Analysis of mutations in father–son pairs with 17 Y-STR loci

Abstract

We have examined 389 father/son sample pairs from U.S. Caucasians, African Americans, Hispanics and Asians using the 17 Y-STR loci in the Yfiler TM kit and observed a total of 24 differences between father and son. Thirteen mutations resulted in the gain of a repeat in the son and 11 resulted in a loss of a repeat. All samples resulted in single repeat mutations except one sample which contained a two repeat loss at Y-GATA-H4. Furthermore, two different sample pairs were found to have two mutations. An African American sample pair had a mutation at DYS458 and a second at DYS635 and an Asian sample pair had mutations at DYS439 and Y-GATA-H4. #

Genetic diversity of 17 Y-chromosomal short tandem repeat loci in northeast Germany

“…Two mutations were observed at loci DYS456, DYS393, DYS391 and DYS385. The average mutation rate was 3.66 Â 10 À3 similar to results of other working groups obtained for Y-STRs [9][10][11][12]. All mutations were characterized by sequencing.…”

Y-STR variation in the Basque diaspora in the Western USA: evolutionary and forensic perspectives

“…With this aim, we present here the first study of 17 Y-STR loci in autochthonous European Basques and the Basque diaspora in the Western USA. [15]; CA-US Caucasian Americans [13]; HI-US Hispanic Americans [13]; AS-US Asian Americans [13]; AF-US African Americans [13]; POR Portugal [16]; ITA Italy [17]; AUS Austria [18]; GER Germany [19]; POL Poland [19]; ROM Romania [20]; GRE Greece [21]; SER Serbia [22]; CRO Croatia [23] Our results demonstrate a very high-level of conservation of the Y chromosome haplotypes characteristic of the European autochthonous Basque population among individuals of the Basque diaspora in the Western USA. No signs of founder haplotypes have been found, probably because the number of European Basque male individuals who have settled in the Western USA has been large enough for a similar Y-haplotype frequency distribution to be reached between the source and the emigrant populations.…”

“…We determined the frequency of Basque surnames in the Western USA Basque diaspora population sample and found that 86% had a paternal Basque surname, while 14% had a non-Basque paternal ancestry. To check for the origin of haplotypes incorporated into the gene pool of the Basque diaspora in the Western USA, we compared the Y-STR haplotypes of the Basque diaspora with those in the Basque source population and with subpopulations from the USA (Caucasians, Hispanics, Africans and Asians) [13].…”

“…Finally, genetic distance calculations based on the Fst statistic were performed to assess the genetic relationships between the Basque founder population, its Western USA diaspora and other populations from North America and Europe [13,[15][16][17][18][19][20][21][22][23]. Only the populations with the same 17 Y-STR loci data were included in these calculations.…”

Forensic DNA Analysis

“…Slight deviations from independence will occasionally be (Decker et al 2008;Goedbloed et al 2009). For human identity testing, Ballantyne and co-authors (2012) purposefully selected rapidly mutating Y STRs to increase the differentiation for male relatives.…”