Exclusion of Usher syndrome gene from much of chromosome 4.

Abstract

Usher syndrome is an autosomal recessive disease characterized by dual sensory impairments; affected individuals are born with a sensorineural hearing loss and ultimately lose their sight as retinitis pigmentosa develops. Conventional protein markers previously tested in a Louisiana Acadian kindred suggested tentative linkage to vitamin D-binding protein on chromosome 4. DNA linkage studies do not confirm this linkage relationship and exclude much of chromosome 4 as the site of the Usher syndrome gene in these families.

• Authors: R J Smith, J D Holcomb, S P Daiger, C T Caskey, M Z Pelias, B R Alford, D D Fontenot, J F Hejtmancik
• Journal: Cytogenetics and cell genetics (Cytogenet Cell Genet) Vol. 50 Issue 2-3 Pg. 102-6 ( 1989) ISSN: 0301-0171 [Print] Switzerland
• PMID: 2776474 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Genetic Markers

Topics

• Blindness (genetics)
• Chromosomes, Human, Pair 4
• Deafness (genetics)
• Female
• Genes, Recessive
• Genetic Linkage
• Genetic Markers
• Humans
• Male
• Pedigree
• Syndrome