先天性马蹄内翻足与HoxA基因传递不平衡研究  

HoxA Transmission disequilibrium in congenital clubfoot

作　　者：王宁青[1] 马瑞雪[2] 吉士俊[1] 金春莲[1] 

机构地区：[1]中国医科大学盛京医院小儿骨科,沈阳110004 [2]复旦大学附属儿科医院骨科

出　　处：《中华小儿外科杂志》2008年第2期104-107,共4页Chinese Journal of Pediatric Surgery

基　　金：国家重点基础研究发展规划项目（编号：2001CB510301）

摘　　要：目的探讨先天性马蹄内翻足（CCF）与HoxA基因是否存在相关性。方法在胚胎发育调控相关的HoxA基因染色体区域7p14—15内选择微卫星DNA标记D7S516和D7S1808，应用聚合酶链反应及变性聚丙烯酰胺凝胶电泳技术，对54个CCF核心家系的162名成员进行基因型分析，并进行传递不平衡检验（TDT）。结果在D7S516位点上共检测到7个等位基因，TDT结果显示CCF与D7S516位点存在传递不平衡（X^2=20.3864，P〈0.01）。D7S1808位点上共检测到7个等位基因，但TDT结果显示CCF与D7S1808位点不存在传递不平衡（X^2=11．3196，P〉0.05）。结论人类CCF与HoxA基因有相关性，HoxA基因可能是CCF的另一个易感基因。Objective To assess the relationship between the congenital clubfoot and HoxA gene. Methods Two microsatellite DNA markers D7S516 and D7S1808 were chosen in the region of chromosome 7p 14-15 where HoxA gene is located. HOXA regulates the embryonic limb development. The genotypes of 162 members in 54 CCF nuclear family trios were analyzed by polymerase chain reaction （PCR） and denaturing polyacrylamide gel electrophoresis. The transmission disequilibrium （TDT） was then tested. Results There were 7 alleles at D7S516 microsatellite marker in the Chinese population. There was transmission disequilibrium at the alleles of D7S516 microsatellite marker（X^2 = 20. 3864,P〈0.01 ,suggesting that HoxA may be another candidate gene for CCF. There were 7 alleles at D7S1808 microsatellite marker in the Chinese population. There wasn＇t any transmission disequilibrium at the alleles of D7S1808 microsatellite marker（X^2 = 11. 3196, P〈0. 05）. Conclusions HoxA may be anothor candidate gene for CCF disease

关 键 词：畸形足 先天性 传递不平衡检验 HoxA基因 

分 类 号：R726.8[医药卫生—儿科]