| Item type |
デフォルトアイテムタイプ_（フル）(1) |
| 公開日 |
2023-03-18 |
| タイトル |
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タイトル |
Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients |
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言語 |
en |
| 作成者 |
Hagiwara, Koichi
Morino, Hiroyuki
Shiihara, Jun
Tanaka, Tomoaki
Miyazawa, Hitoshi
Suzuki, Tomoko
Kohda, Masakazu
Okazaki, Yasushi
Seyama, Kuniaki
Kawakami, Hideshi
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| アクセス権 |
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アクセス権 |
open access |
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アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 権利情報 |
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|
権利情報 |
(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. |
| 主題 |
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主題Scheme |
NDC |
|
主題 |
490 |
| 内容記述 |
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内容記述 |
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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言語 |
en |
| 出版者 |
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出版者 |
Public Library of Science |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版タイプ |
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|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 関連情報 |
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|
識別子タイプ |
DOI |
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関連識別子 |
10.1371/journal.pone.0025059 |
| 関連情報 |
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|
識別子タイプ |
DOI |
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|
関連識別子 |
http://dx.doi.org/10.1371/journal.pone.0025059 |
| 収録物識別子 |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
1932-6203 |
| 開始ページ |
|
|
開始ページ |
e25059 |
| 書誌情報 |
PLoS ONE
PLoS ONE
巻 6,
号 9,
p. e25059,
発行日 2011
|
| 旧ID |
34771 |
PLoS-One_6_e25059.pdf (736.0 KB)
