Evidence map›Paper›PMID 17898540›Full record

ArticleHuman heredity2008

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

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

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Article in Human heredity, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

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11citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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11 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Toni I PollinDepartment of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA. tpollin@medicine.umaryland.edu
Daniel J McBride
Richa Agarwala
Alejandro A Schäffer
Alan R Shuldiner
Braxton D Mitchell
Jeffrey R O'Connell

Funding

Joint Determinants of Bone Density and CVD CalcificationR01HL069313 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI MITCHELL, BRAXTON D · 2001 to 2004
$1.4M
Case Studies In GeneticsZ01LM000097 · NLM · NATIONAL LIBRARY OF MEDICINE · PI SCHAFFER, ALEJANDRO A · 2002 to 2008
$452k
Intramural NIH HHSNHLBI NIH HHS R01 HL069313NHLBI NIH HHS R01-HL69313NIAMS NIH HHS R01-AR4638NIDDK NIH HHS R01-DK64621
6 · The paper itself

Abstract

objectivesUsing 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.

methodsNine 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.

resultsWe 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).

conclusionsThese 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.

Indexed as

Chromosomes, Human, YMutationEthnicityGenotypeHumansMalePedigreeRepetitive Sequences, Nucleic AcidUnited States

Identifiers

PMID17898540
PMCPMC2857628

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