Polymorphisms and mutations of EDNRB gene in Hubei provincial patients of Han ethnicity with Hirschsprung disease
- VernacularTitle:湖北汉族人群先天性巨结肠症内皮素受体B基因多态性与突变的研究
- Author:
Yanfeng NIU
;
Guobin WANG
;
Xiaoming LU
;
Shaotao TANG
;
Hansong DU
;
Peng YANG
;
Kaixiong TAO
;
Mingfa WEI
- Publication Type:Journal Article
- Keywords:
Hirschsprung Disease/ethnic;
Hirschsprung Disease/genet;
Receptors, Endothelin;
Mutations;
Polymorphism
- From:
Chinese Journal of General Surgery
2001;0(09):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the relationship between polymorphisms of EDNRB gene and Hubei provincial patients of Han ethnicity with sporadic Hirschsprung disease(sHD). Methods Peripheral blood samples from 104 patients with sHD and 84 parents of 42 patients, and 120 normal children(as controls) were collected. PCR-SSCP and direct DNA sequencing were used to detect mutations and polymorphisms of exon-4 in EDNRB gene. The differences of allele frequencies and genotype distribution in polymorphic sites were further analyzed between the three groups. Allele frequencies of SNPs in forty-two sHD trios were analyzed by transmission disequilibrium test(TDT), and the association between phenotype of HD and SNPs was analyzed. Results No mutant site was detected and one polymorphic site of c831 G→A(L277L) was observed in Hubei provincial patients of Han ethnicity with sHD. The allele frequency of A(68% vs 53%) and genotype frequency of AA(49% vs 30%) were significantly higher in sHD group than that in control group(P
