多发性家族性毛发上皮瘤1家系CYLD基因突变的检测

Mutation Analysis of CYLD Gene in a Family with Multiple Familial Trichoepithelioma

目的检测一个中国汉族多发性家族性毛发上皮瘤(multiple familial trichoepithelioma,MFT)家系的CYLD基因突变情况,初步探讨该疾病发生与突变位点的相关性。方法采用聚合酶链反应扩增家系患者和健康个体CYLD基因的全部外显子,并进行DNA测序,以100例无亲缘关系的正常人作为对照。结果该家系2例患者CYLD基因的17号外显子均检测到杂合无义突变c.2272C>T,导致第758位精氨酸被终止密码子替代(R758X)。结论 CYLD基因无义突变c.2272C>T可导致编码蛋白的结构与功能改变,是本家系的发病基础。

Objective To analyze CYLD mutations in a Chinese family with multiple familial trichoepithelioma （MFT） and make a preliminary discussion on the correlation of the occurrence of the disease and the mutation. Methods Blood samples were obtained from a family with MFT. Genomic DNA was extracted and subjected to PCR for the amplification of the entire encoding and splice sites of the CYLD gene followed by bidirectional sequencing. The results were compared with 100 unrelated normal individuals. Results A heterozygous nonsense mutation c. 2272C 〉 T, which results in the premature stop codon TGA at amino acid position 758 （p. R758X） ,was found in exon 17 of the CYLD gene in both of the 2 affected individuals. Conclusion The nonsense mutation c. 2272C 〉 T in the CYLD gene may result in the alteration of the structure and function of the CYLD, it is the pathogenetic basis of MFT in the reported family.