ANALYSIS OF THE P16 GENE (CDKN2) AS A CANDIDATE FOR THE CHROMOSOME 9P MELANOMA SUSCEPTIBILITY LOCUS
ANALYSIS OF THE P16 GENE (CDKN2) AS A CANDIDATE FOR THE CHROMOSOME 9P MELANOMA SUSCEPTIBILITY LOCUS
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DOI：
10.1038/ng0994-22
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发表时间：
1994-09-01
期刊：
影响因子：
30.8
通讯作者：
CANNONALBRIGHT, LA
中科院分区：
文献类型：
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作者：
KAMB, A;SHATTUCKEIDENS, D;CANNONALBRIGHT, LA
家族性黑色素瘤（MLM）的一个基因座已被定位在染色体9p21上与推定的细胞周期调节因子p16（INK4）（CDKN 2）MTS 1基因相同的区间内。该基因从包括黑色素瘤在内的许多肿瘤细胞系中同源缺失，表明CDKN 2是MLM的良好候选者。我们分析了CDKN2编码序列的家系分离9p黑色素瘤的易感性和38个其他黑色素瘤的家庭。仅在两个家族中鉴定出潜在的易感突变。没有证据表明CDKN2杂合性缺失在黑色素瘤易感个体的生殖系中存在。检测到的潜在易感突变的低频率表明，大多数突变都在CDKN 2编码序列之外，或者CDKN 2不是MLM。
A locus for familial melanoma, MLM, has been mapped within the same interval on chromosome 9p21 as the gene for a putative cell cycle regulator, p16(INK4)(CDKN2) MTS1. This gene is homozygously deleted from many tumour cell lines including melanomas, suggesting that CDKN2 is a good candidate for MLM. We have analysed CDKN2 coding sequences in pedigrees segregating 9p melanoma susceptibility and 38 other melanoma-prone families. in only two families were potential predisposing mutations identified. No evidence was found for heterozygous deletions of CDKN2 in the germline of melanoma-prone individuals. The low frequency of potential predisposing mutations detected suggests that either the majority of mutations fall outside the CDKN2 coding sequence or that CDKN2 is not MLM.