Alagille syndrome (AGS) is an autosomal dominant disorder (with reduced penetrance) characterised by abnormalities of the liver, heart, skeleton, eye and face1,2.
Mutations in the 36kb long human gene Jagged1 (JAG1), located on chromosome 20p12, have been identified as causal for the abnormalities found in patients with AGS3.
This gene encodes a ligand for the Notch 1 transmembrane receptor, which plays a key role in cell fate determination and differentiation3,4. The syndrome has also been noted in a patient with a deletion larger than 3Mb, including JAG1, associated with a translocation t(3;20)(q13.3;p12.2)4.
1. Alagille D et al., J Pediatr 1987;110:195-200
2. OMIM entry♯ 118450: http://www.omim.org/entry/118450
3. Oda T et al., Nature Genet 1997;16:235-42
4. Oda T et al., Human Mutat 2000;16:92
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.