Mutation of RET proto-oncogene in Hirschsprung's disease and intestinal neuronal dysplasia.

ABSTRACT:

Aim

To investigate the genetic relationship between Hirschsprung's disease (HD) and intestinal neuronal dysplasia (IND) in Chinese population.

Methods

Peripheral blood samples were obtained from 30 HD patients, 20 IND patients, 18 HD/IND combined patients and 20 normal individuals as control. Genomic DNA was extracted according to standard procedure. Exons 11,13,15,17 of RET proto-oncogene were amplified by polymerase chain reaction (PCR). The mutations of RET proto-oncogene were analyzed by single strand conformational polymorphism (SSCP) and sequencing of the positive amplified products was performed.

Results

Eight germline sequence variants were detected. In HD patients, 2 missense mutations in exon 11 at nucleotide 15165 G-->A (G667S), 2 frameshift mutations in ex

SUBMITTER: Tou JF 

PROVIDER: S-EPMC4087911 | biostudies-literature | 2006 Feb

REPOSITORIES: biostudies-literature