Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients
PLoS ONE Volume 6 Issue 9
Page e25059-
published_at 2011
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Title ( eng ) |
Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients
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Creator |
Hagiwara Koichi
Shiihara Jun
Tanaka Tomoaki
Miyazawa Hitoshi
Suzuki Tomoko
Kohda Masakazu
Okazaki Yasushi
Seyama Kuniaki
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Source Title |
PLoS ONE
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Volume | 6 |
Issue | 9 |
Start Page | e25059 |
Abstract |
Genes involved in disease that are not common are often difficult to identify; a method that pinpoints them from a small number of unrelated patients will be of great help. In order to establish such a method that detects recessive genes identical-by-descent, we modified homozygosity mapping (HM) so that it is constructed on the basis of homozygosity haplotype (HM on HH) analysis. An analysis using 6 unrelated patients with Siiyama-type alpha 1-antitrypsin deficiency, a disease caused by a founder gene, the correct gene locus was pinpointed from data of any 2 patients (length: 1.2-21.8 centimorgans, median: 1.6 centimorgans). For a test population in which these 6 patients and 54 healthy subjects were scrambled, the approach accurately identified these 6 patients and pinpointed the locus to a 1.4-centimorgan fragment. Analyses using synthetic data revealed that the analysis works well for IBD fragment derived from a most recent common ancestor (MRCA) who existed less than 60 generations ago. The analysis is unsuitable for the genes with a frequency in general population more than 0.1. Thus, HM on HH analysis is a powerful technique, applicable to a small number of patients not known to be related, and will accelerate the identification of disease-causing genes for recessive conditions.
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NDC |
Medical sciences [ 490 ]
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Language |
eng
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Resource Type | journal article |
Publisher |
Public Library of Science
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Date of Issued | 2011 |
Rights |
(c) 2011 Hagiwara et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Publish Type | Version of Record |
Access Rights | open access |
Source Identifier |
[ISSN] 1932-6203
[DOI] 10.1371/journal.pone.0025059
[DOI] http://dx.doi.org/10.1371/journal.pone.0025059
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