中国人群中FⅧ-AVal34Leu分布频率和位点频率检测

目的:探讨中国人群中FAVal34Leu基因多态性的分布。方法:利用聚合酶链反应和限制性片段长度多态性(PCRRFLP)方法,检测了676例正常中国人和500例纽芬兰高加索正常人群的FAVal34Leu的突变情况,并加以对照分析。结果:纽芬兰高加索人群中FALeu34的分布频率和位点频率分别为48.2%和27.3%,中国人群中分别为0.3%和0.15%,差异有统计学意义(P<0.01)。结论:FAVal34Leu的分布存在着地理差异与种族异质性,在中国人群中的分布频率极低。

Factor XIII VaU34Leu polymorphism and risk of recurrent pregnancy loss in Iranian population： a case control study

BACKGROUND： Recurrent pregnancy loss （RPL） is a heterogeneous condition and thrombophilias have been considered as a probable cause. OBJECTIVE： The aim of this study was to investigate the prevalence of the coagulation factor XIII Va134Leu polymorphism among women with unexplained RPL. METHODS： A total of 140 women with a history of unexplained RPL and 100 age-matched healthy fertile women were recruited. The presence of FXIII Va134Leu polymorphism among the cases and controls was investigated using PCR-RFLP method. RESULTS： Genotype analyses of the subjects revealed that the patients had a significantly higher prevalence of V/L and L/L than the controls （P〈 0.05）： 33.5% vs. 15%, and 9.2% vs. 2%, respectively. CONCLUSION： These results indicate a significant association between FXIII Va134Leu polymorphism and unexplained RPL in the Iranian patient.