广东汉族人非综合征唇腭裂与转化生长因子α基因多态性的关系

Relationship between tumor growth factor alpha gene polymorphism and nonsyndromic cleft lip with or without cleft palate in Han population of Guangdong Province

目的探讨广东汉族人非综合征性唇腭裂与转化生长因子α(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107例非综合征性唇裂或唇腭裂(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,差异有非常显著性意义(P≤0.01);双侧CL/P患者的TGF-α/TaqI基因型与单侧CL/P患者差异有显著性意义(P<0.05);NSCL/P患者中,其母有感染服药史者与其母无感染服药史者比较,TGF-α/TaqI等位基因频率差异无显著性意义(P>0.05)。结论TGF-α基因多态性与广东汉族人的非综合征性唇腭裂的发生有关;广东汉族人唇腭裂的严重程度可能与TGF-α/TaqI少见变异体相互关联。

AIM: To study the relation between transforming growth factor alpha (TGF α) gene polymorphism and nonsyndromic cleft lip with or without cleft palate(NSCL/P) in Han population of Guangdong province. METHODS: Totally 107 patients with NSL/P and 136 healthy controls were examined for TGF α/TaqI genotypes.TGF α/TaqI typing was carried out by digesting the locus specific employerase chain reaction amplified products with alleles specific TaqI restriction enzyme(PCR RELP).RESULTS:The C2 allele frequency in patients with NSCL/P was significantly higher than that in normal control group. The difference was significant (P≤0.01). The difference between genotype frequency of TGF α/TaqI in bilateral CL/P patients and in mono lateral CL/P patients was significant (P< 0.05). No significantly difference in the frequency of the TGF α/TaqI allele among cases with maternal infection during pregnancy compared with the other cases without maternal infection during pregnancy(P >0.05). CONCLUSION: The gene polymorphism of TGF αis related with the occurrence of nonsyndromic cleft lip in Han People of Guangdong province. The severity of clefts may be correlated with the TGF α/TaqI rare variant.