中国人群非综合征性唇腭裂与转化生长因子-α基因的相关性研究

ASSOCIATION OF NONSYNDROMIC CLEFT LIP AND PALATE WITH TGF-α GENE POLYMORPHISMS

目的:探讨转化生长因子-α(TGF-α)基因与中国汉族人群非综合征性唇腭裂(NSCLP)的关系。方法:应用聚合酶链式反应(PCR)结合限制性内切酶酶切(RFLP)方法,对57名非综合征性唇腭裂患者和27名健康对照进行TGF-α基因多态性检测。PCR后直接用限制性内切酶酶切,聚丙烯酰胺凝胶电泳检测基因多态性。结果:在57例NSCLP病例组中TGF-α基因C1等位基因频率为76.3%,C2等位基因频率为23.7%,而在27例健康对照者中C1等位基因频率为93.3%,C2等位基因频率为6.7%。TGF-α基因的C1、C2等位基因频率经χ2检验在NSCLP组和对照组之间无显著性差异(χ2=2.609,v=1,P=0.106>0.05)。结论:中国人群非综合征性唇腭裂TGF-α基因中存在TaqⅠ多态性位点,TGF-α/TaqⅠ位点与中国汉族人群非综合征性唇腭裂无关。

Objective：To study the correlation between transforming growth factor-α （TGF-α） gene and nonsyndromic cleft lip with or without cleft palate （NSCLP） in the Chinese Han population.Methods：TGF-α gene was examined by polymerase chain reaction （PCR） and restriction fragment length polymorphism（RFLP） techniques in patients with NSCLP and healthy Chinese subjects. Results： The C1 allele frequency of TGF-α/Taq Ⅰ was 0.763 and the C2 allele frequency was 0.237 in patients with NSCLP. The C1 allele frequency was 0.933, and the C2 allele frequency was 0.067 in healthy controls . There was no statistical significance between NSCLP and healthy controls（x^2=2.609,df=1,P=0.106〉0.05）.Conclusion：The above data demonstrate that there is no association of TGF-α/Taq Ⅰ polymorphism with the development of NSCLP in the Chinese Han population.