LINKAGE STUDIES OF NON-SYNDROMIC RECESSIVE DEAFNESS (NSRD) IN A FAMILY ORIGINATING FROM THE MIRPUR REGION OF PAKISTAN MAPS DFNB1 CENTROMERIC TO D13S175

Authors
BROWN KA JANJUA AH KARBANI G PARRY G NOBLE A CROCKFORD G BISHOP DT NEWTON VE MARKHAM AF MUELLER RF
Citation
Ka. Brown et al., LINKAGE STUDIES OF NON-SYNDROMIC RECESSIVE DEAFNESS (NSRD) IN A FAMILY ORIGINATING FROM THE MIRPUR REGION OF PAKISTAN MAPS DFNB1 CENTROMERIC TO D13S175, Human molecular genetics, 5(1), 1996, pp. 169-173
Citations number
46
Categorie Soggetti
Genetics & Heredity",Biology
Journal title
Human molecular genetics → ACNP
ISSN journal
09646906
Volume
5
Issue
1
Year of publication
1996
Pages
169 - 173
Database
ISI
SICI code
0964-6906(1996)5:1<169:LSONRD>2.0.ZU;2-C
Abstract
Autosomal recessive non-syndromal hearing impairment (NSRD) is genetic ally heterogeneous. Five loci have been identified to date which map t o chromosomes 13(DFNB1), 11(DFNB2), 17(DFNB3), 7 (DFNB4) and 14(DFBN5) . We report definite linkage of NSRD to the locus DFNB1 in a single fa mily of 27 families studied of Pakistani origin. Haplotype analysis of markers in the pericentromeric region of chromosome 13q revealed a re combination event which maps DFNB1 proximal to the marker D13S175 and in the vicinity of D13S143.