Liu Li-Ying, Jin Chun-Lian, Cao Dong-Hua, Zhao Ning, Lin Chang-Kun, Sun Kai-Lai
Department of Medical Genetics, China Medical University, Shenyang 110001, China.
Yi Chuan. 2007 Apr;29(4):427-32. doi: 10.1360/yc-007-0427.
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.
采用限制性片段长度多态性和DNA测序技术分析了84个先天性马蹄内翻足核心家系中COL9A1基因内2个单核苷酸多态性位点（rs592121和rs1135056）的基因型。使用ETDT软件对单核苷酸多态性位点与先天性马蹄内翻足之间的关联性进行分析。采用TRANSMIT软件确定并分析84个核心家系中的单倍型及其频率。运用逆转录聚合酶链反应（RT-PCR）检测25例先天性马蹄内翻足患者中COL9A1 mRNA的表达情况。结果显示，COL9A1基因内的rs592121和rs1135056位点在84个核心家系中存在传递不平衡（P<0.05）。先天性马蹄内翻足患者中COL9A1基因mRNA水平的表达显著高于正常人（t=4.7500，P<0.05）。这些结果表明，COL9A1基因可能是先天性马蹄内翻足的重要易感基因。
