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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q
Nature Genetics, Volume 6, No. 1, Year 1994
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Description
Non–syndromic, recessively inherited deafness is the most predominant form of severe inherited childhood deafness. Until now, no gene responsible for this type of deafness has been localized, due to extreme genetic heterogeneity and limited clinical differentiation. Linkage analyses using highly polymorphic microsatellite markers were performed on two consanguineous families from Tunisia affected by this form of deafness. The deafness was profound, fully penetrant and prelingual. A maximum two–point lod score of 9.88 (θ = 0.001) was found with a marker detecting a 13q locus (D13S175). Linkage was also observed to the pericentromeric 13q12 loci D13S115 and D13S143. These data map this neurosensory deafness gene to the same region of chromosome 13q as the gene for severe, childhood autosomal recessive muscular dystrophy. © 1994 Nature Publishing Group.
Authors & Co-Authors
Guilford, Parry
France, Paris
Institut Pasteur, Paris
Ben Arab, Saïda
Tunisia, Tunis
Faculté de Midecine
Blanchard, Stéphane
France, Paris
Institut Pasteur, Paris
Levilliers, Jacqueline
France, Paris
Institut Pasteur, Paris
Weissenbach, Jean S.
France, Paris
Institut Pasteur, Paris
France, Evry
Généthon
Belkahia, Ali
Tunisia, Tunis
Hôpital la Rabta
Petit, Christine
France, Paris
Institut Pasteur, Paris
Statistics
Citations: 285
Authors: 7
Affiliations: 4
Identifiers
Doi:
10.1038/ng0194-24
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Disability
Genetics And Genomics
Maternal And Child Health
Study Locations
Tunisia