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合作联系研究正在进行中。已经进行了功率研究，以选择最有用的家族，以寻找额外的黑色素瘤基因座，并且在这些样品上完成了基因组广泛扫描的基因分型。已经进行了基因组扫描的分析，并在黑色素瘤联盟的先前会议上提出了结果。将来自黑色素瘤联盟的其他家庭添加到2阶段数据集中以增加功率。在基因组扫描中显示出暗示性的连锁的区域中，对这些阶段2样品进行了基因分型。在这个财政年度，对这些数据的分析一直在进行中，从而提供了早期发作黑色素瘤与1p22染色体上基因组一个区域联系的重要证据。本财政年度发表了一篇有关皮肤（皮肤）黑色素瘤结果的论文。正在收集其他家庭以添加此资源。此外，我们正在跟踪眼部和皮肤黑色素瘤家族中一个独特基因座的有趣证据。已经收集了更多的家庭，这些家庭正在持续进行眼科和皮肤黑色素瘤以及基因分型和分析。