ANALYSIS AND CLONING OF A DEVELOPMENTAL SKIN LOCUS

皮肤发育位点的分析和克隆

• 批准号: 6297172
• 负责人: JEROME L. GORSKI
• 金额: $ 0.02万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 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/6297172
• 关键词: developmental genetics; gene expression; gene mutation; human genetic material tag; molecular cloning; neural crest; pigments; sex linked trait; single strand conformation polymorphism; skin disorder

The goal of this project is to positionally clone and characterize the incontinentia pigmenti type 1 (IP1) gene, an X-linked dominant gene involved in neural crest differentiation. DNA samples obtained from affected IP patients are studied by single-strand conformational (SSCP) analysis to identify mutations responsible for the disease.

本项目的目标是定位克隆和表征色素失禁1型（IP1）基因，一个X连锁的显性基因参与神经嵴分化。 通过单链构象（SSCP）分析研究从受影响的IP患者获得的DNA样品，以鉴定导致疾病的突变。