Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment
| Autor: | Lisbeth Tranebjärg, Bjorn Solem, Paul Van de Heyning, Sai Prasad, Wendy Balemans, Kristien Verhoeven, Guy Van Camp, Isabelle Schatteman, Frank De Clau, Toril Fagerheim, Richard J.H. Smith, M. Verstreken, Sigrid Wayne |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Genetic Markers
Male Genetic Linkage Locus (genetics) Norwegian Deafness Biology Long arm Audiometry Gene mapping otorhinolaryngologic diseases Genetics Humans Genetics (clinical) Expressed Sequence Tags Family Health Chromosome Mapping language.human_language Pedigree Phenotype Haplotypes language Chromosomes Human Pair 6 Female Lod Score Lod scores |
| Zdroj: | Human genetics |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s004390000319 |
| Popis: | DFNA10 originally was mapped to the long arm of chromosome 6 in a large American family segregating for autosomal dominant progressive nonsyndromic hearing impairment. By extending this American family, we have reduced the original DFNA10 candidate region from 13 cM to 3.7 cM. We also report a Belgian family with autosomal dominant nonsyndromic hearing impairment linked to DFNA10 and a Norwegian family with the same condition in which linkage is suggestive, although maximum lod scores are only 2.5. The hearing phenotype in all three DFNA10 families is similar, with losses beginning in the middle frequencies and involving the low and high frequencies later in life. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink