新疆地区维吾尔族先天性心脏病患者CITED2基因突变分析

Study of association between CITED2 gene mutation and congenital heart disease in Uygur patients in Xinjiang

目的 分析新疆维吾尔族先天性心脏病（CHD）患者与CITED2基因突变的关系.方法 收集150例散发型维吾尔族CHD患者和150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,与GeneBank进行比较以识别基因突变,并分析氨基酸序列.结果 一例室间隔缺损患者发现1个新的纯合突变c.574A＞G,并导致相应氨基酸序列错义突变（p.Ser192Gly）,该突变在CITED2基因丝氨酸-甘氨酸富含区,而在健康对照组中未发现此突变.结论 新疆维吾尔族CHD患者中首次发现了CITED2基因纯合突变,Serl92GIy突变所在序列呈现一定保守性,可能与CHD发生有关.

Objective To investigate the association of CITED2 gene mutation with congenital heart disease（CHD） in Uygur patients in Xinjiang. Methods The blood samples were collected from 150 Uygur patients with sporadic CHD admitted in the People’s General Hospital of Xinjiang from August from January 2013 to October 2015. One hundred and fifty unrelated healthy Uygur individuals were used as controls. The coding regions of CITED2 was amplified by PCR. The PCR products were sequenced and compared to GeneBank sequence databases. Results A homozygous A to G mutation was found in one patient with ventricular septal defect at nucleotide 574 in coding region of CITED2 gene, resulting in a missense mutation（p.Serl92Gly） which located in Serine-glycine rich junction（SGJ） region. Other patients and healthy individuals were normal. Conclusion The CITED2 gene homozygous mutation was first discovered in the Uygur CHD patients in Xinjiang, and the sequence of the mutation（p.Serl92Gly） was conservative, which may be one of the cause for CHD.