RET原癌基因与先天性巨结肠相关性的分子遗传学研究进展  

The Progress of Molecular Genetic Study on the Correlation between RET Proto-oncogene and Hirschsprung Disease

作　　者：刘翠平[1] 李继承[1] 

机构地区：[1]浙江大学细胞生物学研究所,杭州310058

出　　处：《细胞生物学杂志》2008年第1期15-18,共4页Chinese Journal of Cell Biology

基　　金：浙江省医药卫生科学基金资助项目(No.2002A027)~~

摘　　要：先天性巨结肠(hirschsprung disease,HSCR),又称肠无神经节细胞症,是典型的肠神经系统发育异常疾病。目前已经发现11种基因和5个易感位点与HSCR发病相关。其中RET原癌基因(RETproto-oncogene,RET)是主要的易感基因。虽然大部分HSCR发病风险都与RET基因相关,但只有不到15%的散发性HSCR患者发生RET基因编码区的突变。近期研究发现,RET基因非编码区的调节性突变可能在HSCR发生中起重要作用。现着重对RET基因与HSCR相关性的最新研究进展进行综述。Hirschsprung disease （HSCR） is a common congenital malformation, which also named congenital aganglionsis. Until now mutations in 11 genes and allele sharing with 5 loci have been identified as risk factors in HSCR. Of the above genes, RET proto-oncogene （RET） was proved to be the major genetic risk factor. In the common simplex cases, however, no more than 15% of patients possess RET coding mutations, but most patients do show haplotype sharing at the RET locus. Recently, it was indicated that the possible presence of the mutations in the RET untranslated regions or in its regulatory sequences may play an important role in HSCR. This review focused on progress on the correlation between RET and HSCR.

关 键 词：RET 非编码区突变 先天性巨结肠 

分 类 号：R726.5[医药卫生—儿科]