[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.
Zhao
Ning
N
Department of Medical Genetics, China Medical University, Shenyang 110001, China. ningzhao78@hotmail.com
Jin
Chun-Lian
CL
Liu
Li-Ying
LY
Cao
Dong-Hua
DH
Lin
Chang-Kun
CK
Ji
Shi-Jun
SJ
Sun
Kai-Lai
KL
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