gene segments rbcL, matK, and ITS were designed and amplified. The PCR amplicon was detected by agarose gel electrophoresis. After the sequencing, the universality and the identification capacity of the three markers were evaluated. Results The success rate of amplifi-cation was in order of rbcL (99.5％) >matK (92.5％) > ITS (86.0％). The identification capacity of the combination of rbcL and matK was better than that of rbcL or matK, by which most plant species could be identified to the genus or higher. ITS was not suitable to be a unique marker because of its unstable result, but it still could be a powerful supplement. The identification capacity of the combination of rbcL, matK and ITS was higher than that of rbcL and matK, by which most plant species could be identified to the genus or lower. Conclusion The identification system with the combination of rbcL, matK and ITS as markers has excellent universality for plant evidence, which can distinguish most plant species to the genus or lower.

Research Progress of CircRNA and Its Application Prospect in Forensic Medicine / 法医学杂志

Circular RNA(circRNA)is a type of noncoding RNA with tissue specificity and high stabil-ity, which forms a closed continuous loop and is abundantly expressed in tissue cells. According to re-cent research, the regulatory function of circRNA elucidating in the occurrence and development of dis-ease shows a potential for diagnosing clinical disease and revealing disease mechanism. This paper re-views the biological characteristics, analysis methods of circRNA and its research progress in clinical ap-plication as biomarker, and outlooks its application in the field of forensic medicine.