242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread
Identifieur interne : 00DC60 ( Main/Exploration ); précédent : 00DC59; suivant : 00DC61242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread
Auteurs : L. A. J. Blonden [Pays-Bas] ; P. M. Grootscholten [Pays-Bas] ; J. T. Den Dunnen [Pays-Bas] ; E. Bakker [Pays-Bas] ; S. Abbs [Royaume-Uni] ; M. Bobrow [Royaume-Uni] ; C. Boehm [États-Unis] ; C. Van Broeckhoven [Belgique] ; L. Baumbach [États-Unis] ; J. Chamberlain [États-Unis] ; C. T. Caskey [États-Unis] ; M. Denton [Australie] ; L. Felicetti [Italie] ; G. Galluzi [Italie] ; K. H. Fischbeck [États-Unis] ; U. Francke [États-Unis] ; B. Darras [États-Unis] ; H. Gilgenkrantz [France] ; J.-C. Kaplan [France] ; F. H. Herrmann [Allemagne] ; C. Junien [France] ; C. Boileau [France] ; S. Liechti-Gallati [Suisse] ; M. Lindlöf [Finlande] ; T. Matsumoto [Japon] ; N. Niikawa [Japon] ; C. R. Müller [Allemagne] ; J. Poncin [Belgique] ; S. Malcolm [Royaume-Uni] ; E. Robertson [Royaume-Uni] ; G. Romeo [Italie] ; A. E. Covone [Italie] ; H. Scheffer [Pays-Bas] ; E. Schröder [Allemagne] ; M. Schwartz [Danemark] ; C. Verellen [Belgique] ; A. Walker [États-Unis] ; R. Worton [Canada] ; E. Gillard [Canada] ; G. J. B. Van Ommen [Pays-Bas]Source :
- Genomics [ 0888-7543 ] ; 1991.
Descripteurs français
- Wicri :
- topic : Génétique.
English descriptors
- KwdEn :
- Bakker, Blonden, Breakpoint, Breakpoints, Carrier detection, Cdna, Cosmid, Cosmids cpt4, Cpt1, Cpt4, Deletion, Deletion breakpoint, Deletion breakpoints, Distal half, Duchenne, Dunnen, Dystrophy, Exon, Fragment, Genet, Genetics, Human genetics, Hybridization, Intron, Junction fragment, Junction fragments, Koenig, Medical genetics, Mutation, Ommen, Sylvius laboratory, Wapenaar, Whole cosmid hybridization, Whole cosmids.
- Teeft :
- Bakker, Blonden, Breakpoint, Breakpoints, Carrier detection, Cdna, Cosmid, Cosmids cpt4, Cpt1, Cpt4, Deletion, Deletion breakpoint, Deletion breakpoints, Distal half, Duchenne, Dunnen, Dystrophy, Exon, Fragment, Genet, Genetics, Human genetics, Hybridization, Intron, Junction fragment, Junction fragments, Koenig, Medical genetics, Mutation, Ommen, Sylvius laboratory, Wapenaar, Whole cosmid hybridization, Whole cosmids.
Abstract
Abstract: Using whole cosmids as probes, we have mapped 242 DMD BMD deletion breakpoints located in the major deletion hot spot of the DMD gene. Of these, 113 breakpoints were mapped more precisely to individual restriction enzyme fragments in the distal 80 kb of the 170-kb intron 44. An additional 12 breakpoints were mapped to the adjacent 10 kb of introm 45. The breakpoints are distributed over the entire region, with no significant local variation in frequency. Furthermore, deletion sizes vary and are not influenced by the positions of the breakpoints. This argues against a predominant role of one or a few specific sequences in causing frequent rearrangements. It suggests that structural characteristics or a more widespread recombinogenic sequence makes this region so susceptible to deletion. Our study revealed several RFLPs, one of which is a 300-bp insertion/deletion polymorphism. Abnormally migrating junction fragments are found in 81% of the precisely mapped deletions and are highly valuable in the diagnosis of carrier females.
Url:
DOI: 10.1016/0888-7543(91)90445-K
Affiliations:
- Allemagne, Australie, Belgique, Canada, Danemark, Finlande, France, Italie, Japon, Pays-Bas, Royaume-Uni, Suisse, États-Unis
- Angleterre, Bavière, Californie, Canton de Berne, Caroline du Nord, District de Basse-Franconie, Grand Londres, Groningue (province), Hollande-Méridionale, Latium, Maryland, Massachusetts, Pennsylvanie, Province d'Anvers, Province du Brabant wallon, Région flamande, Région wallonne, Texas, Uusimaa, Île-de-France
- Anvers, Berne, Groningue (ville), Helsinki, Leyde, Londres, Louvain-la-Neuve, Paris, Rome, Wurtzbourg
- Université catholique de Louvain, Université d'Anvers, Université d'Helsinki, Université de Groningue, Université de Londres, Université de Wurtzbourg
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Le document en format XML
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A. J." last="Blonden">L. A. J. Blonden</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Sylvius Laboratory, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Grootscholten, P M" sort="Grootscholten, P M" uniqKey="Grootscholten P" first="P. M." last="Grootscholten">P. M. Grootscholten</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Sylvius Laboratory, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Den Dunnen, J T" sort="Den Dunnen, J T" uniqKey="Den Dunnen J" first="J. T." last="Den Dunnen">J. T. Den Dunnen</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Sylvius Laboratory, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Bakker, E" sort="Bakker, E" uniqKey="Bakker E" first="E." last="Bakker">E. Bakker</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Sylvius Laboratory, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Abbs, S" sort="Abbs, S" uniqKey="Abbs S" first="S." last="Abbs">S. Abbs</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Paediatric Research Unit, The Prince Philip Research Laboratories, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bobrow, M" sort="Bobrow, M" uniqKey="Bobrow M" first="M." last="Bobrow">M. Bobrow</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Paediatric Research Unit, The Prince Philip Research Laboratories, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Boehm, C" sort="Boehm, C" uniqKey="Boehm C" first="C." last="Boehm">C. Boehm</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Van Broeckhoven, C" sort="Van Broeckhoven, C" uniqKey="Van Broeckhoven C" first="C." last="Van Broeckhoven">C. Van Broeckhoven</name><affiliation wicri:level="4"><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Biochemistry, University of Antwerp</wicri:regionArea><placeName><settlement type="city">Anvers</settlement><region>Région flamande</region><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Baumbach, L" sort="Baumbach, L" uniqKey="Baumbach L" first="L." last="Baumbach">L. Baumbach</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Chamberlain, J" sort="Chamberlain, J" uniqKey="Chamberlain J" first="J." last="Chamberlain">J. Chamberlain</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Caskey, C T" sort="Caskey, C T" uniqKey="Caskey C" first="C. T." last="Caskey">C. T. Caskey</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Denton, M" sort="Denton, M" uniqKey="Denton M" first="M." last="Denton">M. Denton</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Chemistry, The Prince Henry Hospital, Randwick</wicri:regionArea><wicri:noRegion>Randwick</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Prince of Wales Hospital, Randwick</wicri:regionArea><wicri:noRegion>Randwick</wicri:noRegion></affiliation></author><author><name sortKey="Felicetti, L" sort="Felicetti, L" uniqKey="Felicetti L" first="L." last="Felicetti">L. Felicetti</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Biologia Cellulare, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Galluzi, G" sort="Galluzi, G" uniqKey="Galluzi G" first="G." last="Galluzi">G. Galluzi</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Biologia Cellulare, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Fischbeck, K H" sort="Fischbeck, K H" uniqKey="Fischbeck K" first="K. H." last="Fischbeck">K. H. Fischbeck</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Francke, U" sort="Francke, U" uniqKey="Francke U" first="U." last="Francke">U. Francke</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Howard Hughes Medical Institute, Stanford University Medical Center, Stanford, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics, Stanford University Medical Center, Stanford, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Darras, B" sort="Darras, B" uniqKey="Darras B" first="B." last="Darras">B. Darras</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, New England Medical Center, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Gilgenkrantz, H" sort="Gilgenkrantz, H" uniqKey="Gilgenkrantz H" first="H." last="Gilgenkrantz">H. Gilgenkrantz</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut de Pathologie Moléculaire, Unité 129, INSERM, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Kaplan, J C" sort="Kaplan, J C" uniqKey="Kaplan J" first="J.-C." last="Kaplan">J.-C. Kaplan</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut de Pathologie Moléculaire, Unité 129, INSERM, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Herrmann, F H" sort="Herrmann, F H" uniqKey="Herrmann F" first="F. H." last="Herrmann">F. H. Herrmann</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Medizinische Genetik, Ernst Moritz Arndt Universität, Greifswald</wicri:regionArea><wicri:noRegion>Greifswald</wicri:noRegion><wicri:noRegion>Greifswald</wicri:noRegion></affiliation></author><author><name sortKey="Junien, C" sort="Junien, C" uniqKey="Junien C" first="C." last="Junien">C. Junien</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Génétique et Pathologie Foetale, Unité 73, INSERM, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Boileau, C" sort="Boileau, C" uniqKey="Boileau C" first="C." last="Boileau">C. Boileau</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Génétique et Pathologie Foetale, Unité 73, INSERM, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Liechti Gallati, S" sort="Liechti Gallati, S" uniqKey="Liechti Gallati S" first="S." last="Liechti-Gallati">S. Liechti-Gallati</name><affiliation wicri:level="3"><country xml:lang="fr">Suisse</country><wicri:regionArea>Abteilung Medizinische Genetik, Inselspital, Bern</wicri:regionArea><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region></placeName></affiliation></author><author><name sortKey="Lindlof, M" sort="Lindlof, M" uniqKey="Lindlof M" first="M." last="Lindlöf">M. Lindlöf</name><affiliation wicri:level="4"><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Medical Genetics, University of Helsinki</wicri:regionArea><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName><orgName type="university">Université d'Helsinki</orgName></affiliation></author><author><name sortKey="Matsumoto, T" sort="Matsumoto, T" uniqKey="Matsumoto T" first="T." last="Matsumoto">T. Matsumoto</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Human Genetics, Nagasaki University School of Medicine</wicri:regionArea><wicri:noRegion>Nagasaki University School of Medicine</wicri:noRegion></affiliation></author><author><name sortKey="Niikawa, N" sort="Niikawa, N" uniqKey="Niikawa N" first="N." last="Niikawa">N. Niikawa</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Human Genetics, Nagasaki University School of Medicine</wicri:regionArea><wicri:noRegion>Nagasaki University School of Medicine</wicri:noRegion></affiliation></author><author><name sortKey="Muller, C R" sort="Muller, C R" uniqKey="Muller C" first="C. R." last="Müller">C. R. Müller</name><affiliation wicri:level="4"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Universität Würzburg</wicri:regionArea><placeName><settlement type="city">Wurtzbourg</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Basse-Franconie</region></placeName><orgName type="university">Université de Wurtzbourg</orgName></affiliation></author><author><name sortKey="Poncin, J" sort="Poncin, J" uniqKey="Poncin J" first="J." last="Poncin">J. Poncin</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratoire de Chimie médicale et de Toxicologie, Centre Hospitalier Universitaire de Liège</wicri:regionArea><wicri:noRegion>Centre Hospitalier Universitaire de Liège</wicri:noRegion></affiliation></author><author><name sortKey="Malcolm, S" sort="Malcolm, S" uniqKey="Malcolm S" first="S." last="Malcolm">S. Malcolm</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Child Health, University of London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Robertson, E" sort="Robertson, E" uniqKey="Robertson E" first="E." last="Robertson">E. Robertson</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Child Health, University of London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Romeo, G" sort="Romeo, G" uniqKey="Romeo G" first="G." last="Romeo">G. Romeo</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Instituto Giannina Gaslini, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Covone, A E" sort="Covone, A E" uniqKey="Covone A" first="A. E." last="Covone">A. E. Covone</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Instituto Giannina Gaslini, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Scheffer, H" sort="Scheffer, H" uniqKey="Scheffer H" first="H." last="Scheffer">H. Scheffer</name><affiliation wicri:level="4"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Medical Genetics, University of Groningen</wicri:regionArea><placeName><settlement type="city">Groningue (ville)</settlement><region>Groningue (province)</region></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Schroder, E" sort="Schroder, E" uniqKey="Schroder E" first="E." last="Schröder">E. Schröder</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Medizinische Einrichtungen der Universität Düsseldorf</wicri:regionArea></affiliation></author><author><name sortKey="Schwartz, M" sort="Schwartz, M" uniqKey="Schwartz M" first="M." last="Schwartz">M. Schwartz</name><affiliation wicri:level="1"><country xml:lang="fr">Danemark</country><wicri:regionArea>Afsnit for Klinisk Genetik Metabolisk Laboratorium, Rigshospitalet København</wicri:regionArea><wicri:noRegion>Rigshospitalet København</wicri:noRegion></affiliation></author><author><name sortKey="Verellen, C" sort="Verellen, C" uniqKey="Verellen C" first="C." last="Verellen">C. Verellen</name><affiliation wicri:level="4"><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre de Genetique Medicale, Université Catholique de Louvain</wicri:regionArea><placeName><settlement type="city">Louvain-la-Neuve</settlement><region type="region" nuts="1">Région wallonne</region><region type="province" nuts="1">Province du Brabant wallon</region></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Walker, A" sort="Walker, A" uniqKey="Walker A" first="A." last="Walker">A. Walker</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurology, Duke University Medical Center, Durham, North Carolina</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Worton, R" sort="Worton, R" uniqKey="Worton R" first="R." last="Worton">R. Worton</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Genetics, the Hospital for Sick Children, Toronto</wicri:regionArea><wicri:noRegion>Toronto</wicri:noRegion></affiliation></author><author><name sortKey="Gillard, E" sort="Gillard, E" uniqKey="Gillard E" first="E." last="Gillard">E. Gillard</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Genetics, the Hospital for Sick Children, Toronto</wicri:regionArea><wicri:noRegion>Toronto</wicri:noRegion></affiliation></author><author><name sortKey="Van Ommen, G J B" sort="Van Ommen, G J B" uniqKey="Van Ommen G" first="G. J. B." last="Van Ommen">G. J. B. Van Ommen</name><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>To whom correspondence should be addressed at the Department of Human Genetics, Sylvius Laboratory, State University Leiden, Wassenaarseweg 72, 2333 AL Leiden</wicri:regionArea><wicri:noRegion>2333 AL Leiden</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Sylvius Laboratory, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Genomics</title><title level="j" type="abbrev">YGENO</title><idno type="ISSN">0888-7543</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1991">1991</date><biblScope unit="volume">10</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="631">631</biblScope><biblScope unit="page" to="639">639</biblScope></imprint><idno type="ISSN">0888-7543</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0888-7543</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Bakker</term><term>Blonden</term><term>Breakpoint</term><term>Breakpoints</term><term>Carrier detection</term><term>Cdna</term><term>Cosmid</term><term>Cosmids cpt4</term><term>Cpt1</term><term>Cpt4</term><term>Deletion</term><term>Deletion breakpoint</term><term>Deletion breakpoints</term><term>Distal half</term><term>Duchenne</term><term>Dunnen</term><term>Dystrophy</term><term>Exon</term><term>Fragment</term><term>Genet</term><term>Genetics</term><term>Human genetics</term><term>Hybridization</term><term>Intron</term><term>Junction fragment</term><term>Junction fragments</term><term>Koenig</term><term>Medical genetics</term><term>Mutation</term><term>Ommen</term><term>Sylvius laboratory</term><term>Wapenaar</term><term>Whole cosmid hybridization</term><term>Whole cosmids</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Bakker</term><term>Blonden</term><term>Breakpoint</term><term>Breakpoints</term><term>Carrier detection</term><term>Cdna</term><term>Cosmid</term><term>Cosmids cpt4</term><term>Cpt1</term><term>Cpt4</term><term>Deletion</term><term>Deletion breakpoint</term><term>Deletion breakpoints</term><term>Distal half</term><term>Duchenne</term><term>Dunnen</term><term>Dystrophy</term><term>Exon</term><term>Fragment</term><term>Genet</term><term>Genetics</term><term>Human genetics</term><term>Hybridization</term><term>Intron</term><term>Junction fragment</term><term>Junction fragments</term><term>Koenig</term><term>Medical genetics</term><term>Mutation</term><term>Ommen</term><term>Sylvius laboratory</term><term>Wapenaar</term><term>Whole cosmid hybridization</term><term>Whole cosmids</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Abstract: Using whole cosmids as probes, we have mapped 242 DMD BMD deletion breakpoints located in the major deletion hot spot of the DMD gene. Of these, 113 breakpoints were mapped more precisely to individual restriction enzyme fragments in the distal 80 kb of the 170-kb intron 44. An additional 12 breakpoints were mapped to the adjacent 10 kb of introm 45. The breakpoints are distributed over the entire region, with no significant local variation in frequency. Furthermore, deletion sizes vary and are not influenced by the positions of the breakpoints. This argues against a predominant role of one or a few specific sequences in causing frequent rearrangements. It suggests that structural characteristics or a more widespread recombinogenic sequence makes this region so susceptible to deletion. Our study revealed several RFLPs, one of which is a 300-bp insertion/deletion polymorphism. Abnormally migrating junction fragments are found in 81% of the precisely mapped deletions and are highly valuable in the diagnosis of carrier females.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>Canada</li><li>Danemark</li><li>Finlande</li><li>France</li><li>Italie</li><li>Japon</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suisse</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Bavière</li><li>Californie</li><li>Canton de Berne</li><li>Caroline du Nord</li><li>District de Basse-Franconie</li><li>Grand Londres</li><li>Groningue (province)</li><li>Hollande-Méridionale</li><li>Latium</li><li>Maryland</li><li>Massachusetts</li><li>Pennsylvanie</li><li>Province d'Anvers</li><li>Province du Brabant wallon</li><li>Région flamande</li><li>Région wallonne</li><li>Texas</li><li>Uusimaa</li><li>Île-de-France</li></region><settlement><li>Anvers</li><li>Berne</li><li>Groningue (ville)</li><li>Helsinki</li><li>Leyde</li><li>Londres</li><li>Louvain-la-Neuve</li><li>Paris</li><li>Rome</li><li>Wurtzbourg</li></settlement><orgName><li>Université catholique de Louvain</li><li>Université d'Anvers</li><li>Université d'Helsinki</li><li>Université de Groningue</li><li>Université de Londres</li><li>Université de Wurtzbourg</li></orgName></list><tree><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Blonden, L A J" sort="Blonden, L A J" uniqKey="Blonden L" first="L. A. J." last="Blonden">L. A. J. Blonden</name></region><name sortKey="Bakker, E" sort="Bakker, E" uniqKey="Bakker E" first="E." last="Bakker">E. Bakker</name><name sortKey="Den Dunnen, J T" sort="Den Dunnen, J T" uniqKey="Den Dunnen J" first="J. T." last="Den Dunnen">J. T. Den Dunnen</name><name sortKey="Grootscholten, P M" sort="Grootscholten, P M" uniqKey="Grootscholten P" first="P. M." last="Grootscholten">P. M. Grootscholten</name><name sortKey="Scheffer, H" sort="Scheffer, H" uniqKey="Scheffer H" first="H." last="Scheffer">H. Scheffer</name><name sortKey="Van Ommen, G J B" sort="Van Ommen, G J B" uniqKey="Van Ommen G" first="G. J. B." last="Van Ommen">G. J. B. Van Ommen</name><name sortKey="Van Ommen, G J B" sort="Van Ommen, G J B" uniqKey="Van Ommen G" first="G. J. B." last="Van Ommen">G. J. B. Van Ommen</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Abbs, S" sort="Abbs, S" uniqKey="Abbs S" first="S." last="Abbs">S. Abbs</name></region><name sortKey="Bobrow, M" sort="Bobrow, M" uniqKey="Bobrow M" first="M." last="Bobrow">M. Bobrow</name><name sortKey="Malcolm, S" sort="Malcolm, S" uniqKey="Malcolm S" first="S." last="Malcolm">S. Malcolm</name><name sortKey="Robertson, E" sort="Robertson, E" uniqKey="Robertson E" first="E." last="Robertson">E. Robertson</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Boehm, C" sort="Boehm, C" uniqKey="Boehm C" first="C." last="Boehm">C. Boehm</name></region><name sortKey="Baumbach, L" sort="Baumbach, L" uniqKey="Baumbach L" first="L." last="Baumbach">L. Baumbach</name><name sortKey="Caskey, C T" sort="Caskey, C T" uniqKey="Caskey C" first="C. T." last="Caskey">C. T. Caskey</name><name sortKey="Chamberlain, J" sort="Chamberlain, J" uniqKey="Chamberlain J" first="J." last="Chamberlain">J. Chamberlain</name><name sortKey="Darras, B" sort="Darras, B" uniqKey="Darras B" first="B." last="Darras">B. Darras</name><name sortKey="Fischbeck, K H" sort="Fischbeck, K H" uniqKey="Fischbeck K" first="K. H." last="Fischbeck">K. H. Fischbeck</name><name sortKey="Francke, U" sort="Francke, U" uniqKey="Francke U" first="U." last="Francke">U. Francke</name><name sortKey="Francke, U" sort="Francke, U" uniqKey="Francke U" first="U." last="Francke">U. Francke</name><name sortKey="Walker, A" sort="Walker, A" uniqKey="Walker A" first="A." last="Walker">A. Walker</name></country><country name="Belgique"><region name="Région flamande"><name sortKey="Van Broeckhoven, C" sort="Van Broeckhoven, C" uniqKey="Van Broeckhoven C" first="C." last="Van Broeckhoven">C. Van Broeckhoven</name></region><name sortKey="Poncin, J" sort="Poncin, J" uniqKey="Poncin J" first="J." last="Poncin">J. Poncin</name><name sortKey="Verellen, C" sort="Verellen, C" uniqKey="Verellen C" first="C." last="Verellen">C. Verellen</name></country><country name="Australie"><noRegion><name sortKey="Denton, M" sort="Denton, M" uniqKey="Denton M" first="M." last="Denton">M. Denton</name></noRegion><name sortKey="Denton, M" sort="Denton, M" uniqKey="Denton M" first="M." last="Denton">M. Denton</name></country><country name="Italie"><region name="Latium"><name sortKey="Felicetti, L" sort="Felicetti, L" uniqKey="Felicetti L" first="L." last="Felicetti">L. Felicetti</name></region><name sortKey="Covone, A E" sort="Covone, A E" uniqKey="Covone A" first="A. E." last="Covone">A. E. Covone</name><name sortKey="Galluzi, G" sort="Galluzi, G" uniqKey="Galluzi G" first="G." last="Galluzi">G. Galluzi</name><name sortKey="Romeo, G" sort="Romeo, G" uniqKey="Romeo G" first="G." last="Romeo">G. Romeo</name></country><country name="France"><region name="Île-de-France"><name sortKey="Gilgenkrantz, H" sort="Gilgenkrantz, H" uniqKey="Gilgenkrantz H" first="H." last="Gilgenkrantz">H. Gilgenkrantz</name></region><name sortKey="Boileau, C" sort="Boileau, C" uniqKey="Boileau C" first="C." last="Boileau">C. Boileau</name><name sortKey="Junien, C" sort="Junien, C" uniqKey="Junien C" first="C." last="Junien">C. Junien</name><name sortKey="Kaplan, J C" sort="Kaplan, J C" uniqKey="Kaplan J" first="J.-C." last="Kaplan">J.-C. Kaplan</name></country><country name="Allemagne"><noRegion><name sortKey="Herrmann, F H" sort="Herrmann, F H" uniqKey="Herrmann F" first="F. H." last="Herrmann">F. H. Herrmann</name></noRegion><name sortKey="Muller, C R" sort="Muller, C R" uniqKey="Muller C" first="C. R." last="Müller">C. R. Müller</name><name sortKey="Schroder, E" sort="Schroder, E" uniqKey="Schroder E" first="E." last="Schröder">E. Schröder</name></country><country name="Suisse"><region name="Canton de Berne"><name sortKey="Liechti Gallati, S" sort="Liechti Gallati, S" uniqKey="Liechti Gallati S" first="S." last="Liechti-Gallati">S. Liechti-Gallati</name></region></country><country name="Finlande"><region name="Uusimaa"><name sortKey="Lindlof, M" sort="Lindlof, M" uniqKey="Lindlof M" first="M." last="Lindlöf">M. Lindlöf</name></region></country><country name="Japon"><noRegion><name sortKey="Matsumoto, T" sort="Matsumoto, T" uniqKey="Matsumoto T" first="T." last="Matsumoto">T. Matsumoto</name></noRegion><name sortKey="Niikawa, N" sort="Niikawa, N" uniqKey="Niikawa N" first="N." last="Niikawa">N. Niikawa</name></country><country name="Danemark"><noRegion><name sortKey="Schwartz, M" sort="Schwartz, M" uniqKey="Schwartz M" first="M." last="Schwartz">M. Schwartz</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Worton, R" sort="Worton, R" uniqKey="Worton R" first="R." last="Worton">R. Worton</name></noRegion><name sortKey="Gillard, E" sort="Gillard, E" uniqKey="Gillard E" first="E." last="Gillard">E. Gillard</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= 242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread
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