凝血因子Ⅷ基因内二核苷酸重复序列在云南省傣、彝和汉族人群中的多态性研究  

Study on the Polymorphism of Intron 22 (CA)n Repeat within FⅧ Gene in Dai,Yi and Han Populations of Yunnan Province

作　　者：台虹[1] 甸自金[1] 欧阳红梅[1] 李震宇[1,2] 万海英 阮长耿[1,2] 

机构地区：[1]云南省第一人民医院检验科,昆明650032 [2]江苏省血液学研究所,苏州医学院第一附属医院血栓与止血研究室,苏州215006

出　　处：《中国实验血液学杂志》2000年第2期142-144,共3页Journal of Experimental Hematology

基　　金：云南省科委应用基础研究基金资助 编号96C139M

摘　　要：研究云南省傣、彝和汉族人凝血因子Ⅷ基因内含子 2 2 (CA)n二核苷酸重复序列的多态性 ,获取高多态信息量的分子遗传标志。应用聚合酶链反应 (PCR)和DNA序列分析技术及聚丙烯酰胺凝胶电泳 (PAGE)对该位点的基因频率及多态信息量进行调查。结果发现 ,傣族和彝族中至少有 (CA)n拷贝数为 2 4 ,2 5和 2 6的 3种等位基因片段 ,两民族中的频率分布分别为 1 2 % -5 7 5 %和 16 .4 3% - 6 3 0 0 % ;汉族人群中至少有 5种等位基因片段 ,(CA)n拷贝数分别为 2 4 ,2 5 ,2 6 ,2 7和 2 8,频率分布在 8 97% - 32 0 0 %。在上述三种民族人群中均未发现FⅧ基因内含子 2 2二核苷酸重复序列的杂合子。本研究的结果提示 ,目前至少可认为该位点不宜作为云南省傣。This study was designed to investigate the polymorphism of intron 22(CA)n repeat within FⅧ gene in Dai, Yi and Han populations of Yunnan province. PCR, DNA sequencing technique and PAGE were used in this study. The results showed that three different alleles corresponding to 24, 25 and 26 dinucleotides were found at this locus and the allele frequency ranged from 1.20% to 57.7% in Dai and from 16.43% to 63.00% in Yi populations. In Han population, five different alleles with 24, 25, 26, 27 and 28 (CA)s were found, the allele frequency ranged from 8.97% to 32.00%. Heterozygotes of intron 22 (CA) repeat within FⅧ gene were not found in the three populations. In conclusion, it was obvious that the locus cannot be acted as DNA genetic marker of FⅧ gene in the three populations in Yunnan.

关 键 词：凝血因子Ⅷ基因 血友病A 多态性 

分 类 号：R394[医药卫生—医学遗传学]