OBJECTIVETo establish the genetic background of exon2, exon13, exon11 and exon15 polymorphisms of RET proto-oncogene and study the possible involvement of RET proto-oncogene in the etiology of Hirschsprung disease (HD) in Chinese Han population surrounding Province HuBei.

METHODSThe genotype and allele frequencies of RET proto-oncogene polymorphisms were identified by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLPS) in 94 HD patients and 122 control subjects.

RESULTSThe genotype and allele frequencies of exon2 were AA 0.17, AG 0.72, GG 0.11, A 0.53, G 0.47 in control, and AA 0.61, AG 0.35, GG 0.04, A 0.78, G 0.22 in HD, and those of exon13 were GG 0.30, GT 0.52, TT 0.18, G 0.56, T 0.44 in control, and GG 0.49, GT 0.36, TT 0.15, G 0.67, T 0.33 in HD. There were significant differences in the two polymorphisms above between HD and control. The genotype and allele frequencies of exon11 were AA 0.05, AG 0.16, GG 0.79, A 0.13, G 0.87 in control and AA 0.02, AG 0.14, GG 0.84, A 0.09, G 0.91 in HD, the differences were not found between these two groups about this site. Exon15 were all of CC genotype in spite of control or HD.

CONCLUSIONSThese data provide evidences for the contributions of exon2 and exon13 polymorphisms of RET proto-oncogene to susceptibility to HD in Chinese Han population surrounding province.