痣样基底细胞癌综合征一例PTCH1基因突变研究

目的：检测1例痣样基底细胞癌综合征(Gorlin综合征)患者的PTCH1基因突变。方法：收集患者临床资料，提取患者及其3位相关亲属（患者的父母及妹妹）外周血DNA，采用PCR扩增PTCH1基因编码区的全部外显子及其侧翼序列。同时以200例无关健康者外周血基因组DNA作对照。 结果：患者的PTCH1基因发生c.590G>A杂合突变，导致氨基酸发生p.W197X改变。患者的父母、妹妹及200例健康对照未见该基因突变位点。结论：PTCH1基因p.W197X突变很可能是本例患者Gorlin综合征的病因。

PTCH1 gene mutation and nevoid basal cell carcinoma syndrome:a case report

Objective:To detect the PTCH1 gene mutation in a patient with nevoid basal cell carcinoma syndrome. Methods:Peripheral blood samples were collected from the patient, her family members, and 200 unrelated healthy controls. DNA was extracted from the blood samples, and subjected to PCR for the amplifi-cation of 23 encoding exons and their franking sequences of the PTCH1 gene, followed by DNA sequencing. Results:There was a heterozygous nonsense mutation of c. 590G>A in PTCH1 gene of the patient, resulting in the change of amino acid of p.W197X. This mutation was not detected in any of the family members and the 200 unrelated healthy controls. Conclusion:Heterozygous mutation p.W197X may be the underlying cause of the clinical phenotype of nevoid basal cell carcinoma syndrome in this patient.