论文部分内容阅读
目的研究CYP1B1第432密码子在广西壮族人群中遗传特征,为进一步研究CYP1B1基因多态性与疾病的发生易感性奠定基础。方法采用人工修饰双等位基因特异性引物扩增法(diASA-AMP)技术对288名广西壮族正常成人进行CYP1B1 Leu 432 Va1基因分型,探讨性别间差异及与国内外其他人群分布频率差异。结果广西壮族女性和男性人群CYP1B1 Leu 432 Va1均以C等位基因为主,分别为89.1%和91.4%;CC野生纯合子型、CG杂合子型和GG突变纯合型在女性人群中分别为78.3%、21.3%和0,男性人群则为83.6%、15.6%和0.8%;统计分析表明,广西壮族CYP1B1 Leu 432 Va1等位基因和基因型分布频率无性别差异,与朝鲜人群相应位点基因型分布频率无差异,但与国内江苏汉族、上海和四川女性相比具有统计学差异(P<0.05),与日本、印度、波兰、尼日利亚、美国白人和美国黑人等人群相应位点基因型分布频率有明显差异(P<0.01)。结论广西壮族人群CYP1B1基因Leu 432 Va1呈多态性分布,基因型分布频率无性别差异,存在种族差异。
Objective To study the genetic characteristics of the 432nd codon of CYP1B1 in Guangxi Zhuang population and lay the foundation for further study of CYP1B1 gene polymorphism and disease susceptibility. Methods The genotypes of CYP1B1 Leu 432 Va1 in 288 normal adults in Guangxi Zhuang population were genotyped by artificial modified double allele-specific primer amplification (diASA-AMP) technique to explore the differences in gender and frequency distribution with other populations at home and abroad. Results CYP1B1 Leu 432 Va1 in Guangxi Zhuang women and men were mainly C allele with 89.1% and 91.4%, respectively. CC wild homozygous, CG heterozygous and GG homozygous homozygotes in female population were 78.3%, 21.3% and 0 respectively. The male population was 83.6%, 15.6% and 0.8% respectively. Statistical analysis showed that there was no gender difference in the distribution frequency of CYP1B1 Leu 432 Va1 allele and genotype in Guangxi Zhuang nationality, (P <0.05). The genotype distributions were the same as those in Japan, India, Poland, Nigeria, white Americans and black Americans. The frequency was significantly different (P <0.01). Conclusion CYP1B1 gene Leu 432 Va1 was polymorphic in Guangxi Zhuang population. There was no gender difference in the frequency of genotype distribution and there was racial difference.