Research Of Association Between Diastrophic Dysplasia Sulfate Transporter(DTDST) Gene Mutation And Congenital Talipes Equinovarus (CTEV)

Objective : Congenital talipes equinovarus(CTEV) is a kind of congenital malformation in children's department of orthopaedics with an estimated incidence of 1~3/1,000 live births. The incidence is different in different human race and the ratio of male to female is 2 to 1. However, we don't know what the aetiology of CTEV is now.Diastrophic dysplasia sulfate transporter(DTDST) is a kind of transmembrane sulfate transporter and its gene can control the growth of skeleton. The normal DTDST gene is benefit to the growth of skeleton,but it is bad to the growth of skeleton when the DTDST gene get mutation. The study focused on detecting the mutation of DTDST gene between children patients of CTEV and normal children. From the analytic result, we could know the association between DTDST gene mutation and CTEV.Methods: Forty children patients of CTEV were assigned to experimental group and ten normol children as control group. Firstly, we could get their dysplasia sulfate transporter gene by RT-PCR respectively and detected these genes by making use of the technology of PCR-SSCP. Then, we would make gene sequencing to the abnormal DTDST gene that we detected. At last, we must analyze the research's datas by Chi-square test.Results: We could get the dysplasia sulfate transporter genes of all the fifty examles by making use of the technology of RT-PCR. These examples'PCR products of DTDST gene been detected, we found that the DTDST gene mutation were detected in 27 children patients of CTEV and 2 normal children. By gene sequencing, we knew that the mutation was the 862 C→T(R279W). We calculated these experiment's datas and knew X~2=5.59, P<0.05 by making use of Chi-square test.Conclusion: We could reach the conclusion that the congenital talipes equinovarus was correlated to the diastrophic dysplasia sulfate transporter gene mutation by analysing the experiment datas making use of Chi-square test.