GENETIC SCREENING FOR THE HEREDITARY BLEEEDING DISORDERS IN JAPANESE BLACK CATTLE

日本黑牛遗传性出血性疾病的基因筛查

• 批准号: 03660324
• 负责人: OGAWA Hiroyuki
• 金额: $ 1.41万
• 依托单位: MIYAZAKI UNIVERSITY
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (C)
• 财政年份: 1991
• 资助国家: 日本
• 起止时间: 1991 至 1993
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-03660324/
• 关键词: Bovine; Bleeding disorder; Platelet; Factor VIII; Factor XIII; Genetic screening; 第XIII因子; 遺伝スクリ-ニング

The inherited hemorrhagic syndrome have been found in some specific areas in Japan since 1982. Three different diseases were divided by their etiologies, those were Chediak-Higashi syndrome(C-HS), hemophilia like disease, and factor XIII dificiency. The possible diagnosis of hemophilia like disease was considered to be von Willebrand disease, type III on the basis of decreased levels of factor VIII,of the prolonged bleeding time, and of the type of autosomal recessive inheritance. Quntitative genetic analysis suggested that these three diseases were transmitted by autosomal recessive traits. No biochemicl test was efficient for detecting the carriers in C-HS and hemophilia like disease. But, factor XIII carriers could be screeened out by their medial levels of factor XIII.To detect carriers of the two, we are going to do more research on genetic diagnosis for both diseases.

自1982年以来，在日本的一些特定地区发现了遗传性出血综合征。根据病因可分为三种不同的疾病，即Chediak-Higashi综合征（C-HS）、血友病样疾病和因子XIII缺乏症。根据因子VIII水平降低、出血时间延长和常染色体隐性遗传类型，血友病样疾病的可能诊断被认为是III型血管性血友病。定量遗传学分析表明，这三种疾病均为常染色体隐性遗传。目前尚无检测C-HS和血友病样疾病携带者的生化试验。但是，可以通过其中间水平的因子XIII筛选出因子XIII携带者。为了检测这两种疾病的携带者，我们将对这两种疾病的基因诊断进行更多的研究。