Analysis of association between 5' HOXD gene and idiopathic congenital talipes equinovarus / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>Four single nucleotide polymorphisms (SNP) in HOXD10, HOXD12 and HOXD13 genes were chosen to investigate SNP and haplotypes distribution in idiopathic congenital talipes equinovarus nuclear pedigrees.</p><p><b>METHODS</b>Genotypes of 4 SNPs in 84 idiopathic congenital talipes equinovarus nuclear pedigrees were analyzed by restriction fragment length polymorphism and DNA sequencing. Analysis of association between SNP locus and idiopathic congenital talipes equinovarus was performed using ETDT software. Haplotypes and their frequencies in 84 nuclear pedigrees were established and analyzed by TRANSMIT software.</p><p><b>RESULTS</b>rs847151 polymorphism was not detected; the rs847154 located in 5' flanking sequence of HOXD12 gene and the rs13392701 located in exon 1 of HOXD13 gene were noted to have transmission disequilibrium in 84 nuclear pedigrees (P < 0.05).</p><p><b>CONCLUSION</b>rs847154 located in 5' flanking sequence of HOXD12 gene and rs13392701 located in exon 1 of HOXD13 gene are associated with idiopathic congenital talipes equinovarus; HOXD12 andHOXD13 are important susceptible genes of idiopathic congenital talipes equinovarus.</p>