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多发性家族性毛发上皮瘤基因定位于9号染色体短臂21区。

The gene for multiple familial trichoepithelioma maps to chromosome 9p21.

作者信息

Harada H, Hashimoto K, Ko M S

机构信息

Department of Dermatology and Syphilology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA.

出版信息

J Invest Dermatol. 1996 Jul;107(1):41-3. doi: 10.1111/1523-1747.ep12297860.

DOI:10.1111/1523-1747.ep12297860
PMID:8752837
Abstract

Multiple familial trichoepithelioma (MFT) is an autosomal dominant skin disease characterized by the presence of many small tumors predominantly on the face. To map the causative gene, we performed linkage analysis with microsatellite markers in three American families. We found a significant linkage of a gene for MFT to chromosome 9p2l. The maximum combined lod score was 3.31 at D9S171 at theta = 0. The disease locus was defined to a 4-cM region between IFNA and D9S126. Because several tumor suppressor genes including p16 and p15 have been mapped to this region, the gene for MFT may also be a tumor suppressor.

摘要

多发性家族性毛发上皮瘤(MFT)是一种常染色体显性遗传性皮肤病,其特征是主要在面部出现许多小肿瘤。为了定位致病基因,我们在美国的三个家族中使用微卫星标记进行了连锁分析。我们发现MFT的一个基因与9号染色体p21区域存在显著连锁。在θ=0时,D9S171处的最大联合对数计分是3.31。疾病基因座被定位在IFNA和D9S126之间4厘摩的区域。由于包括p16和p15在内的几个肿瘤抑制基因已被定位到该区域,MFT的基因可能也是一种肿瘤抑制基因。

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