Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease

The correlation of single nucleotide polymorphism (SNP) rs10569304 on the second expressed region of hole gene and congenital heart disease (CHD) of human being, and the effect of hole gene on CHD were investigated. 179 patients with CHD as CHD group and 183 healthy people as control group were selected in the case-control study. DNA was abstracted from the peripheral blood by phenol-chloroform method. Primer was designed for the flanking sequence of SNP rs10569304 on the second expressed region of hole gen...     

HOLE基因外显子2区SNP与先天性心脏病的关联研究

目的:研究HOLE基因外显子2区SNP与人类先天性心脏病(CHD)的相关性.方法:以病例组179例CHD患者和对照组183例门诊体检健康人为研究对象,酚-氯仿法提取外周血DNA,PCR扩增产物经变性丙烯酰胺电泳鉴定基因型.应用卡方检验分析组间基因型频率及等位基因频率差异.结果:(1)粤黔两地汉族人群中存在HOLE基因SNP m10569304的插入缺失(GCC/-)多态性,对应为等住基因A/B.(2)对照组和病例组的基因型频率及等位基因频率符合Hardy-Weinberg平衡,两组AA、AB和BB三种基因型频率分别为21.31%、54.09%、24.59%和16.75%、46.36%、36.87%,经卡方检验基因型分布差异有统计学意义(x2=6.51,P<0.05),与对照组相比,病例组中BB基因型频率升高,AA、AB基因型频率降低.(3)对照组与病例组A和B等位基因频率分别为48.36%,51.64%和39.94%,60.06%,病例组B等位基因频率显著高于对照组.分布差异有显著性(X2=5.20,P<0.05).结论:粤黔两地汉族人群中HOLE基因SNP rs10569304存在插入缺失(GCC/-)多态性,具有BB基因型的个体罹患CHD的危险度增高.