Exp Dermatol. 2010 Aug;19(8):e333-5. doi: 10.1111/j.1600-0625.2009.01048.x.
We have examined alterations in the cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase 4 (CDK4), major melanoma predisposing genes, in a Spanish melanoma-prone population comprising 61 patients from 45 families. Using an extensive genetic analysis of these genes, including sequence analysis and multiplex ligation-dependent probe amplification, we have found four different CDKN2A alterations in cases from seven melanoma kindred. Three of them are CDKN2A mutations previously described in the Mediterranean population (p.G101W, p.V59G and c.358delG) in addition to an undescribed deletion (p. M54del) which has been detected in a melanoma kindred. This codon deletion affects an essential residue in the interaction of p16INK4A with cdk6 and has not been reported in melanoma patients and other cancers.
我们研究了西班牙一个黑色素瘤易感人群中的细胞周期蛋白依赖性激酶抑制剂 2A（CDKN2A）和细胞周期蛋白依赖性激酶 4（CDK4）的改变，这两个基因是主要的黑色素瘤易感基因，人群包括来自 45 个家族的 61 名患者。通过对这些基因进行广泛的遗传分析，包括序列分析和多重连接依赖性探针扩增，我们在 7 个黑色素瘤家族的病例中发现了 4 种不同的 CDKN2A 改变。其中 3 种是以前在地中海人群中描述过的 CDKN2A 突变（p.G101W、p.V59G 和 c.358delG），此外还发现了一个未描述的缺失（p.M54del），该缺失存在于一个黑色素瘤家族中。该密码子缺失影响了 p16INK4A 与 CDK6 相互作用的关键残基，在黑色素瘤患者和其他癌症中尚未报道。
