Association and mutation analysis of GLI3 gene in idiopathic congenital talipes equinovarus / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the association and mutation of GLI3 gene in idiopathic congenital talipes equinovarus(ICTEV).</p><p><b>METHODS</b>(1) Genotype of 2 single nucleotide polymorphism (SNP) in 84 idiopathic congenital talipes equinovarus nuclear pedigree were analyzed by restriction fragment length polymorphism. Association analysis was directed between single SNP locus and ICTEV through ETDT software, respectively.(2) Mutation sites in exon 9,10,11,12 of GLI3 gene were detected in 103 patients with ICTEV by denaturing gradient gel electrophoresis technique.</p><p><b>RESULTS</b>rs929387ls located in exon 14 of GLI3 gene have transmission disequilibrium in 84 nuclear pedigrees (P<0.05), and rs846266 located in exon 4 have no transmission disequilibrium (P>0.05). A synonymous mutation in exon 9 was detected in one patient and his mother.</p><p><b>CONCLUSION</b>There is an association between GLI3 gene and ICTEV, and exons 9,10,11,12 are not its mutation hot spots.</p>