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A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.
Pulleyn, L J; Jackson, A P; Roberts, E; Carridice, A; Muxworthy, C; Houseman, M; Al-Gazali, L I; Lench, N J; Markham, A F; Mueller, R F.
Afiliação
  • Pulleyn LJ; Molecular Medicine Unit, University of Leeds, St James's University Hospital, UK.
Eur J Hum Genet ; 8(12): 991-3, 2000 Dec.
Article em En | MEDLINE | ID: mdl-11175289
ABSTRACT
Non-syndromic sensorineural deafness is an extremely genetically heterogeneous condition. We have used autozygosity mapping in a large consanguineous United Arab Emirate family to identify a novel locus for autosomal recessive non-syndromic sensorineural deafness, DFNB27, on chromosome 2q23-q31, with a maximum two-point lod score of 5.18 at theta = 0 for marker D2S2257. The DFNB27 locus extends over a 17 cM region between D2S2157 and D2S2273, and may overlap the DFNA16 locus for dominantly inherited, fluctuating, progressive non-syndromal hearing loss. However, genotype data suggests that the locus is likely to be refined to between D2S326 and D2S2273 and thus distinct from the DFNA16 locus.
Assuntos
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Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 2 / Perda Auditiva Neurossensorial Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2000 Tipo de documento: Article
Buscar no Google
Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 2 / Perda Auditiva Neurossensorial Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2000 Tipo de documento: Article