Abstract:
BACKGROUND:Because they are a closed founder population, the Old Order Amish (OOA) of Lancaster County have been the subject of many medical genetics studies. We constructed four versions of Anabaptist Genealogy Database (AGDB) using three sources of genealogies and multiple updates. In addition, we developed PedHunter, a suite of query software that can solve pedigree-related problems automatically and systematically. METHODS:We report on how we have used new features in PedHunter to quantify the number and expected genetic contribution of founders to the OOA. The queries and utility of PedHunter programs are illustrated by examples using AGDB in this paper. For example, we calculated the number of founders expected to be contributing genetic material to the present-day living OOA and estimated the mean relative founder representation for each founder. New features in PedHunter also include pedigree trimming and pedigree renumbering, which should prove useful for studying large pedigrees. RESULTS:With PedHunter version 2.0 querying AGDB version 4.0, we identified 34,160 presumed living OOA individuals and connected them into a 14-generation pedigree descending from 554 founders (332 females and 222 males) after trimming. From the analysis of cumulative mean relative founder representation, 128 founders (78 females and 50 males) accounted for over 95% of the mean relative founder contribution among living OOA descendants. DISCUSSION/CONCLUSIONS:The OOA are a closed founder population in which a modest number of founders account for the genetic variation present in the current OOA population. Improvements to the PedHunter software will be useful in future studies of both the OOA and other populations with large and computerized genealogies.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Lee WJ,Pollin TI,O'Connell JR,Agarwala R,Schäffer AAdoi
10.1186/1471-2350-11-68subject
Has Abstractpub_date
2010-05-02 00:00:00pages
68issn
1471-2350pii
1471-2350-11-68journal_volume
11pub_type
杂志文章abstract:BACKGROUND:The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation. METHODS:The study population includes: 1123 healthy individuals, 100 homozyg...
journal_title:BMC medical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:BMC medical genetics
pub_type: 杂志文章
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journal_title:BMC medical genetics
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journal_title:BMC medical genetics
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2012-05-30 00:00:00
abstract:BACKGROUND:Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include the presence of folate receptor (FR) autoantibodies, defects of FR encoding gene FOLR1, mitochondria...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01162-3
更新日期:2020-11-26 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2020-11-10 00:00:00
abstract:BACKGROUND:Tumor necrosis factor superfamily member 15 (TNFSF15) is closely related to tumorigenesis and development. This study aimed to investigate the correlations between TNFSF15 polymorphisms and genetic susceptibility to lung cancer. METHODS:This case-control study included 209 small cell lung cancer patients (S...
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2012-05-18 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2007-10-04 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2009-05-09 00:00:00
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doi:10.1186/s12881-020-01102-1
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2012-04-27 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2017-02-23 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2006-10-04 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2018-10-19 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2001-01-01 00:00:00
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journal_title:BMC medical genetics
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