一种F　Ⅸ基因多态性在我国人群中的检出

DETECTION OF A NEW POLYMORPHISM OF FACTOR Ⅸ IN CHINESE POPULATION

利用聚合酶链反应和限制性内切酶ＢｓｔｕⅠ酶解技术，对１０９条Ｘ染色体上因子Ⅸ基因内含子Ⅰ第１９２位核苷酸Ａ和Ｇ的基因频率进行了分析，发现中国人因子Ⅸ－１９２Ａ和Ｇ的基因频率分别为０．８１和０．１９，女性杂合子频率为０．３１。该发现有利于我国血友病Ｂ携带者筛查和产前基因诊断。

With polymerase chain reaction the 300bp DNA fragments were amplified from 109 factor Ⅸ genes.The specific DNA fragment were then digested with endonuclease Bstu Ⅰ.When the base 192 was A two bands,178 and 122bp were seen in 88 factor Ⅸ genes.The frequencies were 0.81.When the base 192 A was substituted by G a new Bstu Ⅰ recognition sequence(CGCG) was created.Three bands of 155,122 and 23bp were shown in 21 factor Ⅸ genes.The gene frequencies were 0.19.The female heterozygous showed all four bands and the frequencies were 0.31.The new polymorphism seems to be useful for carrier detection and prenatal diagnosis of hemophilia B in Chinese population.