Association between TGF-α gene BaraH I polymorphism and nonsyndromic cleft lip with or without cleft palate

Abstract

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 Ameriean Caucasians.Therefore,the obiective 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(x2=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(x2=0.36,df=1,P＞0.05).There was no statistically significant between the case with family history and the case without family history(x2=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. Key words: Syndrome; Cleft lip; Oleft lip and palate; Nonsyndromic cleft lip with or without cleft palate; Transforming growth factor α