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目的探讨新疆维吾尔族单纯性先天性心脏病(congenital heart disease,CHD)与GATA4基因突变的关系。方法对 165例维吾尔族单纯性CHD患者(CHD组)和165例维吾尔族体检健康者(对照组)血液样本进行DNA提取、目的基因PCR反应及测序,与GeneBank和英国人类基因突变数据库(HGMD)进行比较以识别基因突变,并对氨基酸序列进行分析。结果 CHD组3例检出致病GATA4基因突变,具体为c.1138 G>A(p.Val380Met),c.1180 C>A(p.Pro394Thr),c.1220C>A(p.Pro407Gln),其中1例房间隔缺损患者携带p.Pro394Thr突变为1个新突变,1例室间隔缺损患者同时携带p.Val380Met和p.Pro407Gln突变,临床罕见;对照组均未发现GATA4基因突变。结论新疆维吾尔族单纯性CHD患者GATA4基因突变率较低,GATA4基因突变可能是部分CHD患者的病因。
Objective To investigate the relationship between congenital heart disease (CHD) and GATA4 gene mutation in Uighur in Xinjiang Uygur Autonomous Region. Methods DNA was extracted from 165 Uygur simple CHD patients (CHD group) and 165 Uygur healthy subjects (control group). The PCR products were sequenced and compared with those of GeneBank and HGMD. Comparisons were made to identify gene mutations and amino acid sequence analysis. Results The mutations of the pathogenic GATA4 gene were detected in 3 cases in CHD group, including c.1138 G> A (p.Val380Met), c.1180 C> A (p.Pro394Thr), c.1220C> A (p.Pro407Gln) One case of atrial septal defect patients carrying p.Pro394Thr mutation into a new mutation, a case of ventricular septal defect patients carrying both p.Val380Met and p.Pro407Gln mutations, clinical rare; no GATA4 gene mutations were found in the control group. Conclusion The mutation rate of GATA4 gene in simple Uygur CHD patients in Xinjiang is low, and GATA4 gene mutation may be the etiological factor of some CHD patients.