广西壮族人群CYP1B1基因Arg48Gly和Ala119Ser多态性研究

Study on gene polymorphisms of CYP1B1 Arg48Gly and Ala119Ser among Guangxi Zhuang Nationality population

目的研究CYP1B1密码子48和119在广西壮族人群遗传特征。方法用聚合酶链反应-限制性片断长度多态性技术对278例广西壮族正常成人进行CYP1B1 Arg48Gly和Ala119Ser基因分型,并分析两位点基因型是否存在连锁不平衡、性别差异及与国内外其他人群分布频率差异。结果 CYP1B1 Arg48Gly和Ala119Ser基因分型无性别差异,且存在连锁不平衡(D'为0.81,r2为0.59),与国内四川和上海人群相应位点基因型分布频率无差异;但与日本、印度、波兰、美国黑人和白人等人群相应位点基因型分布频率差异有统计学意义(P<0.01)。结论广西壮族人群CYP1B1 Arg48Gly和Ala119Ser基因型分布频率无性别差异,且存在连锁不平衡,与其他部分种族存在明显差异。

Objective To investigate hereditary character of cytochrome P450 1B1（CYP1B1） codon 48 and codon 119 among Guangxi Zhuang Nationality population（GZNP）.Methods Gene polymorphisms of CYP1B1 in codon 48 and codon 119 were detected with polymerase chain reaction-restriction fragment length polymorphism techniques in 278 healthy GZNP.Linkage disequilibrium（LD） between the two loci was analyzed.The genotype frequencies of CYP1B1 codon 48 and codon 119 in GZNP were compared with other groups in China,other countries and regions.Results There was no difference between female and male population in allele and genotype frequencies of CYP1B1 Arg48Gly and Ala119Ser among GZNP.In the other hand,there was LD between the two loci（D′=0.81,r2=0.59）.The frequency distribution of genotype in GZNP had no great differences with Shanghai and Sichuan,but those had significant differences with other contries such as Japan,India,Poland,and America（P0.01）.Conclusion Gene polymorphisms of CYP1B1 in Arg48Gly and Ala119Ser had LD,no gender difference,and were different from those in other countries.