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Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.

Authors
  • Veske, A
  • Oehlmann, R
  • Younus, F
  • Mohyuddin, A
  • Müller-Myhsok, B
  • Mehdi, S Q
  • Gal, A
Type
Published Article
Journal
Human Molecular Genetics
Publisher
Oxford University Press (OUP)
Publication Date
Jan 01, 1996
Volume
5
Issue
1
Pages
165–168
Identifiers
PMID: 8789456
Source
Medline
License
Unknown

Abstract

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.

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