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.

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正在进行中。已经进行了功率研究，以挑选信息最丰富的家族来寻找额外的黑色素瘤基因座，并且已经对这些样本完成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，并在黑色素瘤联盟之前的会议上公布了结果。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强功效。这些第二阶段样本在基因组扫描中显示出连锁暗示证据的区域进行了基因分型。本财年对这些数据的分析一直在进行，得出了早发黑色素瘤与染色体 1p22 基因组某一区域存在关联的重要证据。本财年发表了一篇论文，介绍了皮肤黑色素瘤的这些结果。正在收集更多家庭以添加到此资源中。此外，我们正在追踪一些有趣的证据，证明患有眼部和皮肤黑色素瘤的家族中有一个独特的基因座。已经收集了更多患有眼部和皮肤黑色素瘤的家族，基因分型和分析正在进行中。