Highlights
- •Commonly used Y-STRs have strong limitations in separating related men.
- •RM Y-STRs allow separating male relatives, mostly shown thus far for father-sons.
- •We provide a 7-fold RM Y-STR data increase for close relatives beyond father-sons.
- •We analysed 13 RM Y-STRs in 572 men of 99 2–4 generation pedigrees from Pakistan.
- •We separated 45% of 1568 relative pairs with RM Y-STRs, 15% of 1484 with Y-filer.
Abstract
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 × 10−3 (7.0 × 10−4–4.3 × 10−3) to 6.9 × 10−2 (6.1 × 10−2–7.9 × 10−2) based on 2741–3143 meioses, with an average rate across all 13 RM Y-STR markers
of 1.8 × 10−2 (1.7 × 10−2–1.9 × 10−2) 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.
Keywords
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Article info
Publication history
Published online: July 08, 2016
Accepted:
July 7,
2016
Received in revised form:
June 7,
2016
Received:
January 19,
2016
Identification
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© 2016 Elsevier Ireland Ltd. All rights reserved.
