POSITIONAL CLONING OF THE GENE FOR HEREDITARY BONE DYSPLASIA

遗传性骨发育不良基因的定位克隆

• 批准号: 6115139
• 负责人: JOHN A MARTIGNETTI
• 金额: $ 6.88万
• 依托单位: MOUNT SINAI SCHOOL OF MEDICINE OF CUNY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6115139
• 关键词: clinical research; early diagnosis; genetic disorder; histiocytoma; human subject; molecular cloning; neoplasm /cancer diagnosis; neoplasm /cancer genetics; skeletal disorder; skeletal neoplasm

The overall objectives of the proposed research are to fully characterize the clinical phenotype of this hereditary bone dysplasia and cancer, identify the imaging modalities applicable for the diagnosis and early detection of this bone dysplasia in childhood and malignant fibrous histiocytoma in affected patients, identify the chromosomal localization and gene responsible for this disorder and then to begin defining the role(s) of the gene product in normal cellular functioning and tumorigenic progression.

本研究的总体目标是充分表征这种遗传性骨发育不良和癌症的临床表型，确定适用于儿童期这种骨发育不良和患者恶性纤维组织细胞瘤的诊断和早期检测的成像方式。确定导致这种疾病的染色体定位和基因，然后开始确定基因产物在正常细胞功能和致瘤进展中的作用。