[Association study between mutations of transcription regulator sequences of COL1A1 gene and idiopathic con-genital talipes equinovarus].
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.
Department of Medical Genetics, China Medical University, Shenyang 110001, China. ningzhao78@hotmail.com
Ning
N
Zhao
Chun-Lian
CL
Jin
Li-Ying
LY
Liu
Dong-Hua
DH
Cao
Chang-Kun
CK
Lin
Shi-Jun
SJ
Ji
Kai-Lai
KL
Sun
D003025:Clubfoot / Q000235:genetics*; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain