GENETIC SCREENING FOR THE HEREDITARY BLEEEDING DISORDERS IN JAPANESE BLACK CATTLE

从1982年以来对300头日本黑牛出血症的调查中，我们发现，散发性出血症不是一种单一的疾病，而是由Chediak-Higashi综合征、血友病样病和凝血因子XIII缺乏症三种疾病共同引起的。本研究试图寻找这些出血性疾病的携带者检测方法。1）分离分析和定量遗传学分析表明，Chediak-Higashi综合征（C-HS），牛类血友病和凝血因子XIII缺乏症为单纯常染色体隐性遗传。2）VWF活性测定和多聚体分析表明，类血友病为VWF III型。3）在C-HS和vWD中未建立携带者检测的筛选方法。4）在因子XIII缺乏中，携带者血浆因子XIII活性降低，检测到因子XIII A亚单位基因的突变，并证实该突变与缺陷的连锁。应用PCR-RFLP方法成功地筛选出因子XIII携带者。百分之十的被测试的公马被发现是携带者。

From our investigations on three hundred of bleeding Japanese black cattle since 1982, we have reported that the sporadic hemorrhagic disease is not a single disease, but it originates in three diseases of Chediak-Higashi syndroml, hemophilia like disease and factor XIII deficiency. In this study, we attempt to find the carrier detection method in these bleeding disorders.1) Segregation analyzes and quntitative genetic analyzes showed that Chediak-Higashi syndrome (C-HS), hemophilia like disease and factor XIII deficiency in cattle were simple autosomal recessive traits.2) Von Willebrand factor activity assay and multimer analysis showed that Hemophilia like disease was von Wliiebrand disease type III.3) Screening method for carrier detectin was not established in C-HS and vWd.4) In factor XIII deficiency, plasma factor XIII activity was decreased in carriers and A mutation in the gene for factor XIII subunit A was detected and linkage of this mutation with the defect was confirmed. Then, factor XIII carriers could be screeened out by PCR-RFLP method successfully. Ten percent of sires tested were found to be carriers.