安徽人F Ⅷ基因内及其旁侧RFLPs的研究  

The factor Ⅷ gene RFLPs in Anhui population

作　　者：杨善志[1,2] 章晓琳[1,2] 杨辉[1,2] 徐彬[1,2] 许岳慷[1,2] 朱霖 张旭[1,2] 叶文虎 

机构地区：[1]安徽省优生优育遗传医学中心 [2]安徽省立医院妇产科

出　　处：《安徽医科大学学报》1997年第5期545-547,共3页Acta Universitatis Medicinalis Anhui

摘　　要：研究若干不相关安徽人个体的四个凝血因子Ⅷ（ＦⅧ）基因内限制性片段长度多态性（ＲＦＬＰｓ）（ＢｃｌⅠ、ＨｉｎｄⅢ、ＸｂａⅠ、ＭｓｐⅠ）及四个基因旁侧的ＲＦＬＰｓ（ＢｓｔｘⅠ、ＰｓｔⅠ、ＭｓｐⅠ和ＡｃⅠ）。ＢｃｌⅠ／ＨｉｎｄⅢ、ＸｂａⅠ、ＭｓｐⅠ基因内多态位点的杂合子频率分别为０．２３、０．４２、０．４９６。在接近内含子２２处，发现了两个额外的ＸｂａⅠ多态位点。在基因旁侧，应用ＢｓｔｘⅠ和ＰｓｔⅠ发现安徽人ＤＸＳ１１５区存在ＲＦＬＰｓ，但未见ＭｓｐⅠ及ＡｃｃⅠ的ＲＦＬＰｓ。此外，在ＢｃｌⅠ、ＸｂａⅠ、ＭｓｐⅠ位点间存在不同程度的连锁不平衡现象。主题词甲型血友病；限制性片段长度多态性；Four intragenic RFLPs (Bcl Ⅰ/F 8e16 19 ,Hind Ⅲ/F 8e16 19 , Xba Ⅰ/F 8i22 , MspⅠ/F 8e21 24 ) and four extragenic RFLPs (Bstx Ⅰ,Pst Ⅰ, Msp Ⅰ, Acc Ⅰ/767) were studied in a number of unrelated Anhui population. The frequencies of heterozygous BclⅠ/Hind Ⅲ, Xba Ⅰ, Msp Ⅰ intragenic polymorphic sites were 0 23,0 42,0 496, respectively. Two additional Xba Ⅰ polymorphisms in intron 22 were observed. Among the extragenic polymorphisms, with restriction enzyme Bstx Ⅰ and Pst Ⅰ, RFLPs around the DXS 115 locus existed in Anhui population. But neither Msp Ⅰ nor Acc Ⅰ RFLPs was observed in the DXS 115 region. Meanwhile, linkage disequilibrum to some degree among Bcl Ⅰ, Xba Ⅰ, Msp Ⅰwere observed.

关 键 词：甲型血友病 凝血因子 Ⅷ基因 RFLPS 

分 类 号：R554.1[医药卫生—血液循环系统疾病]