α转化生长因子基因BamH Ⅰ限制酶切片段长度多态性与广东地区人群非综合征性唇腭裂的关系  

Association between TGF-a gene BamH I polymorphism and nonsyndromic cleft lip with or without cleft palate

作　　者：张文广[1] 梁杰[1] 罗少军[1] 汤少明[1] 

机构地区：[1]广东医学院附属医院整形外科,湛江524005

出　　处：《中华医学美学美容杂志》2008年第2期76-78,共3页Chinese Journal of Medical Aesthetics and Cosmetology

基　　金：广东省自然科学基金资助项目（编号：01-1771）;广东省医学科研基金资助项目（编号：B2005105）

摘　　要：目的探讨中国广东地区人群非综合性唇腭裂与α转化生长因子（transforming growth factor，TGF—α）基因多态性的关系。方法应用聚合酶链式反应-限制酶切片段长度多态性（PCR-RFLP）核苷酸分型技术，以BamHⅠ限制性内切酶消化PCR扩增产物，对107例非综合征性唇裂或唇腭裂（nonsyndromic cleft lip with or without cleft palate，NSCIMP）患者，136例正常人为对照组的TGF-α/BamHⅠ等位基因多态性进行分析。结果NSCIMP患者的Al等位基因频率比正常对照组明显增高，差异有统计学意义（P〈0．05）。NSCIMP患者中，有家族史与无家族史者等位基因频数，差异无统计学意义（P〉0．05）；双侧NSCIMP患者与单侧NSCIMP患者的TGF—α／BamHI基因型频率，差异无统计学意义（P〉0．05）。结论中国广东地区人群NSCIMP患者TGF—α基因中存在BamHⅠ多态性位点，TGF—α基因BamHⅠ位点与中国广东地区人群NSCIMP的发生有关。Objective Nonsyndromic cleft lip with or without cleft palate （NSCL/P） is a common craniofacial birth defect which results in lifelong medical and social consequences. Although Asians have the highest birth prevalence of oral-facial clefts, the majority of gene mapping studies of cleft lip with or without cleft palate（CL/P） have been in European or American Caucasians. Therefore, the objective of this study was to evaluate association between transforming growth factor alpha （TGF-α） gene BamH Ⅰ polymorphism and NSCL/P in Chinese. Methods 107 patients with NSCL/P and 136 healthy controls were examined for TGF-α/BamH Ⅰ genotypes. TGF-α/BamH Ⅰ typing was carried out by digesting the locus specific polymerase chain reaction amplified products with alleles specific BamH Ⅰ restriction enzyme （PCR-RELP）. Resuits A1 allele frequency was 0.06 and A2 allele frequency was 0.94 in the controls, A1 allele frequency was 0. 14 and A2 allele frequency was 0.86 in patients with NSCL/P （ x^2 = 8.27, df = 1, P 〈 0.05 ）. A1 allele frequency was 0.17 and A2 allele frequency was 0.83 in the bilateral cleft lip with or without cleft palate, A1 allele frequency was 0.13 and A2 allele frequency was 0.87 in the unilateral cleft lip with or without cleft palate （ x^2 = 0.36, df = 1, P 〉 0.05 ）. There was no statistically significant between the case with family history and the case without family history （ x^2 = 0.34, df = 1, P 〉 0.05）. Conclusions The above data demonstrate that there is evidence for the association of TGF-α polymorphism with development of NSCL/P in Chinese.

关 键 词：综合征 唇裂 唇腭裂 非综合征性唇裂或唇腭裂 α转化生长因子 

分 类 号：R782.2[医药卫生—口腔医学]