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1.
Int J Mol Sci ; 22(6)2021 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-33806855

RESUMO

Azoospermia affects 1% of men, and it can be due to: (i) hypothalamic-pituitary dysfunction, (ii) primary quantitative spermatogenic disturbances, (iii) urogenital duct obstruction. Known genetic factors contribute to all these categories, and genetic testing is part of the routine diagnostic workup of azoospermic men. The diagnostic yield of genetic tests in azoospermia is different in the different etiological categories, with the highest in Congenital Bilateral Absence of Vas Deferens (90%) and the lowest in Non-Obstructive Azoospermia (NOA) due to primary testicular failure (~30%). Whole-Exome Sequencing allowed the discovery of an increasing number of monogenic defects of NOA with a current list of 38 candidate genes. These genes are of potential clinical relevance for future gene panel-based screening. We classified these genes according to the associated-testicular histology underlying the NOA phenotype. The validation and the discovery of novel NOA genes will radically improve patient management. Interestingly, approximately 37% of candidate genes are shared in human male and female gonadal failure, implying that genetic counselling should be extended also to female family members of NOA patients.


Assuntos
Azoospermia/diagnóstico , Azoospermia/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Alelos , Animais , Biomarcadores , Deleção Cromossômica , Cromossomos Humanos Y , Feminino , Testes Genéticos , Humanos , Masculino , Fenótipo , Espermatogênese/genética , Sequenciamento Completo do Exoma
2.
Nat Commun ; 12(1): 2080, 2021 04 07.
Artigo em Inglês | MEDLINE | ID: mdl-33828095

RESUMO

South Eastern Bantu-speaking (SEB) groups constitute more than 80% of the population in South Africa. Despite clear linguistic and geographic diversity, the genetic differences between these groups have not been systematically investigated. Based on genome-wide data of over 5000 individuals, representing eight major SEB groups, we provide strong evidence for fine-scale population structure that broadly aligns with geographic distribution and is also congruent with linguistic phylogeny (separation of Nguni, Sotho-Tswana and Tsonga speakers). Although differential Khoe-San admixture plays a key role, the structure persists after Khoe-San ancestry-masking. The timing of admixture, levels of sex-biased gene flow and population size dynamics also highlight differences in the demographic histories of individual groups. The comparisons with five Iron Age farmer genomes further support genetic continuity over ~400 years in certain regions of the country. Simulated trait genome-wide association studies further show that the observed population structure could have major implications for biomedical genomics research in South Africa.


Assuntos
Grupo com Ancestrais do Continente Africano/genética , Demografia , Fluxo Gênico , Estudo de Associação Genômica Ampla , Idioma , Cromossomos Humanos Y/genética , Grupos Étnicos , Feminino , Frequência do Gene , Variação Genética , Genética Populacional , Genômica , Geografia , Haplótipos , Humanos , Linguística , Masculino , Filogenia , África do Sul
3.
BMC Bioinformatics ; 22(1): 114, 2021 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-33750289

RESUMO

BACKGROUND: Y-chromosome DNA (Y-DNA) has been used for tracing paternal lineages and offers a clear path from an individual to a known, or likely, direct paternal ancestor. The advance of next-generation sequencing (NGS) technologies increasingly improves the resolution of the non-recombining region of the Y-chromosome (NRY). However, a lack of suitable computer tools prevents the use of NGS data from the Y-DNA studies. RESULTS: We developed Y-LineageTracker, a high-throughput analysis framework that not only utilizes state-of-the-art methodologies to automatically determine NRY haplogroups and identify microsatellite variants of Y-chromosome on a fine scale, but also optimizes comprehensive Y-DNA analysis methods for NGS data. Notably, Y-LineageTracker integrates the NRY haplogroup and Y-STR analysis modules with recognized strategies to robustly suggest an interpretation for paternal genetics and evolution. NRY haplogroup module mainly covers haplogroup classification, clustering analysis, phylogeny construction, and divergence time estimation of NRY haplogroups, and Y-STR module mainly includes Y-STR genotyping, statistical calculation, network analysis, and estimation of time to the most recent common ancestor (TMRCA) based on Y-STR haplotypes. Performance comparison indicated that Y-LineageTracker outperformed existing Y-DNA analysis tools for the high performance and satisfactory visualization effect. CONCLUSIONS: Y-LineageTracker is an open-source and user-friendly command-line tool that provide multiple functions to efficiently analyze Y-DNA from NGS data at both Y-SNP and Y-STR level. Additionally, Y-LineageTracker supports various formats of input data and produces high-quality figures suitable for publication. Y-LineageTracker is coded with Python3 and supports Windows, Linux, and macOS platforms, and can be installed manually or via the Python Package Index (PyPI). The source code, examples, and manual of Y-LineageTracker are freely available at https://www.picb.ac.cn/PGG/resource.php or CodeOcean ( https://codeocean.com/capsule/7424381/tree ).


Assuntos
Cromossomos Humanos Y , Sequenciamento de Nucleotídeos em Larga Escala , Polimorfismo de Nucleotídeo Único , Cromossomos Humanos Y/genética , Genética Populacional , Haplótipos , Humanos , Repetições de Microssatélites
4.
Fa Yi Xue Za Zhi ; 37(1): 91-98, 2021 Feb.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-33780192

RESUMO

Abstract: 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.


Assuntos
Genética Forense , Sequenciamento de Nucleotídeos em Larga Escala , Cromossomos Humanos Y/genética , Impressões Digitais de DNA , Marcadores Genéticos , Humanos , Repetições de Microssatélites , Tecnologia , Cromossomo Y
5.
Hum Biol ; 92(2): 63-80, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33639638

RESUMO

Haplogroup Q originated in Eurasia around 30,000 years ago. It is present in Y-chromosomes from Asia and Europe at rather low frequencies. Since America is undoubtedly one of the continents where this haplogroup is highly represented, it has been defined as one of the founding haplogroups. Its M3 clade has been early described as the most frequent, with pan-American representation. However, it was also possible to find several other haplogroup Q clades at low frequencies. Numerous mutations have been described for haplogroup Q, allowing analysis of its variability and assignment of its geographic origin. We have analyzed 442 samples of unrelated men from Argentina and Paraguay belonging to haplogroup Q; here we report specifically on 27 Q (xM3) lineages. We tested 3 single-nucleotide polymorphisms (SNPs) by amplified product-length polymorphism (APLP) analysis, 3 SNPs for restriction fragment length polymorphism (RFLP) analysis, 15 SNPs by Sanger sequencing, and 17 short tandem repeats (STRs). Our approach allowed us to identify five subhaplogroups. Q-M3 and Q-CTS2730/Z780 are undoubtedly autochthonous lineages and represent the most frequent subhaplogroups, with significant representation in self-defined aboriginal populations, and their autochthonous status has been previously described. The aim of present work was to identify the continental origin of the remaining Q lineages. Thus, we analyzed the STR haplotypes for the samples and compared them with haplotypes described by other authors for the rest of the world. Even when haplogroup Q lineages have been extensively studied in America, some of them could have their origin in post-Columbian human migration from Europe and Middle East.


Assuntos
Cromossomos Humanos Y , Genética Populacional , América , Argentina , Ásia , Cromossomos Humanos Y/genética , Europa (Continente) , Haplótipos/genética , Humanos , Masculino , Repetições de Microssatélites , Oriente Médio , Paraguai , Filogenia , Polimorfismo de Nucleotídeo Único/genética
6.
Am J Phys Anthropol ; 174(4): 686-700, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33555039

RESUMO

OBJECTIVES: The aim of this research was to explore the origin, diversification, and demographic history of O1a-M119 over the past 10,000 years, as well as its role during the formation of East Asian and Southeast Asian populations, particularly the Han, Tai-Kadai-speaking, and Austronesian-speaking populations. MATERIALS AND METHODS: Y-chromosome sequences (n = 141) of the O1a-M119 lineage, including 17 newly generated in this study, were used to reconstruct a revised phylogenetic tree with age estimates, and identify sub-lineages. The geographic distribution of 12 O1a-M119 sub-lineages was summarized, based on 7325 O1a-M119 individuals identified among 60,009 Chinese males. RESULTS: A revised phylogenetic tree, age estimation, and distribution maps indicated continuous expansion of haplogroup O1a-M119 over the past 10,000 years, and differences in demographic history across geographic regions. We propose several sub-lineages of O1a-M119 as founding paternal lineages of Han, Tai-Kadai-speaking, and Austronesian-speaking populations. The sharing of several young O1a-M119 sub-lineages with expansion times less than 6000 years between these three population groups supports a partial common ancestry for them in the Neolithic Age; however, the paternal genetic divergence pattern is much more complex than previous hypotheses based on ethnology, archeology, and linguistics. DISCUSSION: Our analyses contribute to a better understanding of the demographic history of O1a-M119 sub-lineages over the past 10,000 years during the emergence of Han, Austronesians, Tai-Kadai-speaking populations. The data described in this study will assist in understanding of the history of Han, Tai-Kadai-speaking, and Austronesian-speaking populations from ethnology, archeology, and linguistic perspectives in the future.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Cromossomos Humanos Y/genética , Grupos Étnicos/genética , Genética Populacional/métodos , Haplótipos/genética , Antropologia Física , Grupo com Ancestrais do Continente Asiático/classificação , China , Grupos Étnicos/classificação , Humanos , Masculino
7.
Br J Cancer ; 124(7): 1184-1186, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33469152

RESUMO

Major differences in survival of men and women from infectious diseases and cancers have been highlighted by death rates from COVID-19 infections. In cancer, attention has been focussed on differences in gene expression from X chromosomes in men and women with a preponderance of genes involved in immune responses being expressed in women. Important findings have been that some of the genes are important epigenetic regulators that play fundamental roles in immune responses.


Assuntos
Infecções/metabolismo , Neoplasias/mortalidade , Fatores Sexuais , /mortalidade , Cromossomos Humanos X , Cromossomos Humanos Y , Feminino , Predisposição Genética para Doença , Humanos , Taxa de Sobrevida
8.
Proc Natl Acad Sci U S A ; 118(1)2021 01 05.
Artigo em Inglês | MEDLINE | ID: mdl-33443177

RESUMO

Humans reached the Mariana Islands in the western Pacific by ∼3,500 y ago, contemporaneous with or even earlier than the initial peopling of Polynesia. They crossed more than 2,000 km of open ocean to get there, whereas voyages of similar length did not occur anywhere else until more than 2,000 y later. Yet, the settlement of Polynesia has received far more attention than the settlement of the Marianas. There is uncertainty over both the origin of the first colonizers of the Marianas (with different lines of evidence suggesting variously the Philippines, Indonesia, New Guinea, or the Bismarck Archipelago) as well as what, if any, relationship they might have had with the first colonizers of Polynesia. To address these questions, we obtained ancient DNA data from two skeletons from the Ritidian Beach Cave Site in northern Guam, dating to ∼2,200 y ago. Analyses of complete mitochondrial DNA genome sequences and genome-wide SNP data strongly support ancestry from the Philippines, in agreement with some interpretations of the linguistic and archaeological evidence, but in contradiction to results based on computer simulations of sea voyaging. We also find a close link between the ancient Guam skeletons and early Lapita individuals from Vanuatu and Tonga, suggesting that the Marianas and Polynesia were colonized from the same source population, and raising the possibility that the Marianas played a role in the eventual settlement of Polynesia.


Assuntos
Cromossomos Humanos Y/genética , DNA Antigo/análise , DNA Mitocondrial/genética , Migração Humana/história , Grupo com Ancestrais Oceânicos/genética , Arqueologia , Simulação por Computador , Genoma , Guam , Haplótipos , História Antiga , Humanos , Indonésia , Micronésia , Nova Guiné , Filipinas , Filogenia , Polimorfismo de Nucleotídeo Único , Polinésia , Vanuatu
9.
Zhonghua Nan Ke Xue ; 26(9): 811-814, 2020 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-33377705

RESUMO

Objective: To investigate the association of gr/gr, b2/b3 and gr/gr with b1-2/b3-4 deletions (repetitions) in the AZFc region of the Y chromosome with recurrent spontaneous abortion (RSA). METHODS: Using the next-generation sequencing technology, we examined the men with indications of Y chromosome microdeletion at our center from June 2017 to March 2018 and excluded the common causes of RSA through inquiry and other related examinations. Totally, 170 cases of AZFc deletion (80 cases of gr/gr deletion, 75 cases of b2/b3 deletion, and 15 cases of gr/gr with b1-2/b3-4 deletion) were detected and included in the case group, and another 328 normal males enlisted as controls. We analyzed the correlation of Y chromosome microdeletions with the incidence rate of RSA. RESULTS: The incidence rate of RSA was significantly higher in the case group than in the normal controls (28.8% ï¼»49/170ï¼½ vs 13.1% ï¼»43/328ï¼½, P < 0.01), 22.5% (18/80) in the gr/gr deletion cases (P < 0.05), 30.7% (23/75) in the b2/b3 deletion cases (P < 0.01), and 53.3% (8/15) in the gr/gr with b1-2/b3-4 deletion cases (P < 0.01), remarkably lower in the gr/gr than in the gr/gr with b1-2/b3-4 deletion subgroup (P < 0.05), but with no statistically significant difference between the other subgroups. CONCLUSIONS: The gr/gr, b2/b3, and gr/gr with b1-2/b3-4 deletions (repetitions) in the AZFc region of the Y chromosome may cause recurrent spontaneous abortion.


Assuntos
Aborto Habitual/genética , Deleção Cromossômica , Cromossomos Humanos Y/genética , Aberrações dos Cromossomos Sexuais , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Gravidez
10.
PLoS One ; 15(12): e0244497, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33382772

RESUMO

Many native populations in South America have been severely impacted by two relatively recent historical events, the Inca and the Spanish conquest. However decisive these disruptive events may have been, the populations and their gene pools have been shaped markedly also by the history prior to the conquests. This study focuses mainly on the Chachapoya peoples that inhabit the montane forests on the eastern slopes of the northern Peruvian Andes, but also includes three distinct neighboring populations (the Jívaro, the Huancas and the Cajamarca). By assessing mitochondrial, Y-chromosomal and autosomal diversity in the region, we explore questions that have emerged from archaeological and historical studies of the regional culture (s). These studies have shown, among others, that Chachapoyas was a crossroads for Coast-Andes-Amazon interactions since very early times. In this study, we examine the following questions: 1) was there pre-Hispanic genetic population substructure in the Chachapoyas sample? 2) did the Spanish conquest cause a more severe population decline on Chachapoyan males than on females? 3) can we detect different patterns of European gene flow in the Chachapoyas region? and, 4) did the demographic history in the Chachapoyas resemble the one from the Andean area? Despite cultural differences within the Chachapoyas region as shown by archaeological and ethnohistorical research, genetic markers show no significant evidence for past or current population substructure, although an Amazonian gene flow dynamic in the northern part of this territory is suggested. The data also indicates a bottleneck c. 25 generations ago that was more severe among males than females, as well as divergent population histories for populations in the Andean and Amazonian regions. In line with previous studies, we observe high genetic diversity in the Chachapoyas, despite the documented dramatic population declines. The diverse topography and great biodiversity of the northeastern Peruvian montane forests are potential contributing agents in shaping and maintaining the high genetic diversity in the Chachapoyas region.


Assuntos
Biodiversidade , Fluxo Gênico , Genética Populacional , Índios Sul-Americanos/genética , Dinâmica Populacional/história , Arqueologia , Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , Feminino , Marcadores Genéticos , História do Século XV , História do Século XVI , Humanos , Masculino , Fatores Sexuais , América do Sul
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(11): 1226-1232, 2020 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-33179226

RESUMO

OBJECTIVE: To explore the genetic basis of three children with disorders of sex development (DSD) in association with rare Y chromosome rearrangements. METHODS: The three children, who all featured short stature and DSD, were subjected to G banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, sequencing of the whole SRY gene, SNP-array analysis for genomic copy number variations, and fluorescence in situ hybridization (FISH). RESULTS: The combined analysis revealed chromosomal abnormalities in all of the three children, including 46,X,t(X;Y)(p22.3;q11.2) in case 1, mos 45,X,der(7)pus dic(Y:7)(p11.3p22)del(7)(p21.2p21.3) del(7)(p12.3p14.3) [56]/45,X [44] in case 2, and mos 45,X [50]/46,X,idic(Y)(q11.22) [42]/47,X,idem×2 [4]/47,XYY [2] in case 3. CONCLUSION: Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD. Above findings have enabled molecular diagnosis and genetic counseling for the patients.


Assuntos
Cromossomos Humanos Y/genética , Variações do Número de Cópias de DNA , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Criança , Bandeamento Cromossômico , Humanos , Hibridização in Situ Fluorescente , Masculino , Polimorfismo de Nucleotídeo Único
12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(11): 1287-1290, 2020 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-33179242

RESUMO

OBJECTIVE: To explore the pathogenesis and genetic characteristics of a fetus with a der(X)t(X;Y)(p22.3;q11.2) karyotype. METHODS: G-banding karyotyping analysis, BoBs (BACs-on-Beads) assay, and single nucleotide polymorphism array (SNP-array) were used to delineate the structural chromosomal aberration of the fetus. The parents of the fetus were also subjected to karyotyping analysis. RESULTS: The fetus and its mother were both found to have a karyotype of 46,X,add(X)(p22), while the father was normal. BoBs assay indicated that there was a lack of Xp22 but a gain of Yq11 signal. SNP-array confirmed that the fetus and its mother both had a 7.13 Mb deletion at Xp22.33p22.31 (608 021-7 736 547) and gain of a 12.52 Mb fragment at Yq11.221q11.23 (16 271 151-28 788 643). CONCLUSION: The fetus was determined to have a karyotype of 46,X,der(X)t(X;Y)(p22.3;q11.2)mat. The combined use of various methods has facilitated delineation of the fetal chromosomal aberration and prediction of the risk prediction for subsequent pregnancy.


Assuntos
Cromossomos Humanos X , Cromossomos Humanos Y , Diagnóstico Pré-Natal , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos X/genética , Cromossomos Humanos Y/genética , Feminino , Feto , Humanos , Cariotipagem , Masculino , Gravidez , Translocação Genética
13.
Fa Yi Xue Za Zhi ; 36(4): 538-544, 2020 Aug.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-33047540

RESUMO

Abstract: Objective To provide a theoretical basis for building a Y chromosome database in specific regions by analyzing the pedigree specific core haplogroup and region specific genetic structure in Changshu. Methods One thousand seven hundred and two samples from unrelated Han male individuals in Changshu were collected. Then 27 Y-STR were genotyped through YfilerTM Plus PCR Amplification Kit, Y-SNP haplogroup of each sample was speculated using Y-Predictor software and some samples were verified by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Results A total of 1 556 haplotypes were found on the 27 Y-STR genetic markers of the 1 702 samples. The haplotype diversity (HD) value was 0.999 827. DYS385 (0.933) had the highest gene diversity (GD) value while DYS438 (0.409) had the lowest. By the Y-Predictor software, all samples were confirmed to be from 162 sub-haplogroups of C, D, N, O, Q and R. Samples were randomly selected to verify the prediction results by the software and the prediction accuracy of Y-Predictor software was as high as 95.74%. Conclusion This study found that 27 Y-STR genetic markers have relatively high polymorphisms in the Changshu population, and have good forensic individual identification and paternity testing ability.


Assuntos
Cromossomos Humanos Y , Genética Populacional , Cromossomos Humanos Y/genética , Frequência do Gene , Haplótipos , Humanos , Masculino , Repetições de Microssatélites , Polimorfismo Genético
14.
Leg Med (Tokyo) ; 47: 101788, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32950019

RESUMO

Novel Y chromosomal STR (Y-STR) markers have been continuously discovered during the past decades, promoting the widely application of Y-STRs in the area of forensic science. Here, four multicopy Y-STR markers were focused, including DYF383S1, DYF409S1, DYF411S1 and DYF371, which are rarely reported in China and differ in the number of copies on Y chromosome. Characterization of the markers was performed in population of Hunan province, China, based on sequence analysis. Allele nomenclature and allelic ladder were then developed to avoid the disunity of typing standard. To evaluate their forensic performance, gene diversity of the four loci was investigated in 548 unrelated male individuals from Hunan population. The number of haplotype was analyzed by both conservative (C-type) and expanded approach (E-type) for markers containing more than 2 copies. As detected, there were 7, 9, 13 alleles and 15, 22, 23 haplotypes for DYF383S1, DYF409S1 and DYF411S1, respectively. Thirty-two C-types and 56 E-types were found in DYF371, indicating the highest haplotype diversity (HD) among all tested loci (0.871 and 0.888 for C-type and E-type, respectively). Two other Y-STRs (DYF409S1, DYF411S1) also showed high haplotype diversity (>0.8) in the population. Combining the four loci, discrimination capacity reached 0.505 (C-type) or 0.533 (E-type), and the total HD values exceeded 0.991. The results inferred great potential of the multicopy markers to improve the resolution of paternal identification in China population.


Assuntos
Cromossomos Humanos Y/genética , Genética Forense , Genética Populacional , Repetições de Microssatélites/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Feminino , Loci Gênicos/genética , Variação Genética , Haplótipos/genética , Humanos , Masculino , Paternidade
15.
Medicine (Baltimore) ; 99(37): e22124, 2020 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-32925763

RESUMO

RATIONALE: This study aimed to report 1 family case with novel Y chromosome structural variations by an established next-generation sequencing (NGS) method using unique STSs. PATIENT CONCERNS: The case studied was from a family with a father and son (the proband). G-band staining was used for karyotype analysis. Y chromosome microdeletions were detected by sequence-tagged site (STS)-PCR analysis and a new NGS screening strategy. DIAGNOSES: Semen analysis showed that the proband was azoospermic. The patient had an abnormal karyotype (45,X[48%]/46,XY[52%]). His father exhibited a normal karyotype. STS-PCR analysis showed that the proband had a deletion of the AZFb+c region, and his father had no deletion of STS markers examined. The sequencing method revealed that the patient had DNA sequence deletions from nt 20099846 to nt 28365090 (8.3 Mb), including the region from yel4 to the Yq terminal, and his father exhibited a deletion of b1/b3 and duplication of gr/gr. INTERVENTIONS: The proband was advised to undergo genetic counseling, and consider the use of sperm from a sperm bank or adoption to become a father. OUTCOMES: The proband was azoospermic. AZFc partial deletions may produce a potential risk for large AZFb+c deletions or abnormal karyotypes causing spermatogenic failure in men. LESSONS: The NGS method can be considered a clinical diagnostic tool to detect Y chromosome microdeletions. The partial AZFc deletions and/or duplications can be a risk of extensive deletions in offspring.


Assuntos
Infertilidade Masculina/diagnóstico , Infertilidade Masculina/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Adulto , Deleção Cromossômica , Cromossomos Humanos Y/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cariotipagem , Masculino , Sitios de Sequências Rotuladas , Aberrações dos Cromossomos Sexuais
16.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(9): 1036-1038, 2020 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-32820525

RESUMO

OBJECTIVE: To carry out prenatal diagnosis for a fetus with increased nuchal translucency (NT) and another fetus with non-invasive prenatal testing (NIPT) suggested reduced sex chromosomes by cytogenetic and molecular techniques. METHODS: Chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were applied for the diagnoses. Peripheral blood samples were also taken from their parents for chromosomal karyotyping and SNP-array analysis. RESULTS: Both fetuses showed a 46,X,+mar/45,X karyotype. SNP-array has detected a 22.0 Mb duplication at Yp11.31q11.223 and a 3.9 Mb microdeletion at Yq11.223q11.23 in fetus 1, and a 16.9 Mb duplication at Yp11.31q11.221 and a 8.1 Mb deletion at Yq11.222q11.23 in fetus 2. The results were confirmed by FISH. The parents of both fetuses were normal by chromosomal karyotyping and SNP-array. CONCLUSION: Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.


Assuntos
Mosaicismo , Diagnóstico Pré-Natal , Cromossomos Humanos Y , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Polimorfismo de Nucleotídeo Único , Gravidez
17.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(9): 1039-1042, 2020 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-32820526

RESUMO

OBJECTIVE: To carry out genetic testing for a XXY fetus suggested by non-invasive prenatal testing (NIPT). METHODS: G-banding karyotyping, fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA) were performed on amniocytes from the fetus. The genitalia of the fetus was also examined by Doppler ultrasonography. The result was verified with peripheral blood samples from its parents and a brother. RESULTS: The fetus was found to have a 46,XX karyotype. CMA showed presence of sequences from Yp11.2 (2.635 Mb) and Yp11.31p11.2 (3.706 Mb). FISH assay suggested that the SRY fragment on Yp has translocated to Xpter. No karyotypic or pathogenic CNVs was detected in its parents and brother. The fetus was ultimately diagnosed with 46,XX (SRY positive) male syndrome. CONCLUSION: The combination of G-banding karyotyping, FISH, and CMA is of great significance for attaining accurate prenatal diagnosis for this fetus.


Assuntos
Feto , Diagnóstico Pré-Natal , Aberrações dos Cromossomos Sexuais , Bandeamento Cromossômico , Cromossomos Humanos Y , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Gravidez
18.
Leg Med (Tokyo) ; 47: 101760, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32739877

RESUMO

24 Y-STR loci were analyzed in 223 Altay Hui individuals and 209 Altay Kazakh individuals. Haplotype diversity (HD) and discrimination capacity (DC) values were calculated. Population pairwise genetic distances (Rst) were evaluated in AMOVA analysis and compared between two studied populations and other populations. The relationships between populations were visualized through multidimensional scaling (MDS) and neighbor-joining (NJ) tree. The results indicated higher discrimination power in the Altay Kazakh and Hui populations. The Altay Kazakh was the most distantly related to Xishuangbanna Dai, while Altay Kazakh was the most closely related to Gansu Kazakh. The results may provide useful information for paternal lineages and increase our understanding of genetic relationships between two studied populations and other populations.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Cromossomos Humanos Y/genética , Grupos Étnicos/genética , Loci Gênicos/genética , Variação Genética/genética , Genética Populacional , Repetições de Microssatélites/genética , Polimorfismo Genético , China/etnologia , Feminino , Haplótipos , Humanos , Masculino , Herança Paterna/genética
19.
Leg Med (Tokyo) ; 47: 101738, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32818903

RESUMO

Genetic markers on the Y chromosome, including short tandem repeats (Y-STRs) and single nucleotide polymorphisms (Y-SNPs), are used widely in forensic genetics. Both Y-STR-based haplotypes and Y-SNP-based haplogroups provide information on a population's genetic structure, which is useful for the identification of individuals. However, there are few studies on these two types of genetic markers in the various Chinese populations. In this study, 284 Han individuals from four prefecture-level cities in Shandong Province (Binzhou, Dezhou, Heze, and Weihai) were genotyped by 29 Y-STRs (from our previous study) and 213 Y-SNPs (self-designed for the Haplogroup O2 Y-SNP panel). Haplogroup O was the most predominant among the four cities. The highest haplogroup diversity (0.9745) was observed in the Heze population, with a discrimination capacity (DC) value of 0.5625. The haplotype diversity and DC values of the Binzhou and Heze populations were 1.0000. Furthermore, genetic differences were observed between the coastal and inland cities; the results of their statistical analysis are presented herein.


Assuntos
Cromossomos Humanos Y/genética , Grupos Étnicos/genética , Genética Populacional/métodos , Repetições de Microssatélites/genética , Polimorfismo de Nucleotídeo Único , China/etnologia , Feminino , Genótipo , Haplótipos/genética , Humanos , Masculino
20.
Hum Biol ; 91(4): 257-277, 2020 08 06.
Artigo em Inglês | MEDLINE | ID: mdl-32767896

RESUMO

The Fujian Tanka people are officially classified as a southern Han ethnic group, whereas they have customs similar to Daic and Austronesion people. Whether they originated in Han or Daic people, there is no consensus. Three hypotheses have been proposed to explain the origin of this group: (1) the Han Chinese origin, (2) the ancient Daic origin, (3) and the admixture between Daic and Han. This study addressed this issue by analyzing the paternal Y chromosome and maternal mtDNA variation of 62 Fujian Tanka and 25 neighboring Han in Fujian. The southern East Asian predominant haplogroups (e.g., Y-chromosome O1a1a-P203 and O1b1a1a-M95, and mtDNA F2a, M7c1, and F1a1) had relatively high frequencies in Tanka. The interpopulation comparison revealed that the Tanka have a closer affinity with Daic populations than with Han Chinese in paternal lineages but are closely clustered with southern Han populations such as Hakka and Chaoshanese in maternal lineages. Network and haplotype-sharing analyses also support the admixture hypothesis. The Fujian Tanka mainly originate from the ancient indigenous Daic people and have only limited gene flows from Han Chinese populations. Notably, the divergence time inferred by the Tanka-specific haplotypes indicates that the formation of Fujian Tanka was a least 1033.8-1050.6 years before present (the early Northern Song dynasty), indicating that they are an indigenous population, not late Daic migrants from southwestern China.


Assuntos
Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , Genética Populacional/métodos , Grupo com Ancestrais do Continente Asiático/genética , China/etnologia , DNA Mitocondrial/história , Grupos Étnicos/genética , Feminino , Testes Genéticos/métodos , Haplótipos/genética , História Antiga , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética
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