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2.
Hum Genet ; 136(4): 437-450, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-28281087

RESUMO

Y-chromosomal variation in West Asian populations has so far been studied in less detail than in the neighboring Europe. Here, we analyzed 598 Y-chromosomes from two West Asian subregions-Transcaucasia and the Armenian plateau-using 40 Y-SNPs and 17 Y-STRs and combined them with previously published data from the region. The West Asian populations fell into two clusters: upland populations from the Anatolian, Armenian and Iranian plateaus, and lowland populations from the Levant, Mesopotamia and the Arabian Peninsula. This geographic subdivision corresponds with the linguistic difference between Indo-European and Turkic speakers, on the one hand, and Semitic speakers, on the other. This subdivision could be traced back to the Neolithic epoch, when upland populations from the Anatolian and Iranian plateaus carried similar haplogroup spectra but did not overlap with lowland populations from the Levant. We also found that the initial gene pool of the Armenian motherland population has been well preserved in most groups of the Armenian Diaspora. In view of the contribution of West Asians to the autosomal gene pool of the steppe Yamnaya archaeological culture, we sequenced a large portion of the Y-chromosome in haplogroup R1b samples from present-day East European steppe populations. The ancient Yamnaya samples are located on the "eastern" R-GG400 branch of haplogroup R1b-L23, showing that the paternal descendants of the Yamnaya still live in the Pontic steppe and that the ancient Yamnaya population was not an important source of paternal lineages in present-day West Europeans.


Assuntos
Cromossomos Humanos Y , Genética Populacional , Ásia , Etnicidade/genética , Humanos , Masculino , Filogenia
3.
Forensic Sci Int Genet ; 15: 111-4, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25303787

RESUMO

The Y-chromosomal genetic landscape of South America is relatively homogenous. The majority of native Amerindian people are assigned to haplogroup Q and only a small percentage belongs to haplogroup C. With the aim of further differentiating the major Q lineages and thus obtaining new insights into the population history of South America, two individuals, both belonging to the sub-haplogroup Q-M3, were analyzed with next-generation sequencing. Several new candidate SNPs were evaluated and four were confirmed to be new, haplogroup Q-specific, and variable. One of the new SNPs, named MG2, identifies a new sub-haplogroup downstream of Q-M3; the other three (MG11, MG13, MG15) are upstream of Q-M3 but downstream of M242, and describe branches at the same phylogenetic positions as previously known SNPs in the samples tested. These four SNPs were typed in 100 individuals belonging to haplogroup Q.


Assuntos
Cromossomos Humanos Y , Indígenas Sul-Americanos/genética , Polimorfismo de Nucleotídeo Único , Humanos
4.
Heredity (Edinb) ; 103(5): 425-33, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19639002

RESUMO

Bedouin are traditionally nomadic inhabitants of the Persian Gulf who claim descent from two male lineages: Adnani and Qahtani. We have investigated whether or not this tradition is reflected in the current genetic structure of a sample of 153 Bedouin males from six Kuwaiti tribes, including three tribes from each traditional lineage. Volunteers were genotyped using a panel of autosomal and Y-STRs, and Y-SNPs. The samples clustered with their geographical neighbours in both the autosomal and Y-chromosomal analyses, and showed strong evidence of genetic isolation and drift. Although there was no evidence of segregation into the two male lineages, other aspects of genetic structure were in accord with tradition.


Assuntos
Árabes/genética , Genética Populacional , Migrantes , Cromossomos Humanos Y , Genótipo , Humanos , Kuweit , Masculino , Filogenia , Grupos Populacionais/genética , Sequências de Repetição em Tandem/genética
5.
J Med Genet ; 46(1): 21-31, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18782837

RESUMO

BACKGROUND: Previous studies have compared sperm phenotypes between men with partial deletions within the AZFc region of the Y chromosome and non-carriers, with variable results. In this study, a separate question was investigated, the basis of the variation in sperm phenotype within gr/gr deletion carriers, which ranges from normozoospermia to azoospermia. Differences in the genes removed by independent gr/gr deletions, the occurrence of subsequent duplications or the presence of linked modifying variants elsewhere on the chromosome have been suggested as possible causal factors. This study set out to test these possibilities in a large sample of gr/gr deletion carriers with known phenotypes spanning the complete range. RESULTS: In total, 169 men diagnosed with gr/gr deletions from six centres in Europe and one in Australia were studied. The DAZ and CDY1 copies retained, the presence or absence of duplications and the Y-chromosomal haplogroup were characterised. Although the study had good power to detect factors that accounted for >or=5.5% of the variation in sperm concentration, no such factor was found. A negative effect of gr/gr deletions followed by b2/b4 duplication was found within the normospermic group, which remains to be further explored in a larger study population. Finally, significant geographical differences in the frequency of different subtypes of gr/gr deletions were found, which may have relevance for the interpretation of case control studies dealing with admixed populations. CONCLUSIONS: The phenotypic variation of gr/gr carriers in men of European origin is largely independent of the Y-chromosomal background.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Y/genética , Variação Genética , Fenótipo , População Branca/genética , Austrália , Proteína 1 Suprimida em Azoospermia , Europa (Continente) , Dosagem de Genes , Loci Gênicos , Haplótipos , Heterozigoto , Humanos , Masculino , Modelos Genéticos , Proteínas Nucleares/genética , Proteínas de Ligação a RNA/genética , Sêmen/metabolismo , Proteínas de Plasma Seminal/genética
6.
Int J Legal Med ; 120(4): 191-200, 2006 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16998969

RESUMO

The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. A previous recommendation published in 2001 has already addressed Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). Since then, the use of Y-STRs has become very popular, and numerous new loci have been introduced. The current recommendations address important aspects to clarify problems regarding the nomenclature, the definition of loci and alleles, population genetics and reporting methods


Assuntos
Cromossomos Humanos Y , Genética Forense/normas , Genética Populacional , Sequências de Repetição em Tandem , Alelos , Haplótipos , Humanos , Masculino , Mutação , Polimorfismo Genético , Sociedades Científicas , Terminologia como Assunto
7.
Forensic Sci Int ; 157(2-3): 187-97, 2006 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-15913936

RESUMO

The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. A previous recommendation published in 2001 has already addressed Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). Since then, the use of Y-STRs has become very popular, and a numerous new loci have been introduced. The current recommendations address important aspects to clarify problems regarding the nomenclature, the definition of loci and alleles, population genetics and reporting methods.


Assuntos
Cromossomos Humanos Y , Impressões Digitais de DNA/normas , Genética Populacional , Sequências de Repetição em Tandem , Alelos , Haplótipos , Humanos , Masculino , Mutação , Polimorfismo Genético , Sociedades Científicas , Terminologia como Assunto
8.
Am J Hum Genet ; 74(1): 180-7, 2004 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-14639527

RESUMO

Deletion of the entire AZFc locus on the human Y chromosome leads to male infertility. The functional roles of the individual gene families mapped to AZFc are, however, still poorly understood, since the analysis of the region is complicated by its repeated structure. We have therefore used single-nucleotide variants (SNVs) across approximately 3 Mb of the AZFc sequence to identify 17 AZFc haplotypes and have examined them for deletion of individual AZFc gene copies. We found five individuals who lacked SNVs from a large segment of DNA containing the DAZ3/DAZ4 and BPY2.2/BPY2.3 gene doublets in distal AZFc. Southern blot analyses showed that the lack of these SNVs was due to deletion of the underlying DNA segment. Typing 118 binary Y markers showed that all five individuals belonged to Y haplogroup N, and 15 of 15 independently ascertained men in haplogroup N carried a similar deletion. Haplogroup N is known to be common and widespread in Europe and Asia, and there is no indication of reduced fertility in men with this Y chromosome. We therefore conclude that a common variant of the human Y chromosome lacks the DAZ3/DAZ4 and BPY2.2/BPY2.3 doublets in distal AZFc and thus that these genes cannot be required for male fertility; the gene content of the AZFc locus is likely to be genetically redundant. Furthermore, the observed deletions cannot be derived from the GenBank reference sequence by a single recombination event; an origin by homologous recombination from such a sequence organization must be preceded by an inversion event. These data confirm the expectation that the human Y chromosome sequence and gene complement may differ substantially between individuals and more variations are to be expected in different Y chromosomal haplogroups.


Assuntos
Cromossomos Humanos Y/genética , Deleção de Genes , Variação Genética/genética , Proteínas de Ligação a RNA/genética , Proteínas de Plasma Seminal/genética , Mapeamento Cromossômico , Proteína 1 Suprimida em Azoospermia , Loci Gênicos , Marcadores Genéticos , Haplótipos , Humanos , Infertilidade Masculina/genética , Masculino , Dados de Sequência Molecular , Filogenia , Deleção de Sequência
9.
J Med Genet ; 40(11): 815-9, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14627670

RESUMO

BACKGROUND: A Y chromosomal role in prostate cancer has previously been suggested by both cytogenetic findings and patterns of Y chromosomal gene expression. We took advantage of the well established and stable phylogeny of the non-recombining segment of the Y chromosome to investigate the association between Y chromosomal DNA variation and prostate cancer risk. METHODS: We examined the distribution of 116 Y lineages in 930 prostate cancer cases and 1208 controls from four ethnic groups from a cohort study in Hawaii and California. RESULTS: One lineage, found only among the Japanese group in our study, was associated with a statistically significant predisposition to prostate cancer (odds ratio (OR) = 1.63; 95% confidence interval (CI) 1.07 to 2.47), and, in particular, to high severity disease in younger individuals (OR = 3.89; 95% CI 1.34 to 11.31). CONCLUSIONS: This finding suggests that a Y chromosomal factor contributes significantly to the development of prostate cancer in Japanese men.


Assuntos
Cromossomos Humanos Y/fisiologia , Neoplasias da Próstata/etnologia , Neoplasias da Próstata/genética , Idoso , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Marcadores Genéticos/genética , Predisposição Genética para Doença/epidemiologia , Haplótipos/genética , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Neoplasias da Próstata/classificação , Neoplasias da Próstata/epidemiologia , Fatores de Risco
10.
J Endocrinol Invest ; 25(11): 993-5, 2002 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-12553561

RESUMO

Forty Italian individuals with sperm counts in the range 20-130x10(6)/ml were typed with eleven Y-specific binary markers. Five Y haplogroups (1, 2, 3, 9 and 21) were present in the sample. In Italy, in contrast to Denmark, sperm counts were similar in the different haplogroups.


Assuntos
Cromossomos Humanos Y , DNA/análise , Haplótipos , Contagem de Espermatozoides , Adulto , Humanos , Itália , Masculino , Pessoa de Meia-Idade
11.
Forensic Sci Int ; 124(1): 5-10, 2001 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-11741752

RESUMO

During the past few years, the DNA Commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relatively new area - namely, Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods.


Assuntos
DNA/genética , Medicina Legal , Genética Populacional , Agências Internacionais , Polimorfismo Genético , Cromossomo Y/genética , Alelos , Humanos , Masculino , Sequências de Repetição em Tandem , Terminologia como Assunto
12.
Int J Legal Med ; 114(6): 305-9, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11508794

RESUMO

During the past few years the DNA commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relatively new area, namely Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods.


Assuntos
DNA , Medicina Legal , Sequências de Repetição em Tandem , Cromossomo Y , Alelos , Mapeamento Cromossômico , DNA/genética , Bases de Dados como Assunto , Genética Populacional , Guias como Assunto , Humanos , Internet , Mutação , Paternidade , Sociedades Científicas , Terminologia como Assunto , Cromossomo Y/genética
13.
Am J Hum Genet ; 68(6): 1485-96, 2001 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-11353402

RESUMO

The geographic structure of Y-chromosome variability has been analyzed in native populations of South America, through use of the high-frequency Native American haplogroup defined by the DYS199-T allele and six Y-chromosome-linked microsatellites (DYS19, DYS389A, DYS389B, DYS390, DYS391, and DYS393), analyzed in 236 individuals. The following pattern of within- and among-population variability emerges from the analysis of microsatellite data: (1) the Andean populations exhibit significantly higher levels of within-population variability than do the eastern populations of South America; (2) the spatial-autocorrelation analysis suggests a significant geographic structure of Y-chromosome genetic variability in South America, although a typical evolutionary pattern could not be categorically identified; and (3) genetic-distance analyses and the analysis of molecular variance suggest greater homogeneity between Andean populations than between non-Andean ones. On the basis of these results, we propose a model for the evolution of the male lineages of South Amerindians that involves differential patterns of genetic drift and gene flow. In the western part of the continent, which is associated with the Andean area, populations have relatively large effective sizes and gene-flow levels among them, which has created a trend toward homogenization of the gene pool. On the other hand, eastern populations-settled in the Amazonian region, the central Brazilian plateau, and the Chaco region-have exhibited higher rates of genetic drift and lower levels of gene flow, with a resulting trend toward genetic differentiation. This model is consistent with the linguistic and cultural diversity of South Amerindians, the environmental heterogeneity of the continent, and the available paleoecological data.


Assuntos
Diversidade Cultural , Meio Ambiente , Indígenas Sul-Americanos/genética , Mutação/genética , Cromossomo Y/genética , Evolução Molecular , Frequência do Gene/genética , Pool Gênico , Haplótipos/genética , Humanos , Linguística , Masculino , Repetições de Microssatélites/genética , Modelos Genéticos , Filogenia , América do Sul
14.
Mol Biol Evol ; 18(6): 1077-87, 2001 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-11371596

RESUMO

We analyzed 10 Y-chromosomal binary markers in 363 males from 8 populations in Northern Europe and 5 Y microsatellites in 346 of these individuals. These populations can be grouped according to cultural, linguistic, or geographical criteria, and the groupings are different in each case. We can therefore ask which criterion best corresponds to the distribution of genetic variation. In an AMOVA analysis using the binary markers, 13% of the Y variation was found between populations, indicating a high level of differentiation within this small area. No significant difference was seen between the traditionally nomadic Saami and the neighboring, historically farming, populations. When the populations were divided into Uralic speakers and Indo-European speakers, 8% of the variation was found between groups, but when they were divided according to geographical location, 14% of the variation was between groups. Geographical factors have thus been the most important in limiting gene flow between these populations, but linguistic differences have also been important in the east.


Assuntos
Variação Genética , Cromossomo Y/genética , Análise de Variância , Cultura , Europa (Continente) , Marcadores Genéticos/genética , Genética Populacional , Geografia , Haplótipos , Humanos , Linguística , Masculino , Repetições de Microssatélites/genética , Polimorfismo Genético
15.
Forensic Sci Int ; 118(2-3): 141-6, 2001 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-11311827

RESUMO

16 Y-specific STR loci have been analysed in 711 males from 12 populations in Pakistan. Individual loci showed between 4 and 10 alleles, and diversities ranged from 0.07 to 0.77. A total of 527 different haplotypes were found and the haplotype diversity ranged from 0.92 to 0.99 for the different populations. 446 haplotypes occurred in single individuals, and only 19 haplotypes were present in more than three males, but two striking examples of haplotype sharing were found, one involving 13 individuals, and the other 17. The 13 individuals were all Parsis, and 16 of the 17 were Brahuis, providing evidence for population substructuring.


Assuntos
Genética Populacional , Haplótipos , Sequências de Repetição em Tandem/genética , Cromossomo Y/genética , Humanos , Masculino , Paquistão
16.
Am J Hum Genet ; 68(2): 537-42, 2001 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11133362

RESUMO

The origins and dispersal of farming and pastoral nomadism in southwestern Asia are complex, and there is controversy about whether they were associated with cultural transmission or demic diffusion. In addition, the spread of these technological innovations has been associated with the dispersal of Dravidian and Indo-Iranian languages in southwestern Asia. Here we present genetic evidence for the occurrence of two major population movements, supporting a model of demic diffusion of early farmers from southwestern Iran-and of pastoral nomads from western and central Asia-into India, associated with Dravidian and Indo-European-language dispersals, respectively.


Assuntos
Genética Populacional , Cromossomo Y/genética , Ásia Ocidental , Frequência do Gene , Variação Genética , Geografia , Haplótipos , Humanos , Idioma , Masculino , Filogenia , Fatores de Tempo
17.
J Endocrinol Invest ; 23(10): 671-6, 2000 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11097432

RESUMO

We have determined Y-chromosomal DNA haplotypes in 73 infertile European males carrying Y microdeletions and compared them with the haplotypes of 299 infertile males lacking microdeletions. Chromosomes were typed with a set of 11 binary Y markers, which identified 8 haplogroups in the sample. Haplogroup frequencies were compared between 3 microdeletion classes and the non-deleted infertile males. Deletions arise on many different haplotypic backgrounds. No statistically significant differences in frequency were seen, although the small number of AZFa deletions lay predominantly on one branch of the Y haplotype tree.


Assuntos
DNA/genética , Deleção de Genes , Haplótipos , Infertilidade Masculina/genética , Cromossomo Y/genética , Europa (Continente) , Frequência do Gene , Humanos , Masculino , Filogenia
18.
Chromosoma ; 109(5): 318-27, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-11007490

RESUMO

We describe a novel rearranged human Y chromosome consisting of an inverted duplication of the long arm heterochromatin and a small amount of euchromatin: rea(Y)(qter-q11.2::q11.2-qter). The normal centromere has been deleted and a neocentromere containing CENP-A, -C, -E and Mad2 but not CENP-B has formed close to the breakpoint. A 2.7 Mb yeast artificial chromosome contig spanning the breakpoint was constructed and the breakpoint was localised to a region of <120 kb close to the DAZ gene cluster. Combined immunofluorescence and fluorescence in situ hybridisation showed that the centromeric protein-binding domain of the neocentromere was located near the breakpoint and within the DAZ cluster.


Assuntos
Centrômero , Aberrações Cromossômicas , Cromossomo Y , Adulto , Bandeamento Cromossômico , Quebra Cromossômica , Transferência Embrionária , Feminino , Fertilização in vitro , Morte Fetal/genética , Deleção de Genes , Humanos , Hibridização in Situ Fluorescente , Infertilidade Masculina/genética , Masculino , Placenta/citologia , Gravidez , Proibitinas , Recombinação Genética , Mapeamento por Restrição
20.
Trends Genet ; 16(8): 356-62, 2000 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-10904265

RESUMO

Recent discoveries of many new genes have made it clear that there is more to the human Y chromosome than a heap of evolutionary debris, hooked up to a sequence that happens to endow its bearer with testes. Coupled with the recent development of new polymorphic markers on the Y, making it the best-characterized haplotypic system in the genome, this gives us new opportunities to assess its role in disease and selection, through association studies with phenotypes such as infertility and cancers. However, the peculiar genetics of this bizarre chromosome means that we should interpret such studies particularly cautiously.


Assuntos
Haplótipos/genética , Cromossomo Y , Evolução Biológica , Variação Genética , Humanos , Masculino , Fenótipo , Seleção Genética
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