A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

D. A. Campbell; D. P. McHale; K. A. Brown; L. M. Moynihan; M. Houseman; G. Karbani; G. Parry; A. H. Janjua; V. Newton; L. Al-Gazali; A. F. Markham; N. J. Lench; R. F. Mueller

doi:10.1136/jmg.34.12.1015

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

D. A. Campbell, D. P. McHale, K. A. Brown, L. M. Moynihan, M. Houseman, G. Karbani, G. Parry, A. H. Janjua, V. Newton, L. Al-Gazali, A. F. Markham, N. J. Lench, R. F. Mueller

Research output: Contribution to journal › Article › peer-review

36 Citations (Scopus)

Abstract

Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is genetically heterogeneous and it has been estimated that as many as 35 different loci may be involved. We report the mapping of a novel locus for autosomal recessive, non-syndromal deafness (DFNB16) in three consanguineous families originating from Pakistan and the Middle East. Using multipoint analysis (HOMOZ/MAPMAKER) a maximum combined lod score of 6.5 was obtained for the interval D15S1039-D15S123. Recombination events and haplotype analysis define a 12-14 cM. critical region between the markers D15S1039 and D15S155 on chromosome 15q15-q21.

Original language	English
Pages (from-to)	1015-1017
Number of pages	3
Journal	Journal of medical genetics
Volume	34
Issue number	12
DOIs	https://doi.org/10.1136/jmg.34.12.1015
Publication status	Published - 1997

Keywords

Autosomal recessive
Autozygosity mapping
Sensorineural deafness

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1136/jmg.34.12.1015

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Campbell, D. A., McHale, D. P., Brown, K. A., Moynihan, L. M., Houseman, M., Karbani, G., Parry, G., Janjua, A. H., Newton, V., Al-Gazali, L., Markham, A. F., Lench, N. J., & Mueller, R. F. (1997). A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. Journal of medical genetics, 34(12), 1015-1017. https://doi.org/10.1136/jmg.34.12.1015

Campbell, DA, McHale, DP, Brown, KA, Moynihan, LM, Houseman, M, Karbani, G, Parry, G, Janjua, AH, Newton, V, Al-Gazali, L, Markham, AF, Lench, NJ & Mueller, RF 1997, 'A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22', Journal of medical genetics, vol. 34, no. 12, pp. 1015-1017. https://doi.org/10.1136/jmg.34.12.1015

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title = "A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22",

abstract = "Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is genetically heterogeneous and it has been estimated that as many as 35 different loci may be involved. We report the mapping of a novel locus for autosomal recessive, non-syndromal deafness (DFNB16) in three consanguineous families originating from Pakistan and the Middle East. Using multipoint analysis (HOMOZ/MAPMAKER) a maximum combined lod score of 6.5 was obtained for the interval D15S1039-D15S123. Recombination events and haplotype analysis define a 12-14 cM. critical region between the markers D15S1039 and D15S155 on chromosome 15q15-q21.",

keywords = "Autosomal recessive, Autozygosity mapping, Sensorineural deafness",

author = "Campbell, {D. A.} and McHale, {D. P.} and Brown, {K. A.} and Moynihan, {L. M.} and M. Houseman and G. Karbani and G. Parry and Janjua, {A. H.} and V. Newton and L. Al-Gazali and Markham, {A. F.} and Lench, {N. J.} and Mueller, {R. F.}",

year = "1997",

doi = "10.1136/jmg.34.12.1015",

language = "English",

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AU - Campbell, D. A.

AU - McHale, D. P.

AU - Brown, K. A.

AU - Moynihan, L. M.

AU - Houseman, M.

AU - Karbani, G.

AU - Parry, G.

AU - Janjua, A. H.

AU - Newton, V.

AU - Al-Gazali, L.

AU - Markham, A. F.

AU - Lench, N. J.

AU - Mueller, R. F.

PY - 1997

Y1 - 1997

N2 - Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is genetically heterogeneous and it has been estimated that as many as 35 different loci may be involved. We report the mapping of a novel locus for autosomal recessive, non-syndromal deafness (DFNB16) in three consanguineous families originating from Pakistan and the Middle East. Using multipoint analysis (HOMOZ/MAPMAKER) a maximum combined lod score of 6.5 was obtained for the interval D15S1039-D15S123. Recombination events and haplotype analysis define a 12-14 cM. critical region between the markers D15S1039 and D15S155 on chromosome 15q15-q21.

AB - Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is genetically heterogeneous and it has been estimated that as many as 35 different loci may be involved. We report the mapping of a novel locus for autosomal recessive, non-syndromal deafness (DFNB16) in three consanguineous families originating from Pakistan and the Middle East. Using multipoint analysis (HOMOZ/MAPMAKER) a maximum combined lod score of 6.5 was obtained for the interval D15S1039-D15S123. Recombination events and haplotype analysis define a 12-14 cM. critical region between the markers D15S1039 and D15S155 on chromosome 15q15-q21.

KW - Autosomal recessive

KW - Autozygosity mapping

KW - Sensorineural deafness

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A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

Abstract

Keywords

ASJC Scopus subject areas

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