一种FⅨ基因多态性在广西人群中的检出

A polymorphism of factor Ⅸ in the Guangxi People

目的研究广西人群ＦⅨ（凝血因子Ⅸ）基因多态性。方法利用聚合酶链反应（ＰＣＲ）和限制性内切酶Ｔｒｕ９Ｉ（同功酶即ＭｓｅＩ）酶解技术，对１２０名志愿者进行研究。结果首次在广西人群中发现ＦⅨ基因５′侧翼６９８位核苷酸存在Ｔｒｕ９Ｉ多态性，该多态性由８３ｂｐ／５８ｂｐ＋２５ｂｐ组成，二者的基因频率在受检的１８０个ＦⅨ基因中，分别为０．６２２和０．３７８，女性杂合子频率为０．４７３。结论该发现有助于血友病乙携带者的检测及产前基因诊断。

Objective To study the polymorphism of factor Ⅸ in Guangxi population. Methods Polymerase chain reaction (PCR) and restriction endonuclease digestion technique were used to examine the polymorphism of FⅨ in 120 volunteers of Guangxi population. Results A Tru9 I (MSE I) restriction fragment length polymorphism (RFLP) in the 5′ flanking region of the FⅨ gene was first identified in Guangxi. The polymorphism was constituted by three bands, 83 bp/58bp+25 bp. When the base 698 of 5′flanking region was C, a band, 83bp was seen. The frequencies were 0.622. When the base 698 was substituted by T, a new Tru9 I recognition sequence (TTAA) was created. Two bands of 58 bp and 25 bp were shown. The frequencies were 0.378. The female heterozygous showed all three bands and the frequencies were 0.473. Conclusion The findings seem to be useful for carrier detection and prenatal diagnosis of hemophilia B in Guangxi population.