title: [Analysis of association between COL9A1 gene and idiopathic congenital talipes equinovarus].
abstract: Genotypes of 2 SNPs(rs592121 and rs1135056) within COL9A1 gene in 84 ICTEV nuclear pedigrees were analyzed by restriction fragment length polymorphism and DNA sequencing. Analysis of association between SNP locus and ICTEV was performed using ETDT software. Haplotypes and their frequencies in 84 nuclear pedigrees were established and analyzed by TRANSMIT software. RT-PCR was used to detect the expressions of COL9A1 mRNA in 25 patients with ICTEV. The results showed that rs592121 and rs1135056 loci within COL9A1 gene existed transmission disequilibrium in 84 nuclear pedigrees (P<0.05). Expression of COL9A1 on mRNA levels showed significantly higher in patients with ICTEV than in normal person (t=4.7500, P<0.05) . These results indicate that COL9A1 gene may be important suscept-ble genes of ICTEV.
authors.affiliation: Department of Medical Genetics, China Medical University, Shenyang 110001, China. llying007@sohu.com
authors.forename: Li-Ying
authors.initials: LY
authors.lastname: Liu
authors.forename: Chun-Lian
authors.initials: CL
authors.lastname: Jin
authors.forename: Dong-Hua
authors.initials: DH
authors.lastname: Cao
authors.forename: Ning
authors.initials: N
authors.lastname: Zhao
authors.forename: Chang-Kun
authors.initials: CK
authors.lastname: Lin
authors.forename: Kai-Lai
authors.initials: KL
authors.lastname: Sun
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003025:Clubfoot / Q000235:genetics*; D024081:Collagen Type IX / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: C439970:COL9A1 protein, human; D024081:Collagen Type IX