[Association between RET proto-oncogene polymorphisms and Hirschsprung disease in Chinese Han population of Hubei district].
OBJECTIVE
To 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.


METHODS
The 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.


RESULTS
The 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.


CONCLUSIONS
These 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.
Department of General Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Han-song
HS
Du
Guo-bin
GB
Wang
Ying
Y
Zhang
Kai-xiong
KX
Tao
Shao-tao
ST
Tang
Yan-feng
YF
Niu
D000483:Alleles; D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D002681:China; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006627:Hirschsprung Disease / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D011110:Polymorphism, Genetic; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret