中国汉族人群MASP2基因单核苷酸多态性的连锁不平衡和单体型分析

目的：探讨中国汉族人群甘露糖结合凝集素相关的丝氨酸蛋白酶（MASP2）基因单核苷酸多态性（SNP）的连锁不平衡和单体型,为相关研究提供更为详实的数据。方法：选取30例广州汉族无关个体,用重新测序的方法进行MASP2基因SNP的发掘,构建连锁不平衡（LD）模式,与HapMap公布的其他4个人群数据相比,并选择4个标签SNP（tagSNP）在232例北京汉族个体和291例广州汉族个体中分析MASP2的多态性和单体型。结果和结论：对MASP2的重测序共检测出16个SNP,LD分析显示来自中国不同地区人群的LD模式基本相同,与来自美国和日本的人群存在差异;北京和广州地区汉族人群tagSNP的等位基因和基因型频率分布不存在显著差异。

Linkage Disequilibrium and Haplotype of Single Nucleotide Polymorphism in MASP2 Gene in Chinese Han Population

Objective： We studied the linkage disequilibrium and haplotype of single nucleotide polymorphism（SNP） in mannan binding leetin（MBL）-assoeiated serine protease 2（MASP2） gene in the Chinese Han population in order to providing more detailed data for associated study. Methods： We screened for polymorphisms of MASP2 gene in all exons, 5＂ and 3＂ flanking regions and untranslated regions in 30 cases of Guangzhou Han population by PCR-sequencing, and linkage disequilibrium（LD） calculation was performed. The 4 tagSNP were genotyped in 232 Beijing Han individuals and 291 Guangzhou Han individuals. Results ＆ Conclusion： 16 SNP were detected. Compared with the data of the orther four groups released by the HapMap, LD of the Chinese population from different regions were the basically same, the population from the United States and Japan were different. Allele and genotype frequencies between the two Han population do not exit significant differences.