title: A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23.
abstract: The recessive mode of transmission accounts for approximately 75% of inherited non syndromic deafness cases. We have previously designed the conditions for linkage studies of this highly heterogeneous disorder [Guilford et al. (1994) Nature Genet. 6, 24-28]. Here, using a similar approach, we have studied the segregation of a gene responsible for congenital, profound and fully penetrant sensorineural deafness in a consanguineous family living in an isolated region of Lebanon. A maximum lod score of 8.03 (theta = 0.00) was detected with a new polymorphic marker, AFMa052yb5 (D2S2144). Observed recombinants and homozygosity mapping define a maximum interval of 2 cM for this gene, DFNB6, which lies between AFMb346ye5 (a new polymorphic marker) (D2S2303) and AFM254vc9 (D2S174) on chromosome 2p22-23.
authors.affiliation: Unité de Génétique Moléculaire Humaine, Institut Pasteur, Paris, France.
authors.forename: H
authors.initials: H
authors.lastname: Chaïb
authors.forename: C
authors.initials: C
authors.lastname: Place
authors.forename: N
authors.initials: N
authors.lastname: Salem
authors.forename: S
authors.initials: S
authors.lastname: Chardenoux
authors.forename: C
authors.initials: C
authors.lastname: Vincent
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: E
authors.initials: E
authors.lastname: El-Zir
authors.forename: J
authors.initials: J
authors.lastname: Loiselet
authors.forename: C
authors.initials: C
authors.lastname: Petit
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007861:Lebanon; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree
chemical_list: D005819:Genetic Markers