The relationship between Hirschsprung disease and single nucleotide polymorphisms of c135 in RET proto-oncogene
- VernacularTitle:先天性巨结肠与RET基因c135位点单核苷酸多态性相关性分析
- Author:
Xiansheng ZHANG
;
Ying ZHOU
- Publication Type:Journal Article
- Keywords:
Hirschsprung's disease;
RET proto-oncogene;
single nucleotide polymorphisms
- From:
Journal of Xi'an Jiaotong University(Medical Sciences)
2004;0(05):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To make sure if there is single nucleotide polymorphisms(SNP) of c135 in RET proto-oncogene in Han ethnic group of Shaan Xi,China and investigate the relationship between Hirschsprung disease(HSCR) and SNP of RET proto-oncogene c135.Methods A total of 40 blood samples were collected from healthy donors through cluster sampling in Xi'an,Shaan Xi province.Sixteen tissues in aganglionic segments of HSCR were studied(they were all sporadic in Han ethnic group of Shaan Xi province of China and diagnosed by pathology).DNA was isolated from above samples and PCR amplified.The fragment of products were 300 case pairs(bp) which located in RET exon2 including c135.All of fragments were purified and directly sequenced and analyzed by related software and statistical methods.Results There really existed the single nucleotide polymorphisms of c135 A/G of RET in controls.A,G allele frequency was 0.475 and 0.525,respectively,and there was no distinctive dominant genotype.In patient group,A,G allele frequency was 0.844 and 0.156,respectively.c135A genotype was dominant in patients.There was significant statistical difference between patients and controls in RET c135A/G(PA.There is relationship between the disease and the c135 A genotype of RET.c135A genotype in the RET proto-oncogene are over-expressed in patients with Hirschsprung disease.
