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Human Molecular Genetics, Vol 5, 155-158, Copyright © 1996 by Oxford University Press

ARTICLES

A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23

H Chaib, C Place, N Salem, S Chardenoux, C Vincent, J Weissenbach, E El-Zir, J Loiselet and C Petit
Unite de Genetique Moleculaire Humaine, Institut Pasteur, Paris, France.

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.
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