摘要
目的 :探讨先天性髋脱位 (CDH)与Hox基因是否存在相关性。方法 :在Hox基因A ,B ,C和D簇所在的染色体区域 7P14 15,17q2 1,12q13和 2 q3 1内选择 4个微卫星DNA标记D7S180 8,D17S182 0 ,D12S1686和Hox4EP ,应用PCR及变性聚丙烯酰胺凝胶电泳技术 ,对 10 1个先天性髋脱位核心家系的 3 0 3名成员进行基因型分析 ,并进行传递不平衡检验 (TDT)。结果 :在D12S1686多态性标记位点上检测到 16个等位基因 ,TDT分析先天性髋脱位与D12S1686遗传标记位点不存在传递不平衡 (χ2 =6.171,P =0 .965) ;在D7S180 8多态性标记位点上检测到 10个等位基因 ,与D7S180 8遗传标记位点的第 7个等位基因存在传递不平衡 (χ2 =6.0 45,P =0 .0 14 ) ;在D17S182 0多态性标记位点上检测到 12个等位基因 ,与D17S182 0遗传标记位点的第 4个等位基因存在传递不平衡 (χ2 =6.0 2 5,P =0 .0 14 ) ;在Hox4EP多态性标记位点上检测到 16个等位基因 ,与Hox4EP遗传标记位点的第 4个等位基因存在传递不平衡 (χ2 =6.461,P =0 .0 11)。结论 :先天性髋脱位与Hox基因A ,B和D簇可能有关联 ,HoxA 。
Objective: To investigate the correlationbe tween congenital dislocation of hip(CDH) and Hox gene. Methods: Four short tandem repeats(STRs), D7S1808, D17S1820, D12S1686, and Hox4EP, resp ectively in regions of chromosome 7P14-15, 17q21, 12q13, and 2q31 of Hox gene f amilys A,B,C,D clusters, were included. Genotypes of 303 members in 101 CDH fa milies were analyzed with polymerase chain reaction(PCR) and denaturing polyacry lamide gel electrophoresis. Then transmission disequilibrium test(TDT) was usedto test the data of genotypes. Results: No transmission disequ ilibrium association was found between CDH and D12S1686(χ 2=6.171,P=0.965 ). Transmission disequilibrium was found between CDH and the seventh allele o f D7S1808(χ 2=6.045,P=0.014),CDH and the fourth allele of D17S1820 ( χ 2=6.025,P=0.014), CDH and the fourth allele of Hox4EP(χ 2=6.461,P =0.011).Conclusion: Hox gene familys A,B, D clusters ma y be susceptibility genes of CDH.
出处
《中国医科大学学报》
CAS
CSCD
北大核心
2004年第1期6-8,共3页
Journal of China Medical University
基金
国家自然科学基金资助项目 ( 39970 76 2)
辽宁省自然科学基金资助项目 ( 972 2 4 8)
关键词
先天性髋脱位
传递不平衡检验
HOX基因
congenital dislocation of the hip
transmissio n disequilibrium test
Hox gene
