HoxC5基因内2个SNP位点与单纯性先天性心脏病的关联研究  

Correlation Analysis between 2 SNPs of HoxC5 and Simple Congenital Heart Disease

作　　者：宫立国[1] 邱广蓉[1] 邱广斌[2] 崔娴维[2] 孙开来[1] 

机构地区：[1]中国医科大学遗传教研室,辽宁沈阳110001 [2]解放军202医院检验科

出　　处：《中国实验诊断学》2004年第6期567-570,共4页Chinese Journal of Laboratory Diagnosis

基　　金：国家自然基金项目(30200305)

摘　　要：目的在前期工作定位的人类单纯性先天性心脏病易感区域12q131～133内,选取HoxC5基因内2个已知单核苷酸多态(SNP)rs2071448、rs2071450,检测其在单纯性CHD患者和正常人群中的分布情况,分析其与单纯性CHD的相关性。方法应用变性高效液相色谱法(DHPLC)结合测序分析108名单纯性先天性心脏病患者及200名正常人2个SNP位点基因型,应用χ2检验统计分析患者组和对照组基因型频率及等位基因频率。结果编码区SNP位点rs2071448未检测到多态;位于HoxC5基因3,侧翼序列的SNP位点rs2071450存在AG多态,且患者组G等位基因频率及AG、GG基因型频率均明显高于对照组(P<005)。结论HoxC5基因编码区SNP位点rs2071448在中国东北人群中可能不存在;3,侧翼序列的SNP位点rs2071450与单纯性先天性心脏病有明显的相关性,具有G等位基因的人发生CHD的危险性相对增高。Objective In the candidate region 12q13.1～13.3 of simple Congenital Heart Disease(CHD), we choose two single nucleotide polymorphisms(SNPs) of HoxC5(rs2071448 and rs2071450) to investigate their distributing conditions in simple CHD patients and normal people. By the results, we can know whether the SNPs is associated with simple CHD. Methods We analyse genotypes of 2 SNPs in 108 simple CHD patients and 200 normal people by Denatured High-Performance Liquid Chromatography(DHPLC) and sequencing. χ2 test was applied to analyze the genotype frequency and gene frequency between CHD groups and control groups. Results Rs2071448 located in coding region was not be detected; Rs2071450 located in 3, flanking sequence of HoxC5 gene exists A/G polymorphism. The G allele frequency of simple CHD patients were higher than those of healthy controls(χ2=5.04, P<0.05); The genotype frequency is also different between two groups(χ2=9.53, P<0.01).Conclusion Rs2071448 maybe not exist in Northeast populations; Rs2071450 which located in 3, flanking sequence of HoxC5 gene is associated with simple CHD.

关 键 词：先天性心脏病 单核苷酸多态 变性高效液相色谱 

分 类 号：R725.4[医药卫生—儿科]