中国人FⅧ基因内XbaI多态性研究与甲型血友病基因诊断  

Xbal Polymorphism in Intron 22 of Factor Ⅷ and Gene Potential for Prenatal Diagnosis of Hemophilia A

作　　者：沈岩[1] 吴冠芸[1] 刘毅 王申五 刘敬忠[1] 姜先华 龙桂芳[3] 梁荣[3] 金琪[3] 孙念怙[4] 王凤云[4] 吴玉珍[4] 宁阳[4] 

机构地区：[1]中国医学科学院基础医学研究所 [2]辽宁省刑事技术研究所 [3]广西医学院附属医院 [4]北京协和医院

出　　处：《中国医学科学院学报》1990年第4期281-285,共5页Acta Academiae Medicinae Sinicae

摘　　要：本文研究了中国人FⅧ基因22内含子中限制酶XbaⅠ的多态性。在83个中国人的79条无遗传关系的X染色体中,该多态性位点出现的频率为0.56,提供的多态性信息量为0.49。利用RFLP法,分析了17个甲型血友病家系,其中14个家系可以用此RFLPs进行基因诊断。认为核RFLPs作为FⅧ基因内的多态性遗传标志,在甲型血友病基因携带者检出和胎儿出生前诊断中具有重要的应用价值。Polymorphism of an XbaI restriction endonuclease site in intron 22 of the factor Ⅷ gene was studied . 79 heredity-unrelated X chromosomes from 83 Chinese were analyzed .The frequency of the polymorphic site was 0.56, providing polymorphism information content (PIC ) of 0.49. Fourteen out of 17 families with hemophilia A could be diagnosed by the Xba 1/22i restricted fragment length polymorphism (RFLPs). Therefore , as a genetic marker within the factor Ⅷ gene , Xba I/22i RFLPs should be useful for prenatal diagnosis of hemophilia A and for detection of its carriers

关 键 词：甲型血友病 基因诊断 多态性 

分 类 号：R554.104[医药卫生—血液循环系统疾病]