@entity8468 ( @entity8468 ) is the most common form of prelingual hereditary @entity393 . To date, 10 autosomal @entity8468 loci (DFNBs) have been identified by genetic mapping; at least three times as many additional loci are expected to be identified. We have performed linkage analyses in two inter-related inbred kindreds, comprised of >50 affecteds, from a single Israeli-Arab village segregating @entity8468 . Genetic mapping by two-point and multi-point linkage analysis in 10 candidate regions identified the segregating gene to be on @entity1 chromosome 13q11 ( @entity3492 ). Haplotype analysis, using eight microsatellite markers spanning 15 cM in 13q11, suggested the segregation of two different mutations in this kindred: affected individuals were homozygotes for either haplotype or compound heterozygotes. The gene for the @entity3492 gap junction protein, recently shown to be mutant in both dominant and @entity2319 , maps to this locus. We identified two distinct mutations, @entity49361 and @entity4701 , both of which likely inactivate @entity3492 . The Gdel35 change likely occurs at a mutational hotspot within the @entity3492 gene. The recombination of marker alleles at the polymorphisms studied in 13q11, at known map distances from the mutations, allowed us to estimate the age of the mutations to be 3-5 generations (75-125 years). This study independently confirms the identity of @entity3492 as an @entity8468 gene. Importantly, we demonstrate that in small populations with high rates of consanguinity, as compared with large outbred populations, recessive mutations may have very recent origin and show allelic diversity.

Two different XXXX mutations in an inbred kindred segregating non-syndromic @entity2319 : implications for genetic studies in isolated populations.

@entity1 :: ('9606', 'Species') :: ['human'] @entity3492 :: ('2706', 'Gene') :: ['DFNB1', 'connexin 26'] @entity49361 :: ('p|SUB|W|77|R', 'ProteinMutation') :: ['W77R'] @entity8468 :: ('OMIM:600791', 'Disease') :: ['NSRD', 'Non-syndromic recessive deafness'] @entity2319 :: ('MESH:D003638', 'Disease') :: ['recessive deafness'] @entity4701 :: ('c|DEL|35|G', 'DNAMutation') :: ['Gdel35'] @entity393 :: ('MESH:D034381', 'Disease') :: ['hearing loss']
@entity3492 :: (2706,Gene) :: ['connexin 26']
