Linkage analysis of melanoma

黑色素瘤的连锁分析

• 批准号: 6830354
• 负责人: Joan Ellen Bailey-Wilson
• 金额: --
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6830354
• 关键词: biotechnology; clinical research; eye neoplasms; family genetics; gene expression; genotype; human genetic material tag; human subject; linkage mapping; melanoma; neoplasm /cancer genetics; quantitative trait loci; skin neoplasms

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.

目前正在进行一项与已知黑色素瘤基因座无关的黑色素瘤家族的协作连锁研究。已经进行了功效研究，以挑选信息量最大的家族，用于搜索其他黑色素瘤基因座，并且已经在这些样本上完成了全基因组扫描的基因分型。对基因组扫描进行了分析，并在黑色素瘤协会以前的会议上介绍了结果。将来自黑素瘤联盟的其他家族添加到II期数据集中，以增加把握度。这些II期样本在基因组扫描中显示提示连锁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，得出了早发性黑色素瘤与染色体1p22上基因组一个区域相关的重要证据。本财年发表了一篇介绍皮肤（皮肤）黑色素瘤结果的论文。正在收集更多的家庭来增加这一资源。此外，我们正在跟进一个独特的位点在家庭与眼睛和皮肤黑色素瘤有趣的证据。已收集了其他具有眼部和皮肤黑色素瘤聚集性的家庭，基因分型和分析正在进行中。