先天性马蹄内翻足与HoxD基因传递连锁不平衡研究

Transmission test for linkage disequilibrium in Hox D gene and congenital clubfoot

目的 研究先天性马蹄内翻足是否与HoxD基因存在关联。方法 病例来源于中国医科大学附属二院小儿矫形外科。 65例患儿均有典型的临床表现 ,经X线片及手术确诊。取外周静脉血 3ml,EDTA抗凝 ,常规酚 /氯仿法提取基因组DNA。在研究对象中将CCF家系成员资料不全和不能做基因分型者排除共 2 3例 ,入组做基因分型的核心家系共 42例。在胚胎后肢发育调控相关基因 Hox基因D簇内选择微卫星DNA标记Hox4Ep ,应用聚合酶链反应技术扩增微卫星片断 ,聚丙烯酰胺凝胶电泳对 32个CCF核心家系的 96名成员进行基因型分析 ,并进行传递连锁不平衡检验 (trans missiondisequilibriumtest,TDT)。 结果 Hox4Ep微卫星位点存在 1 2个等位基因。等位基因 1 2存在传递不平衡 (χ2 =4.61 4 ,P <0 .0 5)。结论 人类CCF与HoxD基因位点有关 。

Objective To investigate the possible association between congenital clubfoot (CCF) and a genetic marker in HoxD gene. Methods The diagnosis of 65 children of CCF was confirmed by clinical symptom,X-ray film and operation.The microsatellite marker Hox4Ep of Hox gene family's D cluster which regulates the embryonic hind limb developm ent was chosen. Genotypes of 96 members in 32 CCF families were analyzed by amp lifying the fragment using polymerase chain reaction (PCR). Then transmission disequilibrium test (TDT) was used to test the data of genotypes. Results There were 12 alleles at this microsatellite mark er. The transmission disequilibrium was found at the twelfth allele (χ 2= 4 .614 , P < 0.05 ). Conclusions Human CCF is associated with Hox gene D clust er. HoxD gene may be a susceptible gene of CCF.