کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6553423 | 160882 | 2016 | 23 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Improving empirical evidence on differentiating closely related men with RM Y-STRs: A comprehensive pedigree study from Pakistan
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
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چکیده انگلیسی
Y-chromosomal short tandem repeat (Y-STR) markers are commonly used in forensic genetics. Male-specific haplotypes provided by commercial Y-STR kits allow discriminating between many - but not all - unrelated men, while they mostly fail to separate related ones. Aiming to improve male relative and paternal lineage differentiation, a set of 13 rapidly-mutating (RM) Y-STRs was previously identified and introduced to forensic Y-chromosome analysis. Recently, their value was highlighted by separating 99% of over 12,200 unrelated men from 111 global populations, as well as 29% of over 2500 male relative pairs, the vast majority were father-sons. Here, we provide improved empirical evidence on differentiating closely related men with RM Y-STRs, most notably beyond father-sons, where previous data were limited. After careful quality control including genetic relationship testing, we used 572 Pakistani men belonging to 99 2-4 generation pedigrees covering 1568 pairs of men related by 1-6 meioses. Of those, 45% were differentiated by one or more of the 13 RM Y-STR markers. In contrast, only 14.7% of a subset of 1484 pairs from 94 pedigrees were separated by the commercial AmpFlSTR Y-filer kit. Combining previously published and new data, an overall differentiation rate of 35.3% was revealed for the RM Y-STR set based on 4096 pairs of men related by 1-20 meioses, compared to 9.6% with Y-filer based on 3645 pairs. Using father-son pair data from the present and previous studies, we provide updated RM Y-STR mutation rates. Locus-specific mutation rates ranged from 2.0 Ã 10â3 (7.0 Ã 10â4-4.3 Ã 10â3) to 6.9 Ã 10â2 (6.1 Ã 10â2-7.9 Ã 10â2) based on 2741-3143 meioses, with an average rate across all 13 RM Y-STR markers of 1.8 Ã 10â2 (1.7 Ã 10â2-1.9 Ã 10â2) based on 800 mutations from 44,922 meioses. The high haplotype diversity (h = 0.9996) we observed among the unrelated men (N = 105) underlines the value of this RM Y-STR set to differentiate paternal lineages even from endogamous populations such as from Pakistan.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Forensic Science International: Genetics - Volume 25, November 2016, Pages 45-51
Journal: Forensic Science International: Genetics - Volume 25, November 2016, Pages 45-51
نویسندگان
Atif Adnan, Arwin Ralf, Allah Rakha, Nefeli Kousouri, Manfred Kayser,