Investigations of the Y chromosome, male founder structure and YSTR mutation rates in the Old Order Amish
Investigations of the Y chromosome, male founder structure and YSTR mutation rates in the Old Order Amish
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DOI：
10.1159/000108941
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发表时间：
2008-01-01
期刊：
影响因子：
1.8
通讯作者：
O'Connell, Jeffrey R.
中科院分区：
文献类型：
--
作者：
Pollin, Toni I.;McBride, Daniel J.;O'Connell, Jeffrey R.
目的：利用Y染色体短串联重复序列（YSTR）基因型，(1)评估兰开斯特县旧序阿米什人（OOA）家谱记录的准确性和完整性，(2)估计YSTR突变率。方法：对739名参与复杂性状遗传研究的Old Order Amish男性的9个YSTR标记进行基因分型，并与使用Ana-baptist谱系数据库和查询软件ed- hunter构建的28个全男性谱系谱系中的一个相关联。为每个家系构建一个假定的YSTR创始单倍型，并使用观察和推断的父子传递来估计YSTR突变率。结果：我们在28个男性谱系中推断出27种不同的创始Y染色体单倍型，这些谱系包括27个姓氏，占兰开斯特OOA家庭的98%。几乎所有始创单倍型的偏离都与突变事件一致，而不是错误。估计的标记特异性突变率从0到1.09%不等（仅观察到283个减数分裂的平均突变率为0.33%，观察和推断的减数分裂加在一起的平均突变率为0.28%）。结论：这些数据证实了再洗礼派谱系数据库中男性谱系部分的准确性和完整性，并提供了几种常用Y染色体STR标记的突变率估计。版权所有(C) 2007 S. Karger AG，巴塞尔
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 Ana-baptist 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. Copyright (C) 2007 S. Karger AG, Basel.