Analysis of mutations in father-son pairs within selected Y-STR loci

Wysocka, J.; Stasiewicz, A.; Rebała, K.; Kapińska, E.; Cybulska, L.; Szczerkowska, Z.

Archiwum Medycyny Sadowej i Kryminologii 62(3): 147-151

2012


ISSN/ISBN: 0324-8267
PMID: 23650838
Document Number: 663783
The objective of the study was to examine the mutation rates of Y-chromosomal STR from father-son pairs. The paternity in these cases was confirmed previously with the use of autosomal STR system performing standard analyses of genetic profiles of the mother, child and putative father (PI > = 100000). We examined 200 father-son sample pairs from Northern Poland using the Y-STR 18-plex. We identified eleven mutations. Five mutations resulted in the gain of a repeat in the sons' chromosome and six resulted in a loss of a repeat. All the samples resulted in single repeat mutations from one sample, which contained a two repeat loss at DYS385. The overall average mutation rate estimate was 0.0031.There was no significant difference in the mutation rate between Y-STR loci of the 200 tested father-son pairs and the YHRD base.

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