浙江地区汉族人群caspase-3基因三个位点的单倍型研究

目的分析汉族人群caspase-3基因的单核苷酸多态性(singlenucleotidepolymorphisms,SNPs)位点及其构成的单倍型,为研究caspase-3基因对凋亡调节机制的个体差异提供线索。方法用变性高效液相色谱技术和DNA测序技术检测caspase-3基因的调控区、第2～7外显子及部分侧翼序列的多态性位点;分析位点间的连锁不平衡关系,估算它们构成的单倍型。结果共检出3个SNP位点(C829A、A17532C、C20541T),分别位于caspase-3基因的5′端调控区、第4内含子和3′调控区;3个位点间存在强连锁不平衡,其中位点A17532C与C20541T呈完全连锁不平衡;54.3%的C-829/A-17532/C-20541是汉族人群的主要单倍型。结论浙江地区汉族人群caspase-3基因上的3个SNP位点间存在强连锁不平衡,它们构成的主要单倍型不同于北美人群。

The haplotypes of three single nucleotide polymorphisms in caspase-3 gene in Han nationality of Zhejiang province in China

OBJECTIVE: To investigate the single nucleotide polymorphisms (SNPs) and the distribution of their haplotypes in caspase-3 gene in Zhejiang Han nationality in China. METHODS: Denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing were used to detect the SNPs in the regulatory region and the exons 2-7 and their flanking sequences in caspase-3 gene. Expectation maximization (EM) algorithm was used for haplotype frequencies analysis and pairwise linkage disequilibrium test. RESULTS: (1) Three SNPs were identified in caspase-3 gene; the three sites C829A, A17532C and C20541T were located in 5' regulatory region, intron 4 and 3' regulatory region, respectively. (2) Strong linkage disequilibrium was found among these SNPs; site A17532C and C20541T were in complete linkage disequilibrium. (3) C-829/A-17532/C-20541 (54.3%) was the main haplotype of Zhejiang Han nationality. CONCLUSION: The above findings indicated there is strong linkage disequilibrium among the three SNPs in caspase-3 gene in Han nationality of Zhejiang province and the main haplotype of Han nationality is obviously different from that of North American.