HEREDITY DISORDERS OF CONNECTIVE TISSUE--CLINICAL AND MOLECULAR STUDIES

结缔组织遗传性疾病——临床和分子研究

• 批准号: 5203445
• 负责人: C A FRANCOMANO
• 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/5203445
• 关键词: Marfan syndrome; achondroplasia; child (0-11); collagen disorder; congenital skeletal disorder; connective tissue disorder; gene mutation; genetic disorder; genetics; human genetic material tag; human subject; human tissue; hypochondriasis; linkage mapping; molecular cloning; molecular genetics; molecular pathology

Work at the Dr. Francomano laboratory continues to focus on the human hereditary disorders of connective tissue including the Marfan Syndrome and a number of skeletal dysplasias. Dr. Iain McIntosh is concentrating on the positional cloning of the nail patella gene on human chromosome 9q34 and the studies of type 10 collagen mutations in the Schmid type metaphyseal dysplasia. Analysis of fibrillin mutations in the Marfan syndrome and related disorders are being spear-headed by Dr. Maureen Johnson in collaboration with Dr. Harry Dietz at Johns Hopkins. A major focus of the laboratory continues to be the analysis of FGFR3 mutations in achondroplasia and hypochondroplasia, two of the more common human skeletal dysplasias. These studies are being done under the guidance of Dr. Gary Bellus. Finally, linkage studies are underway on several additional skeletal dysplasias. The chromosomal localization of the Ellis-van Crevald syndrome, pkynodysostosis and type II polysyndactyly have been found over the past year in collaboration with Dr. Mihael Polymeropoulos of the Laboratory of Genetic Disease Research.

Francomano博士实验室的工作继续专注于人类 包括马凡综合征在内的结缔组织遗传性疾病 和一些骨骼发育不良。伊恩·麦金托什博士正在集中精力 人染色体上甲壳蛋白基因的定位克隆 9q34与Schmid型10型胶原突变的研究 干骺端发育不良。马凡氏病原纤维蛋白基因突变分析 Maureen博士正在为综合症和相关疾病打头阵 约翰逊与约翰·霍普金斯大学的哈里·迪茨博士合作。一位少校 实验室的重点仍然是FGFR3突变的分析 在软骨发育不全和软骨发育不良中，两种更常见的人类 骨骼发育不良。这些研究是在以下指导下进行的 加里·贝勒斯博士。最后，正在对以下几个项目进行关联研究 额外的骨骼发育不良。小白鼠的染色体定位 Ellis-van Crevald综合征、肌营养不良症和II型多指畸形 在过去的一年里与迈克尔博士合作发现了 遗传病研究实验室的Polymeropoulos。