ASSIGNMENT OF A LOCUS FOR FAMILIAL MELANOMA, MLM, TO CHROMOSOME-9P13-P22
ASSIGNMENT OF A LOCUS FOR FAMILIAL MELANOMA, MLM, TO CHROMOSOME-9P13-P22
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DOI：
10.1126/science.1439824
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发表时间：
1992-11-13
期刊：
影响因子：
56.9
通讯作者：
SKOLNICK, MH
中科院分区：
文献类型：
--
作者：
CANNONALBRIGHT, LA;GOLDGAR, DE;SKOLNICK, MH
对10名犹他州亲属和1名德克萨斯州亲属的多例皮肤恶性黑色素瘤（CMM）的连锁分析提供了证据，表明家族性黑色素瘤易感性的基因座位于染色体区域9 p13-p22。所分析的遗传标记位于染色体9 p21上的候选区域，该区域先前与黑色素瘤肿瘤中纯合缺失的存在以及具有8个独立黑色素瘤的个体中种系缺失的存在有关。在家族性黑色素瘤易感基因座（MLM）和两个短串联重复序列标记D9 S126和干扰素-α（IFNA）基因之间进行多点连锁分析，这两个标记位于黑色素瘤肿瘤体细胞丢失区域。一项纳入部分渗透显性黑色素瘤易感基因座的分析将MLM置于IFNA和D9 S126附近，最大位置评分为12.71。因此，在黑色素瘤肿瘤中9 p21上经常缺失的区域可能包含在家族性黑色素瘤易感性中起关键作用的基因座。
Linkage analysis of ten Utah kindreds and one Texas kindred with multiple cases of cutaneous malignant melanoma (CMM) provided evidence that a locus for familial melanoma susceptibility is in the chromosomal region 9p13-p22. The genetic markers analyzed reside in a candidate region on chromosome 9p21, previously implicated by the presence of homozygous deletions in melanoma tumors and by the presence of a germline deletion in an individual with eight independent melanomas. Multipoint linkage analysis was performed between the familial melanoma susceptibility locus (MLM) and two short tandem repeat markers, D9S126 and the interferon-alpha (IFNA) gene, which reside in the region of somatic loss in melanoma tumors. An analysis incorporating a partially penetrant dominant melanoma susceptibility locus places MLM near IFNA and D9S126 with a maximum location score of 12.71. Therefore, the region frequently deleted in melanoma tumors on 9p21 presumably contains a locus that plays a critical role in predisposition to familial melanoma.