Linkage analysis of the nail-patella syndrome.

Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by dysplasia of nails and patella, decreased mobility of the elbow, iliac horns, and, in some cases, nephropathy. The disorder has been mapped to the long arm of chromosome 9, but the precise localization and identity of the...

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Main Authors: Campeau, E, Watkins, D, Rouleau, G A, Babul, R, Buchanan, J A, Meschino, W, Der Kaloustian, V M
Formato: Artigo
Idioma:English
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801314/
https://ncbi.nlm.nih.gov/pubmed/7825584
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spelling pubmed-18013142007-02-20 Linkage analysis of the nail-patella syndrome. Campeau, E Watkins, D Rouleau, G A Babul, R Buchanan, J A Meschino, W Der Kaloustian, V M Am J Hum Genet Research Article Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by dysplasia of nails and patella, decreased mobility of the elbow, iliac horns, and, in some cases, nephropathy. The disorder has been mapped to the long arm of chromosome 9, but the precise localization and identity of the NPS gene are unknown. Linkage analysis in three NPS families, using highly informative dinucleotide repeat polymorphisms on 9q33-q34, confirmed linkage of NPS to this chromosome. Recombinations were detected, by two-point linkage analysis, between NPS and the centromeric markers D9S60 and the gelsolin gene and the telomeric markers D9S64 and D9S66, in one of the families. Haplotype analysis suggested an additional recombination between NPS and the argininosuccinate synthetase (ASS) gene. These results localize the NPS gene to an interval on 9q34.1, distal to D9S60 and proximal to ASS, comprising a genetic distance of approximately 9 cM. This represents a significant refinement in the localization of the NPS gene. 1995-01 /pmc/articles/PMC1801314/ /pubmed/7825584 Text en
institution US National Library of Medicine
collection PubMed Central
language English
format Article
topic Research Article
spellingShingle Research Article
Campeau, E
Watkins, D
Rouleau, G A
Babul, R
Buchanan, J A
Meschino, W
Der Kaloustian, V M
Linkage analysis of the nail-patella syndrome.
description Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by dysplasia of nails and patella, decreased mobility of the elbow, iliac horns, and, in some cases, nephropathy. The disorder has been mapped to the long arm of chromosome 9, but the precise localization and identity of the NPS gene are unknown. Linkage analysis in three NPS families, using highly informative dinucleotide repeat polymorphisms on 9q33-q34, confirmed linkage of NPS to this chromosome. Recombinations were detected, by two-point linkage analysis, between NPS and the centromeric markers D9S60 and the gelsolin gene and the telomeric markers D9S64 and D9S66, in one of the families. Haplotype analysis suggested an additional recombination between NPS and the argininosuccinate synthetase (ASS) gene. These results localize the NPS gene to an interval on 9q34.1, distal to D9S60 and proximal to ASS, comprising a genetic distance of approximately 9 cM. This represents a significant refinement in the localization of the NPS gene.
author Campeau, E
Watkins, D
Rouleau, G A
Babul, R
Buchanan, J A
Meschino, W
Der Kaloustian, V M
author_facet Campeau, E
Watkins, D
Rouleau, G A
Babul, R
Buchanan, J A
Meschino, W
Der Kaloustian, V M
author_sort Campeau, E
title Linkage analysis of the nail-patella syndrome.
title_short Linkage analysis of the nail-patella syndrome.
title_full Linkage analysis of the nail-patella syndrome.
title_fullStr Linkage analysis of the nail-patella syndrome.
title_full_unstemmed Linkage analysis of the nail-patella syndrome.
title_sort linkage analysis of the nail-patella syndrome.
publishDate 1995
url https://ncbi.nlm.nih.gov/pmc/articles/PMC1801314/
https://ncbi.nlm.nih.gov/pubmed/7825584
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