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Freund Publishing House Ltd., 2000 1 AUDITORY AND VESTIBULAR MOUSE MUTANTS
 

Summary: İFreund Publishing House Ltd., 2000 1
AUDITORY AND VESTIBULAR MOUSE MUTANTS:
MODELS FOR HUMAN DEAFNESS
Nadav Ahituv and Karen B. Avraham*
Department of Human Genetics and Molecular Medicine,
Sackler School of Medicine, Tel Aviv University,
Ramat Aviv, Tel Aviv 69978, Israel
INTRODUCTION
Human deafness is extremely heterogeneous, and mutations in
over 100 genes may be associated with this common form of sensory
loss. The chromosomal location for over 60 loci is already known, but
only 18 of the genes have been cloned /1/. Genes that cause non-
syndromic hearing loss (NSHL) and vestibular dysfunction are
difficult to identify in the human population for several reasons,
including absence of characteristic clinical signs in deaf individuals,
assortive mating in deaf communities, genetic heterogeneity and small
family populations /2/. Geographically isolated families have been
invaluable for mapping deafness loci, but the long, arduous process of
identifying the genes continues. The critical region is often large since
the number of informative recombinations is limited when obtained

  

Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University

 

Collections: Biology and Medicine