Linkage analysis of melanoma

一项与已知黑色素瘤基因没有关联的黑色素瘤家族的协作性连锁研究正在进行中。POWER研究已经选择了最有信息量的家系来寻找额外的黑色素瘤基因座，并对这些样本进行了全基因组扫描的基因分型。已经对基因组扫描进行了分析，结果在黑色素瘤联合会的前几次会议上公布。来自黑色素瘤联盟的其他家庭被添加到第二阶段数据集中，以增加力量。这些2期样本在基因组扫描中显示出连锁证据的区域进行了基因分型。对这些数据的分析在本财年一直在进行，产生了早发性黑色素瘤与基因组1p22上的一个区域相关联的重要证据。本财年发表了一篇介绍皮肤(皮肤)黑色素瘤研究结果的论文。正在收集其他家庭以添加到此资源中。此外，我们正在追踪有趣的证据，表明眼部和皮肤黑色素瘤家族中存在明显的基因座。已经收集了其他有眼部和皮肤黑色素瘤聚集性的家系，基因分型和分析正在进行中。

A collaborative linkage study of melanoma families that are not linked to known melanoma loci is ongoing. Power studies have been performed to pick the most informative families for the search for an additional melanoma locus and genotyping for a genome wide scan has been completed on these samples. Analyses of the genome scan have been performed and results were presented at previous meetings of the Melanoma Consortium. Additional families from the Melanoma Consortium were added to the Phase 2 dataset to increase power. These Phase 2 samples were genotyped in regions showing suggestive evidence of linkage in the genome scan. Analyses of these data have been ongoing in this fiscal year, yielding significant evidence of linkage of early-onset melanoma to one region of the genome at chromosome 1p22. A paper presenting these results for cutaneous (skin) melanoma was published in this fiscal year. Additional families are being collected to add to this resource. In addition, we are following up intriguing evidence of a distinct locus in families with both ocular and skin melanoma. Additional families have been collected that have clustering of ocular and skin melanoma and genotyping and analysis are ongoing.