Polymorphisms and mutations of EDNRB gene in Hubei provincial patients of Han ethnicity with Hirschsprung disease / 中国普通外科杂志
Chinese Journal of General Surgery
; (12)2001.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-528460
Biblioteca responsável:
WPRO
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
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Aspecto:
Determinantes sociais da saúde
Idioma:
Chinês
Revista:
Chinese Journal of General Surgery
Ano de publicação:
2001
Tipo de documento:
Artigo