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目的在前期工作定位的单纯性先天性心脏病(CHD)易感区域12q13内,选取GLI1基因编码区内2个已知单核苷酸多态(SNP):rs11553626和rs2228226,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。方法对2000年1月至2005年6月于中国医科大学第一临床学院和沈阳军区总医院收集的180例单纯性CHD患者及200名正常人,应用变性高效液相色谱(DHPLC)结合测序分析2个SNP位点基因型,应用χ2检验统计分析CHD组和对照组各SNP位点基因型频率及等位基因频率。结果rs11553626位点未检测到多态;rs2228226位点存在G/C多态,CHD组和对照组等位基因频率分布(χ2=8·956,P<0·005)及基因型频率分布(χ2=11·286,P<0·005)差异显著,CHD组G等位基因频率及GG、GC基因型频率增高,CC基因型频率降低。结论GLI1基因编码区SNP位点rs11553626在中国东北人群中可能不存在多态性;rs2228226位点与单纯性CHD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 To detect two SNPs in the GLI1 gene coding region, rs11553626 and rs2228226, in the simple predisposing 12q13 region of simple congenital heart disease (CHD) CHD patients and normal population distribution, analysis of its association with simple CHD. Methods One hundred and eighty simple CHD patients and 200 normal subjects collected from the First Clinical College of China Medical University and Shenyang Military Region General Hospital from January 2000 to June 2005 were analyzed by denaturing high performance liquid chromatography (DHPLC) combined with sequencing analysis Two genotypes of SNP loci were genotyped. The genotype frequency and allele frequency of each SNP locus in CHD group and control group were statistically analyzed byχ2 test. Results Polymorphism was not found in rs11553626 locus. There was G / C polymorphism in rs2228226 locus. The frequency distribution of allele in CHD group and control group (χ2 = 8.9556, P <0.001) and genotype frequency distribution (χ2 = 11.286, P <0 · 005). The frequencies of G allele, GG and GC genotypes were higher in CHD group and CC genotype frequencies were lower. Conclusion There may be no SNP rs11553626 in the GLI1 gene coding region in northeastern China population. Rs2228226 locus is significantly associated with simple CHD, while CH allele with G allele is associated with a higher risk of CHD.