Mutation Analysis of Selected Lymphoid Immune Disorders

Clinical Center

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Abstract

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.