中国人凝血因子Ⅸ基因MseⅠ多态性

THE MSE I POLYMORPHISM OF FACTOR IX CENE INCHINESE POPULATION

利用聚合酶链反应（ＰＣＲ）和限制性内切酶ＭｓｅⅠ酶解分析，发现我国人群凝血因子ＩＸ（ＦｌＸ）基因５’侧翼－６９８位核苷酸存在ＭｓｅＩ多态性，该多态性由８３ｂｐ／５８ｂｐ＋２５ｂｐ组成。在受检的１１８个ＦＩＸ基因中，二者基因频率分别为０．６３５和０．３６５，多态性信息量为０．４６３。此系我国人群中发现的第二种限制性片段长度多态（ＲＦＬＰ），有助于血友病乙携带者的检测及产前基因诊断。

new polymorphism site of base 698 (C/T) was rec-ognized when a 520 bp (865-345) DNA fragment of fac-tor iX gene was amplified with polymerase chain reactiontPCR) followed by digestion with restriction endonucle-ase Mse I.DNA from 46 males and 36 females (Total 118 factorIX alleles) were assayed- Mse I (T) was present in 43alleles and Mse I (C) in 75 alleles, the frequency was0. 365 and 0. 635 respectively. Thus about half of Chi-nese women should be heterozygous.This new polymorphism of factor IX gene in Chinesepopulation would be helpful for carrier detection and prenatal diagnosis of hemophilia B.