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目的研究多发性家族性毛发上皮瘤一家系的CYLD基因突变情况。方法采用聚合酶链反应(PCR)扩增该家系成员的CYLD基因全部编码外显子及其侧翼序列,并对PCR产物进行序列分析,以100例无亲缘关系的正常人作对照。结果该家系所有患者均出现CYLD基因c.2711C.TIF>T(p.P904L)错义突变,家系中健康对照及无亲缘关系的正常人未发现序列改变。结论CYLD基因的错义突变c.2711C.TIF>T(p.P904L)是该家系患者的致病突变。
Objective To investigate the mutation of CYLD gene in a pedigree with multiple familial hair epithelial tumors. Methods All the CYLD gene of this pedigree were amplified by polymerase chain reaction (PCR), encoding exons and their flanking sequences. The PCR products were sequenced and compared to 100 unrelated normal controls. Results All patients in this pedigree had c.2711C.TIF> T (p.P904L) missense mutation of CYLD gene. No sequence change was found in healthy controls and unrelated normals. Conclusion The missense mutation of CYLD gene c.2711C.TIF> T (p.P904L) is a causative mutation in this pedigree.