DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.
Am J Hum Genet
; 68(1): 254-60, 2001 Jan.
Article
em En
| MEDLINE
| ID: mdl-11115382
ABSTRACT
Using linkage analysis, we identified a novel dominant locus, DFNA25, for delayed-onset, progressive, high-frequency, nonsyndromic sensorineural hearing loss in a large, multigenerational United States family of Czech descent. On the basis of recombinations in affected individuals, we determined that DFNA25 is located in a 20-cM region of chromosome 12q21-24 between D12S327 (centromeric) and D12S84 (telomeric), with a maximum two-point LOD score of 6.82, at recombination fraction.041, for D12S1030. Candidate genes in this region include ATP2A2, ATP2B1, UBE3B, and VR-OAC. DFNA25 may be the human ortholog of bronx waltzer (bv).
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 12
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Genes Dominantes
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Perda Auditiva Neurossensorial
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Child, preschool
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Female
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Humans
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Male
País/Região como assunto:
America do norte
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article