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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。
Objective To analyze single nucleotide polymorphisms (SNPs) of caspase-3 gene and haplotypes of caspase-3 gene in Han population and provide clues for studying the differences of caspase-3 gene on the mechanism of apoptosis regulation. Methods The regulatory region of caspase-3 gene, polymorphic sites of exons 2 ~ 7 and some flanking sequences were detected by denaturing high performance liquid chromatography (HPLC) and DNA sequencing. The linkage disequilibrium between the two sites was analyzed. They constitute haplotypes. Results A total of 3 SNP sites (C829A, A17532C and C20541T) were found in the 5 ’regulatory region, intron 4 and the 3’ regulatory region of caspase-3 gene respectively. Strong linkage between the three sites The loci A17532C and C20541T showed complete linkage disequilibrium; 54.3% of C-829 / A-17532 / C-20541 were the major haplotypes of Han population. Conclusions There are strong linkage disequilibrium among the three SNP sites in the caspase-3 gene of Han population in Zhejiang province, which constitute the major haplotypes different from North American population.