先天性马蹄内翻足与PAX5、PAX6和TBX3基因传递不平衡研究  

Transmission disequilibrium test for congenital clubfoot and PAX5、PAX6 and TBX3 genes

作　　者：任舒月[1] 麻宏伟[2] 姜俊[2] 吉士俊[1] 马瑞雪[1] 王大佳[1] 陈秋[1] 

机构地区：[1]中国医科大学附属第二医院小儿外科,沈阳110004 [2]中国医科大学附属第二医院遗传室,沈阳110004

出　　处：《中华小儿外科杂志》2004年第5期444-447,共4页Chinese Journal of Pediatric Surgery

基　　金：国家重点基础研究发展规划资助项目(001CB510301)

摘　　要：目的探讨先天性马蹄内翻足(congenitalclubfoot,CCF)与PAX5、PAX6和TBX3基因是否存在相关性。方法在神经管发育调控相关基因PAX5、PAX6和胚胎肢体发育调控相关基因TBX3所在的染色体区域9p13、12q24内选择2个微卫星DNA标记D9S319和D12S378,应用聚合酶链反应及放射自显影技术,对41个先天性马蹄内翻足核心家系的123名成员(子女41位,父母总数82位)进行基因型分析,并进行传递不平衡检验(transmissiondisequilibriumtest,TDT)。结果共检父母总数82位。在D9S319多态性标记位点上共检测到7个等位基因,杂合度为59.6%,49位杂合子父母进入TDT检验,分析显示先天性马蹄内翻足与D9S319遗传标记位点不存在传递不平衡(χ2=6.2097,P>0.05);在D12S378多态性标记位点上共检测到5个等位基因,杂合度为73.3%,60位杂合子父母进入TDT检验,分析显示先天性马蹄内翻足与D12S378遗传标记位点的第3个等位基因存在传递不平衡(χ2=10.5116,P<0.01)。结论先天性马蹄内翻足可能与PAX5、PAX6基因无关联,TBX3基因可能是先天性马蹄内翻足的易感基因。Objective To investigate the correlation between the congenital clubfoot(CCF) and PAX5?PAX6 and TBX3 genes.Methods Two short tandem repeats (D9S319 and D12S378) in regions of chromosome 9p13 and 12q24 which include PAX5 and PAX6 genes which regulate the embryonic neurotubules development and TBX3 gene which regulates the embryonic limb development were chosen. Genotypes of 123 members in 41 CDH nuclear family trios were analyzed by the polymerase chain reaction (PCR) and radioautograph. Then transmission disequilibrium test (TDT) was used to test the data of the genotypes.Results There was no transmission disequilibrium association between CCF and D9S319 ( χ 2 = 6.2097 , P > 0.05 ); and the transmission disequilibrium was found between CCF and the third allele of D12S378( χ 2 = 10.5116 , P < 0.01 );Conclusions PAX5 and PAX6 genes may have nothing to do with CCF while TBX3 gene may be the susceptibility gene for CCF.

关 键 词：先天性马蹄内翻足 等位基因 相关基因 杂合子 总数 传递不平衡检验 核心家系 显示 

分 类 号：R726.8[医药卫生—儿科]