GLI1基因内2个SNP位点与单纯性先天性心脏病的关联研究  

Association analysis between 2 SNPs of GLI1 gene and simple congenital heart defect

作　　者：邱广蓉[1] 韩秀敏[2] 宫立国[1] 徐小延[1] 辛娜[1] 孙开来[1] 

机构地区：[1]中国医科大学医学遗传学教研室,辽宁沈阳110001 [2]沈阳军区总医院,辽宁沈阳110016

出　　处：《中国实用内科杂志：临床前沿版》2006年第7期1056-1058,共3页

基　　金：国家自然科学基金资助(30200305);辽宁省教育厅基金资助(202013133;2004C045)

摘　　要：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。In the candidate region 12q13 of simple congenital heart defect （CHD）, two single nucleotide polymorphisms （SNPs） in the coding- region of GLI1 gene, rs11553626 and rs2228226, were chosen to investigate their distribution in 180 simple CHD patients and 200 normal controls which were collected in the first affliated hospital, China Medical University and The General Hospital of Shenyang Military Area, in order to determine the relationship between GLI1 gene and simple CHD. Methods Genotypes of these two SNPs were analyzed in 180 simple CHD patients and 200 normal controls by Denatured High Performance Liquid Chromatography （DHPLC） and sequencing from Jan. 2000 to Jun. 2005. x^2 test was applied to analyze the genotype frequency and allele frequency between CHD groups and control groups. Results No polymorphisms were found at rs11553626 while G/C polymorphisms were found at rs2228226. Remarkable significance was observed at rs2228226 in the allele frequency distribution （x^2 = 8. 956, P 〈 0. 005 ） and the genotype frequency distribution （x^2 = 11. 286, P 〈 0. 005 ） between CHD groups and normal controls. In simple CHD groups, the G allele frequency, the GG and GC genotype frequency were higher, and CC genotype frequency was lower. Conclusion No polymorphisms might exist at rs11553626 in Northeast Chinese population. rs2228226 is associated with simple CHD and people with G allele at rs2228226 have much higher risk in the pathogenesis of simple CHD.

关 键 词：心肌缺损 先天性 GLI1基因 单核苷酸多态 变性高效液相色谱 

分 类 号：R5[医药卫生—内科学]