我国福建汉族人HSP70基因多态性分析

Analysis of heat shock protein 70 gene polymorphisms in Fujian Han population of China

目的了解福建省汉族人HSP70基因多态性分布,进而为探讨HSP70基因多态性与疾病的相关性提供遗传背景资料。方法应用聚合酶链反应技术、限制性内切酶分析检测了127名福建汉族正常人的HSP70基因3个多态性位点,并比较了部分不同地区和人群之间的基因型与等位基因频率。结果福建汉族人HSP70-1基因型(GG,GC和CC)分布频率分别是55.1%、40.2%和4.7%;HSP70-2基因型(AA,AG和GG)分布频率分别是44.1%、48.8%和6.9%;HSP70-hom基因型(TT,TC和CC)分布频率分别是59.8%、37.0%和3.2%;HSP70-1等位基因频率G和C分别是75.2%和24.8%;HSP70-2等位基因频率A和G分别是68.5%和31.5%;HSP70-hom等位基因频率T和C分别是78.3%和21.7%。福建汉族人HSP70-1的基因型分布和等位基因频率同日本、墨西哥人群比较差异无统计学意义,与美国和西班牙人比较,差异有统计学意义(P<0.01)。福建汉族人HSP70-1的GG纯合型(55.1%)显著高于美国(42.6%)和西班牙(33.0%)人群;福建汉族人HSP70-2的基因型分布和等位基因频率与日本人比较差异无统计学意义,与墨西哥、美国和西班牙人群比较,差异有统计学意义(P<0.05),福建汉族人HSP70-2的AA纯合型(44.1%)高于墨西哥(23.0%)、美国(38.8%)和西班牙(20.0%)人群;福建汉族人群的HSP70-hom基因型和等位基因频率分布同日本、墨西哥、美国和西班牙人群的基本一致,差异无统计学意义,福建汉族人群的HSP70基因型和等位基因频率分布同中国台湾汉族人基本一致,差异无统计学意义,与武汉地区汉族人某些位点存在差异。结论福建汉族人HSP70基因多态性分布不同于某些地区的人群,具有种族和地区差异。

Objective To understand the distribution of heat shock protein 70（HSP70） genepolymorphisms in Chinese Han population and to provide the genetic bacEground for the co-relation between HSP70 polymorphism and disease. Methods Three polymorphic loci in HSP70 gene in 127 normal Chinese Han people in Fujian province were analysed by PCR and restriction enzyme analysis and compared the genotype and allele frequency of HSP70 in different populations from different area. Results HSP70-1 genotype GG, GC and CC are 55.1%, 40.2% and 4.7% respectively, HSP70-2 genotype AA, AG and GG are 44.1%, 48.8% and 6.9% respectively, and HSP70-hom genotype Tr, TC and CC are 59.8%, 37.0% and 3.2% respectively. The allele frequencies of G and C in HSP70-1 are 75.2% and 24.8% respectively. The allele frequencies of G and A in HSP70-2 are 68.5% and 31.5% respectively. The allele frequencies of T and C in HSP70-hom are 78.3% and 21.7% respectively. The distribution of HSP70-1 polymorphism in Chinese Han population is almost the same as it is in Japanese and Mexican populations, but different from that in American and Spanish populations, the difference is significant （P〈0.05）. The frequency of GG homozygote in HSP70-1 is significantly higher than that in American and Spanish populations. No significant difference was found in the distribution of HSP70-2 polymorphism between Chinese and Japanese, but different from that in Mexican, American and Spanish populations, the difference is significant（ P 〈 0.05）. The frequency of AA homozygote in HSP70-2 is significantly higher than that in Mexican, American and Spanish populations. The distribution of HSP70-hom genotype and allele frequeocy in Chinese Han population is almost the same as it is in Japanese and Mexican populations. The genotype distribution and allele frequency of HSP70 in Fujian Han population is almost the same as those in Taiwan Han population, but is different from those in Wuhan Han population in certain loci. Conclusion The distribution of HSP70 gene polymorphism in Chinese Han population is different from that in some other regions. The difference exists as regard to race and region.