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Molecular Genetics Progress of Basal Cell Nevus Syndrome
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- Author:
- No author available
- Journal Title:
- INTERNATIONAL JOURNAL OF DERMATOLOGY AND VENEREOLOGY
- Issue:
- 5
- DOI:
- 10.3760/cma.j.issn.1673-4173.2006.05.015
- Key Word:
- 基底细胞痣综合征;分子遗传学;PTCH
Abstract： 基底细胞痣综合征是一种罕见的常染色体显性遗传病,其致病基因为PTCH,定位于9q22.3-q31,目前共报道突变112个,突变位点与临床表型无关.PTCH基因是一种肿瘤抑制基因,编码的蛋白能诱导细胞凋亡和抑制细胞增殖;PTCH突变激活Hedgehog信号通路,导致细胞无限制的增殖.
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