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: 06454131
• 负责人: OGAWA Hiroyuki
• 金额: $ 4.35万
• 依托单位: MIYAZAKI UNIVERSITY
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 1994
• 资助国家: 日本
• 起止时间: 1994 至 1996
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-06454131/
• 关键词: Bovine; Bleeding disorder; Platelet dysfunction; von Willebran factor; Factor XIII; Cenetic screening; von Willebrand因子; 血小板; von Willbrand 因子; 遺伝子スクリーニング

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.

自1982年以来，我们对300头失血的日本黑牛进行了调查，发现散发性出血性疾病不是一种单一的疾病，而是起源于切迪亚克-东氏综合征、血友病样病和凝血因子XIII缺乏三种疾病。1)分离分析和定量遗传分析表明，Chediak-Higashi综合征(C-HS)、血友病样病和凝血因子XIII缺乏症是常染色体隐性遗传病。2)Von Willebrand因子活性测定和多聚体分析表明，血友病样病为von Wliiebrand病III型。3)未建立携带者检测携带者的方法。4)在FXIII缺乏症中，携带者血浆FXIII活性降低，FXIII亚单位A基因突变被检测到，并证实该突变与该缺陷有关。然后，用聚合酶链式反应-限制性片段长度多态性方法成功地筛选出XIII因子携带者。被测试的公马中有10%被发现是携带者。

项目成果

TU C-H,TAKAHASHI Y,KASEDA Y,UCHIDA K,YAMAGUCHI R,SUZUKI K,OGAWA H,OTSUKA H.: "Inheritance of Chediak-Higashi Syndrome in Japanese Black Cattle." J.Vet.Med.Sci.58(6). 501-504 (1996)

TU C-H、TAKAHASHI Y、KASEDA Y、UCHIDA K、YAMAGUCHI R、SUZUKI K、OGAWA H、OTSUKA H.：“日本黑牛 Chediak-Higashi 综合征的遗传。”

杜杰憲ほか: "臍帯出血を主徴とする黒毛和種牛の出血性疾患" 日獣会誌. 49巻4号. 237-240 (1996)

杜杰肯等：“以脐带出血为主要症状的日本黑牛出血病”，日本动物学会杂志，第49卷，第237-240期（1996年）。

TU C-H,IKEYA M,WADA T,GOTO M,NONAKA I,MIKAWA K,ITO T,UCHIDA K,YAMAGUCHI R,MURAKAMI T,KASEDA Y,OGAWA H,OTSUKA H.: "Bleeding Disorder in Japanese Black Cattle with Umbilical Cord Bleeding as a Major Clinical Sign." J.Jan.Vet.Med.Assoc.49(4). 237-240 (1996)

TU C-H、IKEYA M、WADA T、GOTO M、NONAKA I、MIKAWA K、ITO T、UCHIDA K、YAMAGUCHI R、MURAKAMI T、KASEDA Y、OGAWA H、OTSUKA H.：“日本黑牛脐带出血性疾病

Tu.C-H et al.: "Inheritance of Chediak-Higashi Syndrome in Jpn.Black Cattle" J.Vet.Med.Sci.58(6). 501-504 (1996)

Tu.C-H 等人：“日本黑牛 Chediak-Higashi 综合征的遗传”J.Vet.Med.Sci.58(6)。

Tu,C.H et al.: "Inheritame of Chcdiak-Higashi Syndrome in Jap.Black Cattle" J.Vet.Med.Sci. 58(6). 501-504 (1996)

Tu,C.H 等人：“日本黑牛 Chcdiak-Higashi 综合征的遗传”J.Vet.Med.Sci。