COL9A1基因与先天性马蹄内翻足的相关性研究

应用限制性片段长度多态性技术结合测序方法,分析了84个先天性马蹄内翻足核心家系COL9A1基因内2个SNP位点rs592121与rs1135056的基因型;应用ETDT软件统计分析各SNP位点基因型与先天性马蹄内翻足的相关性;应用TRANSMIT软件构建单倍型并统计分析单倍型频率是否存在差异; 采用半定量RT-PCR方法检测25例马蹄内翻足患儿肌肉及肌腱组织COL9A1基因mRNA的表达。结果发现rs592121及rs1135056位点在先天性马蹄内翻足中均存在传递不平衡( P < 0. 05)。马蹄内翻足患儿组织中COL9A1基因表达水平高于正常组织(t = 4.7500, P < 0. 05)。提示COL9A1基因可能是先天性马蹄内翻足重要的易感基因。

Analysis of association between COL9A1 gene and idiopathic congenital talipes equinovarus

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.