Susceptibility gene location of idiopathic congenital talipes equinovarus

Objective To locate the susceptibility gene of human idio pathic congenital talipes equino varus(ICTEV) for further cloning of the gene.Methods A number of candidate genes were proposed as potential susceptibility loci for ICTEV.The genes were predominantly related with lmib develpment,joint turnover and encode structural proteins of the extracellular matrix.Each cand idate gene was targeted using one or mo re intragenic or closely linked microsa tellite marker.Genotypes of 252 members in 84 ICTEV families were analyzed with PCR STR technique.Then transmission disequilibrium test(TDT)was used to test the data of geno types.Results The analysis revealed that twoloci within or closely linked microsate llite marker of IX collagen gene COL9A1(6q12-13)were a ssociated with ICT EV,with a x2 value of 42.15 and 31.18(P<0.05).Conclusion COL 9A 1 gene maybe a candidate susceptive gene of ICTEV.The location of ICTEVs' susceptive genes is in chromo some 6q12-13.