| 一家族性毛发上皮瘤家系CYLD1基因突变的研究 |
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| 引用本文： | 凌雁,李俊燕,张莉. 一家族性毛发上皮瘤家系CYLD1基因突变的研究[J]. 中国麻风皮肤病杂志, 2006, 22(12): 980-982 |
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| 作者姓名： | 凌雁 李俊燕 张莉 |
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| 作者单位： | 1. 山东大学山东省立医院皮肤科,济南,250021
2. 山东医学高等专科学校,济南 |
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| 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。
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| 关 键 词： | CYLD1基因 家族性毛发上皮瘤 突变 遗传异质性 |
| 收稿时间： | 2006-03-08 |
| 修稿时间： | 2006-05-31 |
Mutation of cylindromatosis tumor- suppressor gene in a family of multiple familial trichoepithelioma |
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| Ling Yan,Li Junyan,Zhang Li. Mutation of cylindromatosis tumor- suppressor gene in a family of multiple familial trichoepithelioma[J]. China Journal of Leprosy and Skin Diseases, 2006, 22(12): 980-982 |
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| Authors: | Ling Yan Li Junyan Zhang Li |
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| Affiliation: | Dermatology Deputment Shandong Provincial Hospital Jinan, 250021 |
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| Abstract: | 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: Genomic DNA of peripheral blood was extracted.The exon 16,18 of the gene CYLD1 were detected by automated sequence analysis.Results: The mutation of exon 16,18 of the gene CYLD1 in the family with MFT was not identified.Conclusion: Multiple family trichoepithelioma is a genetically heterogeneous disorder. |
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| Keywords: | CYLD1 gene multiple family trichoepithelioma mutation genetic heterogeneity |
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