瘢痕疙瘩高危个体评估与p53基因第72密码子的多态性

Evaluation of high-risk individuals for keloid and polymorphism of p53 gene codon 72

目的:应用p53基因检测试剂盒观察不同的p53基因第72密码子多态性基因型及等位基因的表现频率,判断瘢痕疙瘩高危个体。方法:实验于2003-07/2004-10在南方医科大学细胞生物学实验室完成。采用聚合酶链反应-反向点杂交方法建立试剂盒,检测广东地区45例瘢痕疙瘩患者与60例正常对照者外周静脉血标本的p53基因第72位密码子多态性的基因型(脯氨酸/脯氨酸、脯氨酸/精氨酸、精氨酸/精氨酸)与等位基因(脯氨酸、精氨酸),观察不同分布对预测的意义,参与者均知情同意。结果:①脯氨酸/脯氨酸基因型频率:瘢痕疙瘩组明显高于对照组(20/44,15/25,P<0.036)。②脯氨酸等位基因频率:瘢痕疙瘩组明显高于对照组(56/62,57/48,P<0.034)。③脯氨酸/脯氨酸基因型者患瘢痕疙瘩的风险性:与脯氨酸/精氨酸+精氨酸/精氨酸基因型相比明显增高(比值比=2.400,95%可信区间:1.048～5.498)。结论:p53基因检测试剂盒检测出脯氨酸/脯氨酸基因型者患瘢痕疙瘩的风险性高,可以预测瘢痕疙瘩高危个体。

AIM: To observe the expression frequency of different genotypes and alleles of p53 gene codon 72 polymorphism with p53 gene detection kit which can be used to predicate high-risk individuals for keloid. METHODS: The experiment was conducted in the Laboratory of Cell Biology, Southern Medical University from July 2003 to October 2004. The detection kit was established with polymerase chain reaction-reverse dot blot (PCR-RDB) method to detect the genotype (Proline/Proline, Proline/ Arginine, Arginine/ Arginine) and alleles (Proline , Arginine )of p53 gene codon 72 polymorphism in the peripheral venous blood of 45 patients with keloid and 60 unrelated healthy controls in Guangdong province, to observe the meaning of different distribution on prediction. The informed consent was obtained. RESULTS: Genotype frequency of Proline/Proline among keloid patients was significantly higher than that among healthy controls (20/44,15/25,P< 0.036). ②Allele frequency of proline among keloid patients was significantly higher than that among healthy controls (56/62,57/48,P< 0.034). ③The p53 Proline /Proline genotype increased significantly the risk for developing keloid, compared with the combination of Proline/Arginine and Arginine/Arginine genotypes, with the OR of 2.400 (95%CI: 1.048-5.498). CONCLUSION:The p53 gene detection kit detects that the Proline/Proline genotype patients have the high risk for developing keloid and it can predict high-risk individuals for keloid.