Positional Cloning of the Gene(s) Responsible for Alagille Syndrome

Status Completed

Clinical Trial Summary

The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach. The first step towards this goal is to define the smallest genomic candidate region for AGS at 20p12 and to begin to identify genes within this region which are, by definition, candidate genes for the disease. In a collaborative effort with clinician-investigators studying the Alagille syndrome, metaphase chromosomes and genomic DNA from affected individuals will be studied for subchromosomal deletions and for mutations in the candidate genes. Characterization of genes involved in Alagille syndrome could provide important insight into the pathophysiology of the disease, the development of normal liver and treatment of this disease. Recently, we and others found that mutations in Jagged1, a Notch1 receptor are responsible for Alagille Syndrome.

Clinical Trial Description

Study Design

N/A

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT00001642
Study type	Observational
Source	National Institutes of Health Clinical Center (CC)
Contact
Status	Completed
Phase	N/A
Start date	May 1997
Completion date	March 2000

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See also
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