Title

Genetic Data And De Novo Mutation Rates In Father-Son Pairs Of 23 Y-Str Loci In Southern Brazil Population

Keywords

DNA; Genetic marker; Mutation rate; Paternity; Y-STR

Abstract

We evaluated haplotype and allele frequencies, as well as statistical forensic parameters, for 23 Y-chromosome short tandem repeats (STRs) loci of the PowerPlex®Y23 system (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y-GATA-H4, DYS481, DYS533, DYS549, DYS570, DYS576, DYS643) in a sample of 150 apparently healthy males, resident in South Brazil. A total of 150 different haplotypes were identified. The highest gene diversity (GD) was observed for the single locus marker DYS570 (GD = 0.7888) and for a two-locus system DYS385 (GD = 0.9009). We also examined 150 father-son pairs by the same system, and a total of 13 mutations were identified in the 3450 father-son allelic transfers, with an overall mutation rate across the 23 loci of 3.768 × 10−3 (95 % CI: 3.542 × 10−3 to 3.944 × 10−3). In all cases there was only one locus mutated with gain/loss of repeats in the son (5 one-repeat gains, and 7 one-repeat and 1 two-repeat losses); we observed no instances of mutations involving a non-integral number of repeats.

Publication Date

11-1-2015

Publication Title

International Journal of Legal Medicine

Volume

129

Issue

6

Number of Pages

1221-1223

Document Type

Editorial Material

Personal Identifier

scopus

DOI Link

https://doi.org/10.1007/s00414-014-1101-2

Socpus ID

84943820285 (Scopus)

Source API URL

https://api.elsevier.com/content/abstract/scopus_id/84943820285

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