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Investigation of the susceptibility gene for COPD by homozygosity fingerprinting method

纯合指纹法研究COPD易感基因

基本信息

批准号：
18390242
负责人：
HAGIWARA Koichi
金额：
$ 10.73万
依托单位：
Saitama Medical University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
2006
资助国家：
日本
起止时间：
2006 至 2007
项目状态：
已结题

项目摘要

The elucidation of the responsible gene for the multigene diseases is a difficult but an important subject. In this area, the whole genome association approach is frequently employed. However, the method is applicable only to diseases of which frequency is high, and the result often lacks reproducibility. We have invented the Homozygosity Fingerprinting method that targets multigene diseases. It is a non-parametric method applicable to recessive genes. We have determined several parameters for the method using Haldane's Poisson process model for the recombination of the chromosome, and established theoretical background for the identification of recessive genes that are derived from a small number of ancestors and now spread into the population. Using the parameter, we analyzed 6 patients with alpha-1 antitrypsin deficiency, with 45 HapMap Japanese data as a control. Although the 6 patients were from different areas of Japan, we could identify the location of alpha1-antitrypsin gene from their genotyping data. With the use of 1000k GeneChip recently available, we are able to identify genes derived from common ancestors who lived 600 years ago. The method is applicable even to the diseases that are caused by several genes, and thus is considered to be useful for the identification of such genes.The method has already approved Japanese patent (No. 4059517) and now being transferred to international phase.

阐明多基因疾病的致病基因是一个困难而又重要的课题。在这一领域，全基因组关联方法经常被采用。然而，该方法仅适用于频率高的疾病，并且结果常常缺乏再现性。我们发明了针对多基因疾病的纯合性指纹方法。它是一种适用于隐性基因的非参数方法。我们已经确定了几个参数的方法，使用Halfman的泊松过程模型的染色体重组，并建立了理论背景的隐性基因，来自少数祖先，现在传播到人口的识别。使用该参数，我们分析了6例α-1抗胰蛋白酶缺乏症患者，45例HapMap日本数据作为对照。虽然这6例患者来自日本不同地区，但我们可以从他们的基因分型数据中确定α 1-抗胰蛋白酶基因的位置。随着最近可用的1000 k基因芯片的使用，我们能够识别来自600年前共同祖先的基因。该方法甚至适用于由几个基因引起的疾病，因此被认为对鉴定这些基因是有用的，该方法已批准日本专利（No.4059517），目前正在转入国际阶段。

项目成果

期刊论文数量（0）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

The homozygosity haplotype allows a genome-wide search for the autosomal segments shared among disease patients

纯合单倍型允许在全基因组范围内搜索疾病患者共享的常染色体片段

DOI：
发表时间：
期刊：
American Joural of Human Genetics (In Press)
影响因子：
0
作者：
Miyazawa H.;Kato M.;Awata T.;Kohda M.;Iwasa H.;Koyama N.;Tanaka T.;Huqun;Kyo S.;Okazaki Y.;Hagiwara K.
通讯作者：
Hagiwara K.

Homozygosity haplotype allows a genomewide search for the autosomal segment shared among patients

纯合单倍型允许对患者之间共享的常染色体片段进行全基因组搜索