A NEW LOCUS FOR NON-SYNDROMAL, AUTOSOMAL RECESSIVE, SENSORINEURAL HEARING-LOSS (DFNB16) MAPS TO HUMAN-CHROMOSOME 15Q21-Q22

Authors
CAMPBELL DA MCHALE DP BROWN KA MOYNIHAN LM HOUSEMAN M KARBANI G PARRY G JANJUA AH NEWTON V ALGAZALI L MARKHAM AF LENCH NJ MUELLER RF
Citation
Da. Campbell et al., A NEW LOCUS FOR NON-SYNDROMAL, AUTOSOMAL RECESSIVE, SENSORINEURAL HEARING-LOSS (DFNB16) MAPS TO HUMAN-CHROMOSOME 15Q21-Q22, Journal of Medical Genetics, 34(12), 1997, pp. 1015-1017
Citations number
21
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
34
Issue
12
Year of publication
1997
Pages
1015 - 1017
Database
ISI
SICI code
0022-2593(1997)34:12<1015:ANLFNA>2.0.ZU;2-N
Abstract
Non-syndromal, recessive deafness (NSRD) is the most common form of in herited deafness or hearing impairment in humans. NSRD is genetically heterogeneous and it has been estimated that as many as 35 different l oci may be involved. We report the mapping of a novel locus for autoso mal recessive, non-syndromal deafness (DFNB16) in three consanguineous families originating from Pakistan and the Middle East. Using multipo int analysis (HOMOZ/MAPMAKER) a maximum combined lod score of 6.5 was obtained for the interval D15S1039-D15S123. Recombination events and h aplotype analysis define a 12-14 cM critical region between the marker s D15S1039 and D15S155 on chromosome 15q15-q21.