TGF-α基因TaqⅠ RFLPs与国人非综合征性唇腭裂关系的研究  

The TGF-α gene TaqⅠ polymorphism and non-syndromic cleft lip with or without cleft palate

作　　者：张文广[1] 罗少军[1] 汤少明[1] 梁杰[1] 

机构地区：[1]广东医学院附属医院整形外科研究所,湛江524001

出　　处：《中华整形外科杂志》2004年第3期190-193,共4页Chinese Journal of Plastic Surgery

基　　金：广东省自然科学基金资助项目 (0 1 1771)

摘　　要：目的　探讨国人非综合征性唇腭裂与转化生长因子 α(transforminggrowthfactoralpha ,TGF α)基因多态性的关系。方法　应用聚合酶链反应 限制性片段长度多态性核苷酸分型技术 ,以TaqⅠ限制性内切酶消化PCR扩增产物 ,对 10 7例非综合征性唇裂或唇腭裂 (nonsyndromiccleftlipwithorwithoutcleftpalate,NSCL P)患者、136例正常人的TGF α TaqⅠ等位基因进行分析。结果　NSCL P患者的C2等位基因频率与正常对照组明显增高 ,差异有显著性意义 (P <0 0 5 ) ;有家族史的患者的TGF α TaqⅠ基因型与无家族史患者比较 ,差异有显著性意义 (P <0 0 5 )。结论　TGF α基因多态性与国人的非综合征性唇腭裂的发生有关 ;有先天性唇腭裂家族史可能与TGF α TaqⅠ少见变异体相互关联。Objective To study the association of TGF -α gene TaqⅠ polymorphism and nonsyndromic cleft lip with or without cleft palate(NSCL/P) in Chinese. Methods 107 patients with NSCL/P and 136 healthy controls were examined for TGF -α/TaqⅠ genotypes.TGF -α/TaqⅠ typing was carried out by digesting the locus specific polymerase chain reaction amplified products with alleles specific TaqⅠ restriction enzyme(PCR -RELP). Results The C2 allele frequency of TGF -α/TaqⅠ in patients with NSCL/P(16%) was significantly higher than that in healthy controls(8%).The C2 genotype frequency of TGF -α/TaqⅠ in NSCL/P patients with positive family history(12 ^5%) was significantly higher than that in healthy controls. Conclusion These findings demonstrate the role of TGF -α as a gene of major effects in the development of nonsyndromic cleft lip with or without cleft palate clefts in human.These findings suggest that a family history of clefting may correlate with the TGF -α TaqⅠ rare variation. ;

关 键 词：TGF-α基因 TaqⅠ RFLPS 非综合征性唇腭裂 聚合酶链反应 

分 类 号：R782.2[医药卫生—口腔医学]