中国人群非综合征性唇腭裂TGFA基因TaqⅠ多态性研究

Relation between nonsyndromic cleft lip with or without cleft palate in Chinese and TaqⅠ polymorphism of transforming growth factor-α

目的 探讨转化生长因子 α(TGFA)与中国人群非综合征性唇腭裂 (NS CL P)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 10 3名健康体检者和 12 4名非综合征性唇腭裂患者进行TG FA基因多态性检测。PCR后直接用限制性内切酶酶切检测基因多态性。结果 单侧唇裂伴腭裂和双侧唇裂伴腭裂均与正常对照组有显著性差异。而单侧唇裂和单纯性腭裂与正常对照组无显著性差异。有家族史患者与无家族史患者等位基因频数在统计学上无显著性差异。结论 中国人群非综合征性唇腭裂TGFA基因中存在TaqⅠ多态性位点 ,TGFATaqI位点与中国人群非综合征性唇腭裂相关。

Objective To study the correlation between transforming growth factor α(TGFA)and nonsyndromic cleft lip with or without cleft palate (NS CL/P) in the Chinese.Methods TGFA was examined by polymerase chain reaction (PCR) and restriction fragment length polymorphism(RFLP) techniques in the patients with NS CL/P and healthy Chinese subjects. Results C1 allele frequency was 0.95, and C2 allele frequency was 0.05 in the controls .C1 allele frequency was 0.94 and C2 allele frequency was 0.06 in the unlateral cleft lip(χ 2=0.330,df=1, P >0.05).C1 allele frequency was 0.89 and C2 allele frequency was 0.11 in the cleft palate only(CPO)(χ 2=1.665,df=1, P >0.05).C1 allele frequency was 0.88 and C2 allele frequency was 0.12 in the unlateral cleft lip with or without cleft palate(χ 2=4.300,df=1, P <0.05).C1 allele frequency was 0.84 and C2 allele frequency was 0.16 in the bilateral cleft lip with cleft palate (χ 2=3.900,df=1, P <0.05).There was no statistically significent between the case with family history and the case without family history(χ 2=0.728,df=1, P >0.05).Conclusion The above data demonstrate there is evidence for the association of TGFA polymorphism with development of NS CL/P in the Chinese.