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中国人第8因子基因的RFLPs研究

The factor Ⅷ gene RFLPs in Chinese

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【作者】 叶文虎杨善志杨素霞徐彬杨辉许岳慷张旭朱霖

【Author】 Ye Wenhu;Yang Shanzhi, et al. (Anhui Medical Genetic Center, Hefei, 230031).

【机构】 安徽省医学遗传中心!合肥230032安徽省妇幼保健所

【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。

【Abstract】 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】 甲型血友病限制性片段长度多态性第8因子
【Key words】 Hemophilia ARFLPsF Ⅷ gene
  • 【文献出处】 中国优生与遗传杂志 ,CHINESE JOURNAL OF BIRTH HEALTH & HEREDITY , 编辑部邮箱 ,1997年04期
  • 【分类号】R394
  • 【下载频次】28
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