转化生长因子-α基因多态性与山东汉族人非综合征性唇腭裂的关系

目的 研究转化生长因子-α（TGF-α）基因多态性与山东汉族人非综合征性唇腭裂的关系。方法 应用多聚酶链反应（PCR）结合限制性酶切方法，对98例非综合征性唇腭裂患者与101例正常人进行TGF-α基因突变检测分析。结果 非综合征性唇腭裂患者的C2等位基因频率比正常对照组明显增高，有显著性差异（P<0.05）；有家族
史的患者，其TGF-α基因型与无家族史患者比较有显著性差异（P<0.05）。结论 TGF-α基因的突变与山东汉族人非综合征性唇腭裂的发生有相关性, 对有家族史的患者的影响可能更明显。

Relationship between Transforming Growth Factor-α Gene Polymorphism and Non-syndromic Cleft Lip with Cleft Palate

OBJECTIVE: To study the association of TGF-alpha gene polymorphism and non-syndromic cleft lip with cleft palate in Shandong province. METHODS: Polymerase chain reaction combined with restrict enzyme digestion was used to detect the target gene variation in 98 patients with non-syndromic cleft lip with cleft palate and 101 healthy controls. RESULTS: The C2 allele frequency in patients with non-syndromic cleft lip with cleft palate was significantly higher than that in healthy controls. The genotype frequency in patients with positive family history was significantly higher than that without positive family history. CONCLUSION: TGF-alpha gene polymorphism is closely associated with non-syndromic cleft lip with cleft palate in Shandong, especially in patients with positive family history.