[Association study between mutations of transcription regulator sequences of COL1A1 gene and idiopathic con-genital talipes equinovarus].
Yi Chuan
; 30(6): 723-7, 2008 Jun.
Article
em Zh
| MEDLINE
| ID: mdl-18550494
ABSTRACT
RT-PCR was used to detect the expressions of COL1A1 mRNA in 20 patients with idiopathic congenital talipes equinovarus (ICTEV). The primers were designed by Primer 5 according to sequences of -1 031 bp~ +30 bp and the first intron of COL1A1. PCR-DGGE was used to screen the mutations in COL1A1 gene. Expression of COL1A1 on mRNA levels showed significantly higher in patients with ICTEV than in normal persons (t=12.680, P < 0.05). By DNA sequencing, a -161(T--> C) heterozygous mutation and a+ 274(C-->G) homozygous mutation were detected, and both were new identified mutations. These results indicated that the mutations in transcription regulator sequences of COL1A1 could cause ICTEV.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Pé Torto Equinovaro
/
Colágeno Tipo I
Tipo de estudo:
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
Idioma:
Zh
Revista:
Yi Chuan
Assunto da revista:
GENETICA
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
China