Article
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.
Human molecular genetics - 1 Jan 1996
Brown K A, Janjua A H, Karbani G, Parry G, Noble A, Crockford G, Bishop D T, Newton V E, Markham A F, Mueller R F
Abstract excerpt
Autosomal recessive non-syndromal hearing impairment (NSRD) is genetically heterogeneous. Five loci have been identified to date which map to chromosomes 13 (DFNB1), 11 (DFNB2), 17 (DFNB3), 7 (DFNB4) and 14 (DFBN5). We report definite linkage of NSRD to the locus DFNB1 in a single family of 27 fa...
Topics
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 13
- Connexin 26
- Connexins
- Consanguinity
- Deafness
- Female
- Genes, Recessive
- Genotype
- Humans
- Lod Score
- Male
- Pakistan
- Pedigree
- United Kingdom