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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。
Objective To investigate the relationship between NKX2.5 gene mutation and atrial septal defect (ASD) in Xinjiang Uygur Autonomous Region. Methods Blood samples of 120 sporadic Uygur ASD patients and 120 healthy Uygur nationals were collected for DNA extraction, PCR and sequencing, and compared with Gene Bank standard sequence to identify NKX2.5 gene mutation. ~ 2 test to compare NKX2.5 gene polymorphism in ASD patients and healthy controls the frequency distribution difference. Results No mutations in NKX2.5 gene were detected in 120 cases of ASD patients. However, two single nucleotide polymorphisms (SNPs) of amino acids and c.63 A> G were found in cases and controls (Rs2277923) and c.606G> C polymorphism (rs3729753). There was no significant difference in the distribution of the two polymorphic loci between CHD patients and healthy controls (P> 0.05). Conclusion The correlation between NKX2.5 gene mutation and the occurrence of Uygur ASD in Xinjiang may be indirect.