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。 Objective: To investigate the distribution of FAVal34Leu polymorphism in Chinese population. Methods: The mutations of FAVal34Leu in 676 healthy Chinese and 500 normal Newfoundland Caucasians were detected by polymerase chain reaction and restriction fragment length polymorphism (PCRRFLP) and analyzed. Results: The distribution frequency and locus frequency of FALeu34 in Newfoundland Caucasians were 48.2% and 27.3% respectively, while those in Chinese population were 0.3% and 0.15%, respectively (P <0.01). Conclusion: The distribution of FAVal34Leu is characterized by geographical differences and ethnic heterogeneity. The distribution frequency of FAVal34Leu is extremely low in Chinese population.