Human Molecular Genetics, Vol 5, 165-168, Copyright © 1996 by Oxford University Press
A Veske, R Oehlmann, F Younus, A Mohyuddin, B Muller-Myhsok, SQ Mehdi and A Gal
Autosomal recessive childhood-onset non-syndromic deafness is one of the
most frequent forms of inherited hearing impairment. Recently five
different chromosomal regions, 7q31, 11q13.5, 13q12, 14q and the
pericentromeric region of chromosome 17, have been shown to harbour disease
loci for this type of neurosensory deafness. We have studied a large family
from Pakistan, containing several consanguineous marriages and segregating
for a recessive non-syndromic childhood-onset deafness. Linkage analysis
mapped the disease locus (DFNB8) on the distal long arm of chromosome 21,
most likely between D21S212 and D21S1225 with the highest lod score of 7.31
at theta = 0.00 for D21S1575 on 21q22.3.
ARTICLES
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan
Institut fur Humangenetik, Universitats-Krankenhaus Eppendorf, Hamburg, Germany.
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