Article
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.
Annales de genetique - 1 Jan 1990
Kaplan J, Guasconi G, Bonneau D, Melki J, Briard M L, Munnich A, Dufier J L, Frézal J
Abstract excerpt
Usher syndrome is an autosomal recessive disease associating congenital sensorineural deafness and retinitis pigmentosa. Two clinical forms have been recognized, namely a) congenital and severe (type I) and b) later and moderate (type II). A linkage of the D1S81 probe (THH 33) with the gene for type II has been recently demonstrated by Kimberling et al. 1990. Here, a panel of 29 individuals from 6 kindreds with...
Topics
- Blotting, Southern
- Child
- Chromosomes, Human, Pair 1
- DNA Probes
- Female
- Genes, Recessive
- Genetic Markers
- Hearing Loss, Bilateral
- Hearing Loss, Sensorineural
- Humans
- Lod Score