hsp60基因多态性在中国汉族人中的分布

目的 检测中国汉族人热休克蛋白60（heat shock protein 60,hsp60）基因调控区和编码区的单核苷酸多态性（single nucleotide polymorphisms,SNPs）,寻找hsp60基因的遗传标记.方法 采用分片段扩增直接测序的方法检测60名汉族人hsp60基因的5＇侧翼区、部分编码区和内含子区,将测序结果与美国国家生物技术信息中心（National Center for Biotechnology Information,NCBI）及国际人类基因组单体型图计划（International HapMap Project,HapMap）中日本人、欧洲人及非洲人的序列进行对比,确定中国汉族人群hsp60基因SNPs的位置、类型和频率.结果 在hsp60基因2号外显子区发现1个新的同义SNP,位于2号染色体198189061位,最小等位基因频率（the minor allele frequency,MAF）为0.025.检测区域内包含11个已报道的SNPs,7个未在研究人群中检出;4个被检出的SNPs为rs1116734、rs3749095、rs1050347、rs8539,MAF分别为0.51、0.30、0.29、0.49;rs1116734、rs1050347、rs8539在日本人和中国汉族人群中的分布相似;rs3749095在中国汉族人中较常见,在日本人种中未检出;rs8539在欧洲及非洲人中的分布与在中国人的分布差异有统计学意义（P＜0.01）.结论 中国汉族人群hsp60的SNPs分布有别于其他人种,rs1116734、rs3749095、rs1050347、rs8539是hsp60基因在中国汉族人群中较常见的SNPs,可为Hsp60蛋白功能研究及hsp60基因与疾病关联研究候选SNPs的选择提供科学依据.

Polymorphisms of hsp60 gene in Chinese Han people

OBJECTIVE: To identify the single nucleotide polymorphisms (SNPs) in the regulatory and coding regions of heat shock protein 60 gene and search for its genetic makers in Chinese Han people. METHODS: The 5' flank region, parts of the exons and introns of hsp60 gene were resequenced to identify the SNPs in Chinese Han people, and then the sequenced results to the Japanese, European and African's data in National Center for Biotechnology Information (NCBI) and HapMap databases were compared. RESULTS: One novel SNP was identified in exon 2 resulting in synonymous variant and the G allele frequency was 0.025. There were 11 reported SNPs in the sequenced region. The minor allele frequencies of rs1116734, rs3749095, rs1050347, rs8539 were 0.51, 0.30, 0.29, 0.49. The heterozygosity of the other 7 SNPs was 0. The distributions of rs1116734, rs1050347, rs8539, rs3749095 in Chinese Han people were similar to the Japanese's. The hsp60 rs3749095 which was not found in Japanese people was a high-frequency SNP in Chinese Han people; the distribution of rs8539 in Chinese Han people was quite different from European and African's (P < 0.01). CONCLUSION: The SNPs of hsp60 in Chinese Han people are different from the other peoples. The SNPs of hsp60 gene rs1116734, rs3749095, rs1050347, rs8539 are very common in Chinese Han people and might be used for candidate genetic markers of hsp60 gene.