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目的探讨GATA4基因与单纯性先天性心脏病的相关性。方法2001年,收集沈阳军区总医院心脏外科62个单纯性先天性心脏病(CHD)家系,选择GATA4基因编码区内4个可引起氨基酸改变的cSNP,应用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)分析该62个单纯性CHD核心家系206名成员的基因型;应用ETDT软件进行单位点关联分析;应用2LD软件进行配对连锁不平衡检验;应用TRANSMIT软件进行单体型分析。结果Q19E(rs1139240)位点未检测到多态。L39V(rs1139241)、P66A(rs1139244)和G377S(rs3729856)位点存在多态。单位点关联分析显示L39V位点χ2=6·178(P<0·05),P66A位点χ2=8·607(P<0·05),G377S位点χ2=9·842(P<0·05)。配对连锁不平衡检验显示L39V和P66A之间存在连锁不平衡(D’=0·999999)。单体型分析共观察到4种单体型,只有2种单体型的频率大于3%,但却占单体型总数的97·7%。这两种单体型的总体统计χ2=1·0345(P>0·05)。结论Q19E在本文人群中未检测到多态;L39V、P66A和G377S3个位点与单纯性CHD有明显的相关性(P<0·05)。
Objective To investigate the relationship between GATA4 gene and simple congenital heart disease. Methods In 2001, 62 families with simple congenital heart disease (CHD) were collected from the Department of Cardiology, Shenyang Military Region General Hospital. Four cSNPs that could cause amino acid changes in the coding region of GATA4 gene were selected. The polymerase chain reaction - restriction fragment length PCR-RFLP was used to analyze the genotypes of 206 members of the 62 simple CHD nuclear families. Single point association analysis was performed using ETDT software; 2LD software was used to test the linkage disequilibrium; haplotypes were analyzed using TRANSMIT software analysis. Results No polymorphism was detected in Q19E (rs1139240). L39V (rs1139241), P66A (rs1139244) and G377S (rs3729856) sites exist polymorphisms. The single point association analysis showed that the L39V locus χ2 = 6 · 178 (P <0 · 05), P66A locus χ2 = 8 · 607 (P <0.05), G377S locus χ2 = 9 · 842 05). The paired linkage disequilibrium test showed linkage disequilibrium between L39V and P66A (D ’= 0.999999). A total of 4 haplotypes were observed in the haplotype analysis. Only 2 haplotypes were more than 3% but accounted for 97.7% of the total haplotypes. The overall statistics for these two haplotypes were χ2 = 1.0345 (P> 0.05). Conclusion Q19E polymorphism was not detected in this population of people; L39V, P66A and G377S3 sites were significantly associated with simple CHD (P <0.05).