The Gene for an Inherited Form of Deafness Maps to Chromosome 5q31

Primary-i.e., nonsyndromal-postlingual deafness is inherited as an autosomal dominant phenotype in a large kindred in Costa Rica. Genetically susceptible individuals begin to lose hearing at low frequencies at about age 10 years, after language and speaking are learned. Deafness inevitably progresse...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 1992-06, Vol.89 (11), p.5181-5184
Hauptverfasser:	Leon, Pedro E., Raventos, Henriette, Lynch, Eric, Morrow, Jan, King, Mary-Claire
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Biological and medical sciences chromosome 5 Chromosome Mapping Chromosomes Chromosomes, Human, Pair 5 Costa Rica Deafness Deafness - genetics Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology family studies gene mapping Genes Genes, Dominant Genetic inheritance Genetic loci Genetics Genotypes Hearing loss hereditary diseases Human genetics Humans man Medical genetics Medical sciences Molecular Sequence Data Non tumoral diseases Oligodeoxyribonucleotides - chemistry Otorhinolaryngology. Stomatology Pedigree Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Pure tone audiometry
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	Primary-i.e., nonsyndromal-postlingual deafness is inherited as an autosomal dominant phenotype in a large kindred in Costa Rica. Genetically susceptible individuals begin to lose hearing at low frequencies at about age 10 years, after language and speaking are learned. Deafness inevitably progresses by age 30 years to bilateral hearing loss of all frequencies. Intelligence, fertility, and life expectancy are normal. The family traces its ancestry to an affected founder born in Costa Rica in 1754. We have mapped the gene for deafness in this kindred to chromosome 5q31, between the markers IL9 and GRL, by linkage analysis involving 99 informative relatives.
ISSN:	0027-8424 1091-6490
DOI:	10.1073/pnas.89.11.5181