Hox C簇基因与先天性髋脱位的传递不平衡检验研究

摘要

目的探讨Hox C簇基因与先天性髋脱位(congenital dislocation of the hip,CDH)的相关性.方法在胚胎发育基因Hox C簇基因所在染色体区域12q13.3内选取微卫星DNA标记D12S1686,应用聚合酶链反应及变性聚丙烯酰胺凝胶电泳技术对101个核心家系各成员进行基因型检测,并对65个杂合双亲家系进行不平衡检验(Transmission disequilibrium test,TDT).结果在D12S1686标记位点处共检测到16个等位基因,TDT分析结果表明CDH与D12S1686标记住点的各等位基因都不存在传递不平衡(χ2=6.171,P=0.965).结论Hox C簇基因可能与CDH无明显相关.%Objective: To investigate the correlation between the congenital dislocation of the hip (CDH)and Hox genes. Methods: A microsatellite DNA marker D12S1686 was chosen in the region of chromosome 12q13.3 where Hox C genes reside which regulate the embryonic development. Genotypes of all members in 101 CDH families were detected by the techniques of polymerase chain reaction (PCR) and denaturing polyarylamide gel electrophoresis. The transmission disequilibrium test (TDT) was performed to analyze the data of genotypes. Results: There existed 16 alleles at this locus. No transmission disequilibrium was found between CDH and alleles of D12S1686 (χ2=6.171, P=0.965). Conclusions: Hox C genes are not apparently associated with CDH.