先天性巨结肠RET基因突变及相关疾病分析

先天性巨结肠（Hirschsprung‘s disease,HD)是常见的先天性消化道畸形。其病因尚未明了，最近研究表明原癌基因RET的突变在HD发病中起主要作用。方法：采集30例散发性先天性巨结肠和30例正常儿童的全血标本，提取基因组；采用聚合酶链反应（PCR）和单链构象多态（SSCP）技术分析RET基因的第6、10、16外显子。结果：2例患儿存在第10外显子的突变。其中1例家庭中有MEN2A患者；1例患儿存在第16外显子的突变。结论：RET基因突变可能是导致先天性巨结肠发生的重要原因之一。MEN2A和先天性巨结肠的发生可能有一定联系。

Mutation of RET proto-oncogene and analysis of correlated disease in patients with Hirschsprung's disease

The etiology of Hirschsprung's disease (HD) which is a common congenital malformation of the digestive tract remains unclear. The study recently showed the mutation of RET proto-oncogene can be responsible for the pathogene-sis of HD. 30 children with HD and 30 normal children were enrolled in this study. Genome DNA was isolated from the whole blood of all 60 cases. Exon 6, 10 and 16 of RET proto-oncogene were advanced amplified and analyzed by polymerase chain reaction (PCR) and single-strand conformation polymorphism (SSCP). The results showed that two patients were detected with the mutation of exon 10 and one patient with the mutation of exon 16. One of two patients with the mutation of exon 10 was found to have the patient with multible endocrine neoplasia type 2A(MEN2A) in his family. It is concluded that the mutation of RET proto-oncogene can play an important role in the occurrence of HD, and MEN2A correlate probably with the HD.