MOLECULAR ANALYSIS AND CLONING OF THE AARSKOG SYNDROME (FGDY) GENE LOCUS

AARSKOG 综合征 (FGDY) 基因座的分子分析和克隆

• 批准号: 6274626
• 负责人: JEROME L. GORSKI
• 金额: $ 2.15万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-12-01 至 1998-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6274626
• 关键词: congenital oral /facial /cranial defect; congenital reproductive system disorder; family genetics; gene expression; gene mutation; genetic disorder; genetic mapping; human genetic material tag; linkage mapping; molecular cloning; single strand conformation polymorphism

The goal of this project is to elucidate the structure-function correlations of the FGD1 gene, the gene responsible for Faciogenital Dysplasia (FGDY). DNA samples obtained from affected FGDY patients are analyzed by single-strand conformational (SSCP) analysis to identify mutations responsible for the disease.

本项目的目标是阐明结构-功能 FGD 1基因的相关性，该基因负责面部生殖器 发育不良（FGDY）。 从受影响的FGDY患者中获得的DNA样本是 通过单链构象（SSCP）分析来鉴定 导致疾病的突变