Hearing impairment is the most common inherited human sensory defect. Nonsyndromic Hearing Impairment (NSHI) is the most genetically heterogeneous trait known. Over 70 loci have been mapped and a total of 19 genes have been identified. We report here a novel locus (DFNA 30) for autosomal dominant NSHI that we mapped to chromosome 15q25-26 in an Italian four-generation family. The haplotype analysis has identified a critical interval of 18 cM between markers D15S151 and D15S130. This region does not overlap with DFNB16 locus but partially coincides with the otosclerosis (OTS) locus. Localisation of the locus DFNA30 is a first step towards the identification of the gene.

Mangino, M., Flex, E., Capon, F., Sangiuolo, F.c., Carraro, E., Gualandi, F., et al. (2001). Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26. EUROPEAN JOURNAL OF HUMAN GENETICS, 9(9), 667-671 [10.1038/sj.ejhg.5200707].

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26

CAPON, FRANCESCA;SANGIUOLO, FEDERICA CARLA;NOVELLI, GIUSEPPE;
2001

Abstract

Hearing impairment is the most common inherited human sensory defect. Nonsyndromic Hearing Impairment (NSHI) is the most genetically heterogeneous trait known. Over 70 loci have been mapped and a total of 19 genes have been identified. We report here a novel locus (DFNA 30) for autosomal dominant NSHI that we mapped to chromosome 15q25-26 in an Italian four-generation family. The haplotype analysis has identified a critical interval of 18 cM between markers D15S151 and D15S130. This region does not overlap with DFNB16 locus but partially coincides with the otosclerosis (OTS) locus. Localisation of the locus DFNA30 is a first step towards the identification of the gene.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - Genetica Medica
English
Con Impact Factor ISI
Chromosome Mapping; Chromosomes, Human, Pair 15; DNA; Family Health; Female; Genes, Dominant; Genetic Linkage; Genotype; Hearing Loss, Sensorineural; Humans; Lod Score; Male; Microsatellite Repeats; Pedigree
Mangino, M., Flex, E., Capon, F., Sangiuolo, F.c., Carraro, E., Gualandi, F., et al. (2001). Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26. EUROPEAN JOURNAL OF HUMAN GENETICS, 9(9), 667-671 [10.1038/sj.ejhg.5200707].
Mangino, M; Flex, E; Capon, F; Sangiuolo, Fc; Carraro, E; Gualandi, F; Mazzoli, M; Martini, A; Novelli, G; Dallapiccola, B
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/166473
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