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上海地区汉人PAI-1基因多态性初步研究

RFLPs FOR TaqI, SacI AND HindⅢ AT THE HUMAN PAI-1 GENE IN HAN CHINESE OF SHANGHAI
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摘要 用^(32)P-标记的人PAI-1 cDNA探针分别与8种不同的限制性内切酶消化的上海地区汉人中正常人及血浆PAI-1升高的血栓患者的外周血白细胞DNA进行分子杂交,发现下列酶切片段多态性:TaqⅠ 2.7kb和1.8kb,频率分别为0.96及0.04,就基因型而言,2.7kb纯合子占91%,2.7kb/1.8kb杂合子占9%;SacⅠ 23kb和16kb,频率分别为0.96及0.04,23kb纯合子占91%,23kb/16kb杂合子占9%;HindⅢ25kb和14kb,频率分别为0.34及0.66,25kb纯合子、25kb/14kb杂合子和14kb纯合子分别占23%、46%和31%。其中,TaqⅠ的1.6kb属首次报道。在血浆PAI升高的血栓病人没有发现特异性相关片段。 Using human PAI-1 cDNA as a probe, we studied the restriction fragment length polymorphisms (RFLPs) with 8 different endonucleases in 35 unrelated Hant Chinese of Shanghai and 5 thrombotic patients with high level of PAI activity. The results were: TaqⅠ detected allelic 2.7 kb and 1.8 kb fragments, with the frequencies of 0.96 and 0.04 respectively; Sac Ⅰ identified one invariant 4.8 kb band and a two-allele polymorphism with fragments of either 23 kb or 16 kb, with the frequencies of 0.96 and 0.04; HindⅢ reveled a single two-allele polymorphism with bands at either 25 kb or 14 kb, with the frequencies of 0.34 and 0.66, The restriction fragment with a size of 1.6 kb for TaqⅠ was first reported in the present paper. No specific fragment linked with thrombosis was found in RFLP analysis of these thrombotic patients with high plasma level of PAI activity.
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 1993年第3期141-143,T010,共4页 Chinese Journal of Medical Genetics
关键词 纤溶酶原 基因 多态性 遗传学 群落 Plasminogen activator-1 RFLP Genetics, population
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