Mutation Analysis of Selected Lymphoid Immune Disorders

特定淋巴免疫性疾病的突变分析

• 批准号: 6431867
• 负责人: thomas a fleisher
• 金额: --
• 依托单位: CLINICAL CENTER
• 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/6431867
• 关键词: CD95 molecule; diagnosis design /evaluation; gene mutation; genetic disorder; genetic disorder diagnosis; human genetic material tag; nucleic acid sequence; restriction fragment length polymorphism; severe combined immunodeficiency

This project represents an extension of a long-standing series of collaborative studies performed to better characterize and understand immune deficiency. Mutations involving the genes for the common gamma chain (X-SCID) and fas (ALPS) are being evaluated using dideoxyfinger printing (ddF) and direct gene sequencing. These studies have continued to identify a number of new mutations and these data will be submitted for publication. In addition, this project has provided valuable experience in the critical approaches to molecular diagnosis of genetic disorders. This information together with the procedure manuals, are being used to assist with the NIH CLIA resource program.

该项目代表了一个长期的一系列合作研究的延伸，以更好地表征和了解免疫缺陷。涉及共同γ链（X-SCID）和Fas（ALPS）基因的突变正在使用双脱氧指纹（ddF）和直接基因测序进行评估。这些研究继续确定了一些新的突变，这些数据将提交出版。此外，该项目还为遗传性疾病的分子诊断提供了宝贵的经验。这些信息与程序手册一起被用于协助NIH CLIA资源计划。