Mutation detection in the repeated part of the PKD1 gene.

The principle cause of one of the most prevalent genetic disorders, autosomal dominant polycystic kidney disease, involves mutations in the PKD1 gene. However, since its identification in 1994, only 27 mutations have been published. Detection of mutations has been complicated because the greater par...

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Main Authors: Roelfsema, J H, Spruit, L, Saris, J J, Chang, P, Pirson, Y, van Ommen, G J, Peters, D J, Breuning, M H
Formato: Artigo
Idioma:English
Publicado em: 1997
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1716049/
https://ncbi.nlm.nih.gov/pubmed/9345095
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spelling pubmed-17160492006-12-21 Mutation detection in the repeated part of the PKD1 gene. Roelfsema, J H Spruit, L Saris, J J Chang, P Pirson, Y van Ommen, G J Peters, D J Breuning, M H Am J Hum Genet Research Article The principle cause of one of the most prevalent genetic disorders, autosomal dominant polycystic kidney disease, involves mutations in the PKD1 gene. However, since its identification in 1994, only 27 mutations have been published. Detection of mutations has been complicated because the greater part of the gene lies within a genomic region that is reiterated several times at another locus on chromosome 16. Amplification of DNA fragments in the repeated part of the PKD1 gene will lead to coamplification of highly homologous fragments derived from this other locus. These additional fragments severely hamper point-mutation detection. None of the point mutations published to date are located in the repeated part of the PKD1 gene. However, we have reduced the problems posed by the strong homology, by using the protein-truncation test, and we have identified eight novel mutations, seven of which are located in the repeated part of the PKD1 gene. 1997-11 /pmc/articles/PMC1716049/ /pubmed/9345095 Text en
institution US National Library of Medicine
collection PubMed Central
language English
format Article
topic Research Article
spellingShingle Research Article
Roelfsema, J H
Spruit, L
Saris, J J
Chang, P
Pirson, Y
van Ommen, G J
Peters, D J
Breuning, M H
Mutation detection in the repeated part of the PKD1 gene.
description The principle cause of one of the most prevalent genetic disorders, autosomal dominant polycystic kidney disease, involves mutations in the PKD1 gene. However, since its identification in 1994, only 27 mutations have been published. Detection of mutations has been complicated because the greater part of the gene lies within a genomic region that is reiterated several times at another locus on chromosome 16. Amplification of DNA fragments in the repeated part of the PKD1 gene will lead to coamplification of highly homologous fragments derived from this other locus. These additional fragments severely hamper point-mutation detection. None of the point mutations published to date are located in the repeated part of the PKD1 gene. However, we have reduced the problems posed by the strong homology, by using the protein-truncation test, and we have identified eight novel mutations, seven of which are located in the repeated part of the PKD1 gene.
author Roelfsema, J H
Spruit, L
Saris, J J
Chang, P
Pirson, Y
van Ommen, G J
Peters, D J
Breuning, M H
author_facet Roelfsema, J H
Spruit, L
Saris, J J
Chang, P
Pirson, Y
van Ommen, G J
Peters, D J
Breuning, M H
author_sort Roelfsema, J H
title Mutation detection in the repeated part of the PKD1 gene.
title_short Mutation detection in the repeated part of the PKD1 gene.
title_full Mutation detection in the repeated part of the PKD1 gene.
title_fullStr Mutation detection in the repeated part of the PKD1 gene.
title_full_unstemmed Mutation detection in the repeated part of the PKD1 gene.
title_sort mutation detection in the repeated part of the pkd1 gene.
publishDate 1997
url https://ncbi.nlm.nih.gov/pmc/articles/PMC1716049/
https://ncbi.nlm.nih.gov/pubmed/9345095
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