Abstract: Objective To investigate the distribution of rs10783826,one single nucleotide polymorphisms (SNPs) in the coding-region of GLI1 gene,in Kunshan area,and determine the relationship between GLI1 gene and congenital heart disease (CHD). Methods Genotypes of the SNP were analyzed in 90 CHD patients and 90 normal controls by Denatured High Performance Liquid Chrom atography (DHPLC) and sequencing from August 2011 to May 2013.χ² test was applied to analyze the genotype frequency and allele frequency be tween CHD groups and control groups. Results The rs10783826 of GLI1 gene was not statistically different between the CHD group and the control group(χ²=0.75,P=0.68),and the T allele carriers had no statistical difference between G allele carriers during CHD groups and control groups(χ²=1.40,P=0.23). Conclusions GLI1 gene rs10783826 polymorphism is not associated with CHD.The allele is not affect CHD in newborn.

Key words: glioma associated oncogene homolog1, polymorphism, congenital heart disease, newborn

摘要： 目的 在前期工作定位的先天性心脏病(CHD)易感区域内,选取GLI1 基因编码区内的1个已知单核苷酸多态(SNP):rs10783826,检测其在CHD新生儿和正常健康新生儿中的分布情况,分析其与CHD的相关性。方法 采用病例对照研究,选择90名CHD新生儿(病例组)和90名健康新生儿(健康对照组)。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术进行GLI1基因rs10783826位点多态性检测,分析该多态位点基因型频率和等位基因频率在病例组和对照组的分布,比较该位点不同基因型与CHD患病风险的关系。应用SAS9.2软件进行统计学分析。结果 GLI1基因的多态性位点rs10783826基因型频率和等位基因频率在病例组与对照组之间差异无统计学意义(χ²=0.75,P=0.68),且等位基因T携带者与等位基因G携带者在患CHD的风险上差异无统计学意义(χ²=1.40,P=0.23)。结论 GLI1基因rs10783826多态性与CHD不存在相关性。该等位基因对先心病尚不构成影响。

关键词: GLI1, 基因多态性, 先天性心脏病, 新生儿