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Alagille (JAG1)

Applications
constitutional
Catalogue Numbers
LPU 012 (10 tests)
LPU 012-S (5 tests)

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.

The quality of the products we have received from Cytocell have been excellent. The FISH probes they provide to us give intense, strong signals and are a pleasure to count. What has really stood out however has been the level of support and assistance provided by Cytocell’s application specialists. The team worked very closely alongside our own during the adoption of this product and spent many hours with us perfecting the technique, going above and beyond what I would expect during the transition period. Source BioScience absolutely demand high quality products and service to be able to deliver our results with confidence, and that is what we have received from Cytocell. Neil Ryan, Laboratory Operations Manager at Source BioScience

References

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

Microscope Images

Alagille (JAG1) magnified

Disclaimer

This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.