中国当代儿科杂志2011，Vol.13Issue(6)：478-481,4.
COL9A1基因在单纯性马蹄内翻足中的表达及其多态性分析
Expression of COL9A1 gene and its polymorphism in children With idiopathic congenital talipes equinovarus
摘要
Abstract
Objective COL9A1 gene is located in the susceptibility region of idiopathic congenital talipes equinovarus (ICTEV) (6q12-13).This study aimed to investigate the expression of the COL9A1 gene and the distribution of single nucleotide polymorphism (SNP) of COL9A1 gene in patients with ICTEV and normal controls.Methods Immunohistochemistry was used to detect the expression of COL9A1 in 25 children with ICTEV and 5 normal controls.The frequencies of genotypes and allele of two SNPs in COL9A1 gene rs35470562 and rs1135056 were investigated by PCRrestriction fragment length polymorphism (PCR-RFLP) and DNA sequencing in 118 patients with ICTEV and 100 normal controls.Results The COL9A1 protein expression was significantly higher in 22 (88％) out of 25 children with ICTEV than normal controls.There were significant differences in the frequencies of genotypes and allele of rs1135056 in COL9A1 gene between the ICTEV and the control groups: the G allele frequency was higher, the frequency of AA genotype was lower, and the frequencies of AG and GG genotypes were higher in ICTEV patients than those in healthy controls (P ＜ 0.05).Conclusions COL9A1 protein is highly expressed in patients with ICTEV and rs1135056, which is located in the coding region of COL9A1 gene, may be associated with the pathogenesis of ICTEV.关键词
单纯性马蹄内翻足/COL9A1基因/单核苷酸多态/儿童Key words
Idiopathic congenital talipes equinovarus/ COL9A1 gene/ Single nucleotide polymorphism/ Child分类
医药卫生引用本文复制引用
刘丽英,金春莲,蒋丽,林长坤..COL9A1基因在单纯性马蹄内翻足中的表达及其多态性分析[J].中国当代儿科杂志,2011,13(6):478-481,4.基金项目
国家重点基础研究发展规划973项目(2001CB510301) （2001CB510301）
国家自然科学基金项目(30471803). （30471803）
