Journal of Medical Genetics · 1997 · 57 citations · 19 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsGene MappingGenetic DisordersGenetic MappingGenetic SyndromesHearing ImpairmentHearing LossAutosomal Recessive InheritanceGene Mapping In PedigreesHaplotype MappingLocus HeterogeneityLod Score AnalysisMultipoint Linkage AnalysisNon-syndromic Hearing LossSyndromic Hearing Loss
Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is genetically heterogeneous and it has been estimated that as many as 35 different loci may be involved. We report the mapping of a novel locus for autosomal recessive, non-syndromal deafness (DFNB16) in three consanguineous families originating from Pakistan and the Middle East. Using multipoint analysis (HOMOZ/MAPMAKER) a maximum combined lod score of 6.5 was obtained for the interval D15S1039-D15S123. Recombination events and haplotype analysis define a 12-14 cM critical region between the markers D15S1039 and D15S155 on chromosome 15q15-q21.
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Defective myosin VIIA gene responsible for Usher syndrome type IB
Dominique Well, Stéphane Blanchard, Josseline Kaplan et al. · Nature · 1995 · 1.1K citations
Nonsyndromic hearing impairment: unparalleled heterogeneity.
Guy Van Camp, P J Willems, Richard J. Smith · PubMed · 1997 · 336 citations
Medicine, Audiology, Otolaryngology +12