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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 relationship between congenital clubfoot (CCF) and PAX5, PAX6 and TBX3 genes. Methods Two microsatellite DNA markers, D9S319 and D12S378, were selected in the chromosomal regions 9p13 and 12q24 where the genes related to the development and regulation of neural tube and the genes related to the development and control of embryonic limbs were involved. Polymerase chain reaction and autoradiography 123 members (41 children, 82 parents) of 41 congenital clubfoot nuclear pedigrees were genotyped and transmissiondisequilibriumtest (TDT) was performed. Results The total number of parents was 82. Seven alleles were detected at the D9S319 polymorphic loci with a heterozygosity of 59.6%. 49 heterozygous parents entered the TDT test. The analysis showed that there was no transfer of congenital clubfoot and D9S319 genetic marker sites (Χ2 = 6.2097, P> 0.05). Five alleles were detected at the D12S378 polymorphic loci with a heterozygosity of 73.3%. Sixty heterozygous parents entered the TDT test. The analysis showed that the congenital horseshoe Inverted foot and the third allele of the D12S378 genetic marker site were imbalanced (χ2 = 10.5116, P <0.01). Conclusions Congenital clubfoot may not be associated with PAX5 and PAX6 genes. TBX3 may be a susceptibility gene for congenital clubfoot.