Literature DB >> 17898540

Investigations of the Y chromosome, male founder structure and YSTR mutation rates in the Old Order Amish.

Toni I Pollin1, Daniel J McBride, Richa Agarwala, Alejandro A Schäffer, Alan R Shuldiner, Braxton D Mitchell, Jeffrey R O'Connell.   

Abstract

OBJECTIVES: Using Y chromosome short tandem repeat (YSTR) genotypes, (1) evaluate the accuracy and completeness of the Lancaster County Old Order Amish (OOA) genealogical records and (2) estimate YSTR mutation rates.
METHODS: Nine YSTR markers were genotyped in 739 Old Order Amish males who participated in several ongoing genetic studies of complex traits and could be connected into one of 28 all-male lineage pedigrees constructed using the Anabaptist Genealogy Database and the query software Ped-Hunter. A putative founder YSTR haplotype was constructed for each pedigree, and observed and inferred father-son transmissions were used to estimate YSTR mutation rates.
RESULTS: We inferred 27 distinct founder Y chromosome haplotypes in the 28 male lineages, which encompassed 27 surnames accounting for 98% of Lancaster OOA households. Nearly all deviations from founder haplotypes were consistent with mutation events rather than errors. The estimated marker-specific mutation rates ranged from 0 to 1.09% (average 0.33% using up to 283 observed meioses only and 0.28% using up to 1,232 observed and inferred meioses combined).
CONCLUSIONS: These data confirm the accuracy and completeness of the male lineage portion of the Anabaptist Genealogy Database and contribute mutation rate estimates for several commonly used Y chromosome STR markers. (c) 2007 S. Karger AG, Basel.

Mesh:

Year:  2007        PMID: 17898540      PMCID: PMC2857628          DOI: 10.1159/000108941

Source DB:  PubMed          Journal:  Hum Hered        ISSN: 0001-5652            Impact factor:   0.444


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