COL9A1基因与先天性马蹄内翻足的相关性研究.pdf

HEREDITAS (Beijing) 2007 4 , 29(4): 427432 ISSN 0253-9772 DOI: 10.1360/yc-007-0427 COL9A1 , , , , , , 110001 : ,84 COL9A1 2 SNP rs592121 rs1135056 ;ETDT SNP ;TRANSMIT ; RT-PCR 25 COL9A1 mRNA rs592121 rs1135056 ( P 0. 05) COL9A1 (t 4.7500, P 0. 05) COL9A1 : ; IX ; ; Analysis of association between COL9A1 gene and idiopathic con- genital talipes equinovarus 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 Abstract: Genotypes of 2 SNPs(rs592121 and rs1135056) within COL9A1 gene in 84 ICTEV nuclear pedigrees were ana- lyzed 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 (P0.05). 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. Keywords: idiopathic congenital talipes equinovarus(ICTEV); IX collagen; single nucleotide polymorphism; reverse tran- scriptase-polymerase chain reaction (idiopathic congenital talipes , [1], equinovarus, ICTEV) 1‰ ~ 8‰, , , ,