43例广东汉族单纯性腭裂患者转化生长因子α基因多态性的研究

目的探讨广东汉族单纯性腭裂患者转化生长因子α（TGF-α）基因多态性。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ToqI限制性内切酶消化PCR扩增产物，对43例单纯性腭裂（CPO）患者、68例正常人的TGF-α／ToqI等位基因进行分析。结果单纯性腭裂患者的C2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）。单纯性完全腭裂患者的TGF-α/ToqI基因型与单纯性部分腭裂患者差异无统计学意义（P〉0．05）。结论TGF-α基因多态性与广东汉族人的单纯性腭裂的发生有关。

Research in the Transforming Growth Factor-Alpha Gene Polymorphism of 43 Han People of Simple Cleft Palate in Guangdong Province

Objective To study the Gene polymorphism of transforming growth factor-alpha （TGF-α） in the cleft palate only （CPO） patients. Methods Totally 43 patients with CPO and 68 healthy controls were examined for TGF-α/Taq I genotypes. TGF-α/Toq I typing was carried out by digesting the locus specific polymerase chain reaction amplified products with alleles specific Tat/I restriction enzyme （PCR-RELP）. Results The C2 allele frequency in patients with CPO was significant higher than that in normal control group. The difference was significant （ P 〈 0.05 ）. No significantly difference in the genotype frequency of TGF-α/Taq I among cases with complete cleft palate compared with the other partial cleft palate cases （P 〉 0.05 ）. Conclusion The gene pelymorphism of TGF-α is related with the occurrence of nonsyndromic cleft palate only in Han People of Guangdong province.