DTDST基因突变与先天性马蹄内翻足的相关性研究

Research of association between DTDST gene mutation and congenital talipes equinovarus.

目的研究骨畸形发育不良硫酸盐转移吲子（DTDST）基因突变与先天性马蹄内翻足的相关性。方法应用RT—PCR和PCR—SSCP的方法对40例先天性马蹄内翻足患儿和10例正常儿童的DTDST基因进行检测，采用χ^2检验对实验数据进行分析。结果27例先天性马蹄内翻足患儿和2例正常儿童的DTDST基因发生突变，经四格表检验，χ^2=5．59，P〈0．05，差异有统计学意义。结论先天性马蹄内翻足的发生可能与DTDST基因突变有关。

Objecitive The study focused on detecting the assoeiation between diastrophic dysplasia sulfate transporter （ DTDST）gene mutation and congenital talipes equinovarus （CTEV）. notheds We checked the diastrophic, dysplasia sulfate transporter （DTDST） genes of 40 children patients with CTEV and 10 normal children making by RT-PCR and PCR-SSCP, and the resulting data was analyzed by Chi-square test. Results the DTDST gene mnta6ons were detected in 27 children patients with CTEV and 2 normal children（ χ^2 = 5.59, P 〈 0.05）. Conlusions This result indicates that the CTEV may be correlated to DTDST gene mutation.