Academic Journal
Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients
| العنوان: | Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients |
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| المؤلفون: | Hagiwara, Koichi, Morino, Hiroyuki, Shiihara, Jun, Tanaka, Tomoaki, Miyazawa, Hitoshi, Suzuki, Tomoko, Kohda, Masakazu, Okazaki, Yasushi, Seyama, Kuniaki, Kawakami, Hideshi |
| بيانات النشر: | Public Library of Science |
| سنة النشر: | 2011 |
| المجموعة: | Hiroshima University: Institutional Repository (HiR) / 広島大学学術情報リポジトリ |
| Time: | 490 |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | PLoS ONE, 6(9), e25059; http://dx.doi.org/10.1371/journal.pone.0025059 |
| DOI: | 10.1371/journal.pone.0025059 |
| الاتاحة: | http://ir.lib.hiroshima-u.ac.jp/00034771 https://doi.org/10.1371/journal.pone.0025059 |
| 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. |
| رقم الانضمام: | edsbas.9C307206 |
| قاعدة البيانات: | BASE |
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