【摘要】 目的探讨NKX2.5的基因突变与新疆地区维吾尔族房间隔缺损(atrial septal defect,ASD)之间的关系。方法收集120例散发型维吾尔族ASD患者和120例健康维吾尔族人群血液样本进行DNA提取、目的基因聚合酶链反应及测序,并与Gene Bank标准序列进行比较以识别NKX2.5基因变异,采用χ~2检验比较NKX2.5基因多态在ASD患者和健康对照者间的频率分布差异。结果 120例ASD患者中未检测出NKX2.5基因突变,而在病例组和对照组发现2个不改变氨基酸的单核苷酸多态(single nucleotide polymorphisms,SNP),c.63 A>G多态(rs2277923)和c.606G>C多态(rs3729753),两个多态位点在CHD患者和健康时照者间分布的比较无显著性差异(P>0.05)。结论 NKX2.5基因突变与新疆维吾尔族ASD的发生之间相关性可能是间接的。更多还原

【Abstract】 Objective:To investigate the association of NKX2.5 gene mutation with atrial septal defect(ASD)in Uygur patients in Xinjiang. Methods:The blood samples were collected from 120 Uygur patients with sporadic ASD admitted in the People′s General Hospital of Xinjiang. One hundred and twenty unrelated healthy Uygur individuals were used as controls. The coding regions of NKX2.5 was amplified by PCR. The PCR products were sequenced and compared to Gene Bank sequence databases. The difference of polymorphic frequency distributions between ASD patients and controls was tested by Chi-square test. Results:No pathogenic mutations were found among the patients. Two single nucleotide polymorphisms of the NKX2.5 gene were identified in ASD patients. One is at nucleotide 63 of the coding sequence(c. 63A>G,rs2277923),and the other is at nucleotide 606(c. 606G>C,rs3729753). However,the polymorphic frequency distribution of c.63A>G and c.606G>C in ASD cases were not statistically different from that in healthy controls(P>0.05). Conclusion:NKX2.5 mutations are very rare in Uygur patients with ASD,there may be indirect association between NKX2.5 mutation and occurrence of ASD in Uygur people.更多还原