Linkage analysis of melanoma

一项针对与已知黑色素瘤位点无关的黑色素瘤家族的合作连锁研究正在进行中。为了寻找额外的黑色素瘤位点，已经进行了大量的研究，以选择信息最丰富的家族，并对这些样本进行了全基因组扫描的基因分型。基因组扫描的分析已经进行，结果已在黑色素瘤联盟之前的会议上提出。来自黑色素瘤联盟的其他家族被添加到第二阶段数据集中，以增加功率。这些2期样本在基因组扫描中显示连锁的暗示证据的区域进行基因分型。在本财政年度，对这些数据的分析一直在进行中，得出了早发性黑色素瘤与染色体1p22的一个基因组区域有关的重要证据。本财政年度发表了一篇关于皮肤黑色素瘤研究结果的论文。正在收集更多的家庭以增加这一资源。此外，我们正在追踪眼部和皮肤黑色素瘤家族中一个独特位点的有趣证据。已收集到有眼部和皮肤黑色素瘤聚集的其他家族，正在进行基因分型和分析。

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.