Back to Search
Start Over
Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene toa 1.25 Mb region on chromosome 1p
- Source :
- Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 70-74, STARTPAGE=70;ENDPAGE=74;ISSN=0888-7543;TITLE=Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 41, 1, pp. 70-83, Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 41, pp. 70-74, Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 41, 70-83, Genomics: international journal of gene mapping and nucleotide sequencing
- Publication Year :
- 1997
-
Abstract
- Thus far, 13 genes for autosomal dominant hearing loss have been localized to specific chromosomal regions, but none of the genes has been cloned. Only a single family has been linked to each of these loci, with the exception of DFNA2. DFNA2 was originally mapped in two extended families originating from Indonesia and the United States. In this study we report linkage to DFNA2 in three additional large families with autosomal dominant hearing loss from Belgium and The Netherlands. These five DFNA2 families show a similar progressive sensorineural hearing loss, starting in the high frequencies and also affecting the middle and low frequencies later in life. Combining the information from all linked families, the candidate region that is most likely to contain the DFNA2 gene was reduced to a 1.25-Mb region between markers D1S432 and MYCL1. Different haplotypes segregating with the hearing loss were found in all five families, suggesting that different mutations are present in the same gene. These results indicate that DFNA2 is most likely an important gene for autosomal dominant hearing loss.
- Subjects :
- Male
Genetic Linkage
Hearing loss
Hearing Loss, Sensorineural
Erfelijk gehoorverlies
Biology
Belgium
Genetics of hearing
Gene mapping
Genetic linkage
otorhinolaryngologic diseases
Genetics
medicine
Humans
GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries)
Gene
Alleles
Genes, Dominant
Netherlands
Recombination, Genetic
Haplotype
Chromosome Mapping
Chromosome
medicine.disease
United States
Pedigree
Haplotypes
Chromosomes, Human, Pair 1
Indonesia
Genetic marker
Female
Sensorineural hearing loss
medicine.symptom
Microsatellite Repeats
Subjects
Details
- ISSN :
- 08887543
- Database :
- OpenAIRE
- Journal :
- Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes
- Accession number :
- edsair.doi.dedup.....baea333ab9f83752d831374fc14fbdfd