Investigations of the Y Chromosome, Male Founder Structure and YSTR Mutation Rates in the Old Order Amish

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 particip...

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Bibliographic Details
Published in:Human heredity 2008-01, Vol.65 (2), p.91-104
Main Authors: Pollin, Toni I., McBride, Daniel J., Agarwala, Richa, Schäffer, Alejandro A., Shuldiner, Alan R., Mitchell, Braxton D., O’Connell, Jeffrey R.
Format: Article
Language:English
Subjects:
Amish culture
Chromosomes
Chromosomes, Human, Y
Ethnic Groups - genetics
Genomics
Genotype
Heredity
Humans
Male
Men
Mutation
Older people
Original Paper
Pedigree
Population genetics
Repetitive Sequences, Nucleic Acid
United States
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Summary: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 PedHunter. 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.
ISSN:0001-5652
1423-0062
DOI:10.1159/000108941