Molecular characterisation of four human Y‐specific microsatellites (DYS434, DYS437, DYS438, DYS439) for population and forensic studies

GUSMAO, L.; ALVES, C.; Amorim, António

doi:10.1046/j.1469-1809.2001.6530285.x

Cited by 7 publications

(8 citation statements)

References 12 publications

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“…The additional marker causes a variation in haplotype diversity as follows: DYS437 (H = 0.9982 AE 0.0010, 143 haplotypes), DYS438 (H = 0.9986 AE 0.0009, 146 haplotypes) and DYS439 (H = 0.9994 AE 0.0008, 153 haplotypes). The level of discrimination obtained by additional typing of DYS439 confirms its usefulness for forensic purposes [12,24].…”

supporting

confidence: 59%

Population data on 11 Y-chromosome STRs from Guiné-Bissau

Rosa

Ornelas

Brehm

et al. 2006

Forensic Science International

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supporting

confidence: 59%

Population data on 11 Y-chromosome STRs from Guiné-Bissau

Rosa

Ornelas

Brehm

et al. 2006

Forensic Science International

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“…Gusmão et al 2002) whilst a unimodal distribution has been observed in Asia and Africa, and the locus is almost monomorphic in sub-Saharan populations . A similar pattern emerges for the pentanucleotide Y-STR DYS438 which has a bimodal allele frequency distribution in northern Portugal, but not in Mozambique (SE Africa) or in Asians from Macao (Gusmão et al 2001;Uchihi et al 2003).…”

Section: Introductionsupporting

confidence: 64%

Bimodal allele frequency distribution at Y-STR loci DYS392 and DYS438: no evidence for a deviation from the stepwise mutation model

Gusmão

Krawczak

Sánchez-Diz

et al. 2003

International Journal of Legal Medicine

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A deviation from the stepwise mutation model (SMM) has been suggested for the trinucleotide Y-STR locus DYS392, based upon its bimodal allele frequency distribution in various populations. The same type of distribution is also observed for the pentanucleotide Y-STR DYS438. In order to verify whether a departure from an SMM is likely for these two loci, we studied a large number of Portuguese male DNA samples typed for the two loci and in addition, for the Y-STR loci DYS19, DYS389I/II, DYS390, DYS391 and DYS393. The compatibility of the observed allele frequency spectrum with an SMM was assessed by an apportionment of the molecular variance among, and consideration of the molecular distances between, haplotype groups defined according to their allelic state at each of the two markers of interest. For haplotypes carrying either modal alleles 11 or 13 of DYS392, 18.6% of the molecular variance of the remaining Y-STR background could be attributed to variation between the two groups. When all pairwise Phi(st) values between haplotype groups were compared, group 12 was found to be closer to 11 than to 13, and group 14 was much closer to 13 than to 12 and 11. It may therefore be concluded that DYS392 allele 13 represents an evolutionary lineage with little or no relationship to 11 and 12. Furthermore, allele 14 is a one-step neighbour of 13 and is therefore likely to represent an offshoot from group 13. For haplotypes carrying either modal allele 10 or modal allele 12 of DYS438, 27.7% of the molecular variance of the Y-STR background was found to be due to variation between the two groups. Comparison of the other pairwise Phi(st) values indicated that group 10 was closer to 9 and 11 than to 12, and that group 12 was closer to 11 and 13 than to 10. The lineages defined by the two modal alleles of DYS438 therefore also seem to be phylogenetically distant. When the two loci were analysed in combination, using the standardised linkage disequilibrium measure (D'), a strong association was noted between alleles DYS392*11 and DYS438*10 (D'=0.70) and between DYS392*13 and DYS438*12 (D'=0.72). Taken together, these results show that the bimodal allele frequency distributions of DYS392 and DYS438 are explicable in terms of (probably the same) historical and demographic causes, rather than a mutational mechanism other than SMM. The loci do therefore not appear to warrant any special attention when applied in population genetic or forensic studies.

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“…The consensus repeat structure of the DYS437 locus has been reported to be (TCTA) m (TCTG) 2 (TCTA) 4 , and differences in the number of “m” reflect differences in alleles (Gusmao et al . 2001, 2002).…”

Section: Resultsmentioning

confidence: 99%

Y‐chromosomal Binary Haplogroups in the Japanese Population and their Relationship to 16 Y‐STR Polymorphisms

Nonaka

Minaguchi

Takezaki

2007

Annals of Human Genetics

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SummaryWe investigated Y chromosomal binary and STR polymorphisms in 263 unrelated male individuals from the Japanese population and further examined the relationships between the two separate types of data. Using 47 biallelic markers we distinguished 20 haplogroups, four of which (D2b1/-022457, O3/-002611 * , O3/-LINE1 del, and O3/-021354 * ) were newly defined in this study. Most haplogroups in the Japanese population are found in one of the three major clades, C, D, or O. Among these, two major lineages, D2b and O2b, account for 66% of Japanese Y chromosomes. Haplotype diversity of binary markers was calculated at 86.3%. The addition of 16 Y-STR markers increased the number of haplotypes to 225, yielding a haplotype diversity of 99.40%. A comparison of binary haplogroups and Y-STR type revealed a close association between certain binary haplogroups and Y-STR allelic or conformational differences, such as those at the DXYS156Y, DYS390m, DYS392, DYS437, DYS438 and DYS388 loci. Based on our data on the relationships between binary and STR polymorphisms, we estimated the binary haplogroups of individuals from STR haplotypes and frequencies of binary haplogroups in other Japanese, Korean and Taiwanese Han populations. The present data will enable researchers to connect data from binary haplogrouping in anthropological studies and Y-STR typing in forensic studies in East Asian populations, especially those in and around Japan.

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Molecular characterisation of four human Y‐specific microsatellites (DYS434, DYS437, DYS438, DYS439) for population and forensic studies

Cited by 7 publications

References 12 publications

Population data on 11 Y-chromosome STRs from Guiné-Bissau

Population data on 11 Y-chromosome STRs from Guiné-Bissau

Bimodal allele frequency distribution at Y-STR loci DYS392 and DYS438: no evidence for a deviation from the stepwise mutation model

Y‐chromosomal Binary Haplogroups in the Japanese Population and their Relationship to 16 Y‐STR Polymorphisms

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