中国人第8因子基因的RFLPs研究  

The factor Ⅷ gene RFLPs in Chinese

作　　者：叶文虎 杨善志 杨素霞 徐彬 杨辉 许岳慷 张旭 朱霖 

机构地区：[1]安徽省医学遗传中心,合肥230032 [2]安徽省妇幼保健所

出　　处：《中国优生与遗传杂志》1997年第4期9-11,共3页Chinese Journal of Birth Health & Heredity

摘　　要：对若干不相关中国人个体进行了4个基因内RFLPs（BclⅠ／F8e16－19，HindⅢ／F8e16-19，XbaⅠ／F8i22，MspⅠ／F8e21－24）及几个基因外RFLPs（TaqⅠ／St14-1，BstxⅠ，PstⅠ，MspⅠ，AccⅠ／767）的研究，杂合子BclⅠ／HindⅢ，XbaⅠ，MspⅠ基因内多态位点的频率分别为0．23，0．44，0．496，接近IVS22处，发现了两个额外的XbaⅠ多态性。在基因外多态性中，在DXS52区域，用探针Stl4－1检测到两个TaqⅠ等位系统，杂合子频率为0．69，0．5。此外，用限制性内切酶BstxⅠ和PstⅠ发现中国人群中DXS115区也存在RFLPs，但在该区没有发现MspⅠ及AccⅠRFLPs。同时，还观察到在BclⅠ和HindⅢ之间，有完全连锁不平衡，在BclⅠ，XbaⅠ，MspⅠ间有不同程度的连锁不平衡现象。Four intragenic RFLPs (Bcl Ⅰ/F8e 16-19,Hind Ⅲ/F8e 16-19, Xba Ⅰ/F8i22, Msp Ⅰ/F8e 21-24) and five extragenic RFLPs (Taq Ⅰ/St14 - 1,Bstx Ⅰ, Pst Ⅰ, Msp Ⅰ, Acc Ⅰ/767) were studied in a number of unrelated individual Chinese. The Frequences of heterozygous Bcl Ⅰ/Hind Ⅲ, Xba Ⅰ,Msp Ⅰ intragenic polyrmorphic sites were 0.23,0. 44, 0. 496, respectively. Two addition Xba Ⅰpolymorphisms closed to the IVS 22 were observed. Among the extragenic polymorphisms,two Taq Ⅰ allelic systems in the DXS 52 region were detectable by probe St14-1 and give the frequencies of heterozygote 0. 69, 0. 5, respectively.In addition, with restriction enzyme Bstx Ⅰ and Pst Ⅰ. RFLPs around the DXS 115 locus also existed in Chinese. But neither Msp Ⅰ nor Acc Ⅰ RFLPs was observed in the DXS115 region. Meanwhile, completed linkage disequilibrium between Bcl Ⅰ and Hind Ⅲ sites and some degree linkage disequilibrium among Bcl Ⅰ, Xba Ⅰ, Msp Ⅰ were observed too.

关 键 词：血友病 甲型血友病 第8因子基因 RFLP 

分 类 号：R554.104[医药卫生—血液循环系统疾病]