[A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15]
| Autor: | D, Bönsch, C M, Schmidt, P, Scheer, J, Bohlender, C, Neumann, A, am Zehnhoff-Dinnesen, T, Deufel |
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| Jazyk: | němčina |
| Rok vydání: | 2007 |
| Předmět: |
Adult
Aged 80 and over Chromosome Aberrations Genetic Markers Male Adolescent Genotype Otoacoustic Emissions Spontaneous Chromosome Mapping Genes Recessive Middle Aged Pedigree Hearing Loss Bilateral Phenotype Gene Frequency Audiometry Pure-Tone Humans Female Lod Score Child Chromosomes Human Pair 19 Aged Genes Dominant |
| Zdroj: | HNO. 56(2) |
| ISSN: | 1433-0458 |
| Popis: | Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 54 loci for autosomal dominant non-syndromic sensorineural hearing loss (NSSHL) have been identified by linkage analysis.In this study a German pedigree has been identified segregating a progressive bilateral loss of lower and middle frequencies.A genome-wide screening and linkage analysis revealed the existence of a new NSSHL locus (DFNA57). The phenotype was mapped to a 10 degrees Mbp interval on chromosome 19p13.2 from 7.8 to 18.2 degrees Mbp, a maximum 2-point LOD score of 3.08 was obtained for the marker D19S586. The region overlaps with the recessive locus DFNB15.The results underline the heterogeneity of hereditary hearing disorders. Identification of genes can help to reach a better understanding of the molecular mechanism of hearing. |
| Databáze: | OpenAIRE |
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