摘要
目的:收集山东一多发性家族性毛发上皮瘤家系,通过直接测序法检测该家系圆柱瘤病肿瘤抑制基因(cylindromatosis tumor-suppressor gene,CYLD1)第16、18号外显子是否存在突变。方法:提取家系成员外周血基因组DNA,利用PCR特异性扩增、直接测序方法对CYLD1基因的第16、18号外显子进行检测。结果:本家系成员的CYLD1基因第16、18号外显子未发现突变。结论:未发现本家族性毛发上皮瘤家系CYLD1基因第16、18号外显子存在突变,提示家族性毛发上皮瘤具有遗传异质性。
Objective： To identify mutations in exon 16,18 of the gene CYLD1 in a Chinese family with multiple familial trichoepithelioma （MFT）in Shandong Province .Methods Genormic DNA of peripheral blood was extracted. The exon 16,18 of the gene CYLD1 were detected by antomted sequence analysis.Results： The mntation of exon 16,18 of the gene CYLD1 in the family with MFT was not ideotified. Conclusion Multiple fmmily trichoepithelioma is a genetically heterogeneous disorder.
出处
《中国麻风皮肤病杂志》
2006年第12期980-982,共3页
China Journal of Leprosy and Skin Diseases
