Open AccessAssociation study between mutations of transcription regulator sequences of<I>COL1A1</I>gene and idiopathic congenital talipes equinovarus
Author(s) -
Ning Zhao,
Chen Jin,
Liying Liu,
Deliang Cao,
Chen Lin,
Shijun Ji,
Kun Sun
Publication year - 2008
Publication title -
yichuan
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
H-Index - 16
ISSN - 0253-9772
DOI - 10.3724/sp.j.1005.2008.00723
Subject(s) - gene , biology , genetics , regulator , primer (cosmetics) , intron , mutation , microbiology and biotechnology , dna sequencing , transcription (linguistics) , linguistics , chemistry , philosophy , organic chemistry
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.