Investigations of the Y chromosome, male founder structure and YSTR mutation rates in the Old Order Amish.
OBJECTIVE
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.
Pollin
Toni I
TI
Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA. tpollin@medicine.umaryland.edu
McBride
Daniel J
DJ
Agarwala
Richa
R
Schäffer
Alejandro A
AA
Shuldiner
Alan R
AR
Mitchell
Braxton D
BD
O'Connell
Jeffrey R
JR
D041322:Chromosomes, Human, Y; D005006:Ethnicity / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid; D014481:United States