摘要
目的检测1个多发性家族性毛发上皮瘤家系(MFT)CYLD基因突变及CYLD蛋白表达情况。方法提取全部患者及健康对照个体的外周血DNA,采用聚合酶链反应扩增CYLD基因的全部外显子,并进行DNA直接测序;采用抗CYLD抗体免疫组化法来检测毛发上皮瘤肿瘤组织中CYLD蛋白的表达。结果在该家系中未检测到CYLD基因突变;免疫组化显示毛发上皮瘤肿瘤组织中CYLD蛋白表达阳性。结论推测该MFT家系可能具有遗传异质性。
Objective To detect the mutation of CYLD gene and the expression of CYLD protein in a pedigree with MFT. Methods Genomic DNA was extracted from peripheral blood samples obtained from the patients and controls. The mutation of CYLD gene was detected by polymerase chain reaction （PCR）and direct sequen- cing. The expression of CYLD protein was evaluated in trichoepithelioma tumour tissue by immunohistochem- istry with anti-CYLD antibody. Results No mutation in CYLD gene was detected in this family. Immunohis- tochemical staining with anti-CYLD antibody revealed prominent immunoreactivity in the trichoepithelioma tumour tissue. Conclusion This lacking demonstrable CYLD mutations suggests the family have genetic het- erogeneity of MFT possibly.
出处
《中国皮肤性病学杂志》
CAS
北大核心
2013年第11期1099-1102,共4页
The Chinese Journal of Dermatovenereology
