Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications
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- 作者：Kaye N. Ballantyne ; Miriam Goedbloed ; Rixun Fang ; Onno Schaap ; Oscar Lao ; Andreas Wollstein ; Ying Choi ; Kate van Duijn ; Mark Vermeulen ; Silke Brauer ; Ronny Decorte ; Micaela Poetsch ; Nicole von Wurmb-S
- 刊名：The American Journal of Human Genetics
- 出版年：2010
- 出版时间：10 September 2010
- 年：2010
- 卷：87
- 期：3
- 页码：341-353
- 全文大小：584 K
文摘
Nonrecombining Y-chromosomal microsatellites (Y-STRs) are widely used to infer population histories, discover genealogical relationships, and identify males for criminal justice purposes. Although a key requirement for their application is reliable mutability knowledge, empirical data are only available for a small number of Y-STRs thus far. To rectify this, we analyzed a large number of 186 Y-STR markers in nearly 2000 DNA-confirmed father-son pairs, covering an overall number of 352,999 meiotic transfers. Following confirmation by DNA sequence analysis, the retrieved mutation data were modeled via a Bayesian approach, resulting in mutation rates from 3.78 × 10−4 (95 % credible interval [CI], 1.38 × 10−5 − 2.02 × 10−3) to 7.44 × 10−2 (95 % CI, 6.51 × 10−2 − 9.09 × 10−2) per marker per generation. With the 924 mutations at 120 Y-STR markers, a nonsignificant excess of repeat losses versus gains (1.16:1), as well as a strong and significant excess of single-repeat versus multirepeat changes (25.23:1), was observed. Although the total repeat number influenced Y-STR locus mutability most strongly, repeat complexity, the length in base pairs of the repeated motif, and the father's age also contributed to Y-STR mutability. To exemplify how to practically utilize this knowledge, we analyzed the 13 most mutable Y-STRs in an independent sample set and empirically proved their suitability for distinguishing close and distantly related males. This finding is expected to revolutionize Y-chromosomal applications in forensic biology, from previous male lineage differentiation toward future male individual identification.