A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes
Identifieur interne : 00DB08 ( Main/Exploration ); précédent : 00DB07; suivant : 00DB09A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes
Auteurs : Ann P. Walker [Suisse] ; Jamel Chelly [Suisse] ; Donald R. Love [Royaume-Uni] ; Yumiko Ishikawa Brush [Suisse] ; Dominique Récan [France] ; Jean-Louis Chaussain [France] ; Christine A. Oley [Australie, Royaume-Uni] ; J. Michael Connor ; John Yates ; David A. Price [Royaume-Uni] ; Maurice Super [Royaume-Uni] ; Armand Bottani [Suisse] ; Beat Steinman [Suisse] ; Jean-Claude Kaplan [France] ; Kay E. Davies [Royaume-Uni] ; Anthony P. Monaco [Suisse]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 1992-10.
Abstract
The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular dystrophy (DMD), and proximal to DXS28 (C7), by analysis of patient deletions. We have constructed a yeast artificial chromosome (YAC) contig encompassing a 1.2 Mb region extending distally from DMD, and containing DXS708 (JC-1), the distal junction clone of a patient with GK and DMD. A pulsed-field gel electrophoresis map of the YAC contig identified 3 potential CpG islands. Whole YAC hybridization identified cosmids both for construction of cosmid contigs, and isolation of single copy probes. Thirteen new single copy probes and DXS28 and DXS708 were hybridized on a panel of patients; the deletion mapping indicates that the YAC contig contains both GK and at least part of AHC, and together with the physical map defines a GK critical region of 50–250 kb. In one AHC patient with a cytogenetically detectable deletion we used the new probes to characterize a complex double deletion. Non-overlapping deletions observed in other unrelated AHC patients indicate that the AHC gene is large, extending over at least 200–500 kb. This mapping provides the basis for the identification of the AHC and GK genes.
Url:
DOI: 10.1093/hmg/1.8.579
Affiliations:
- Australie, France, Royaume-Uni, Suisse
- Angleterre, Angleterre de l'Est, Île-de-France
- Cambridge, Paris
- Université de Cambridge
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Davies</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Genetics Group, Institute of Molecular Medicine, John Radcliffe Hospital Oxford OX3 9DU</wicri:regionArea><wicri:noRegion>John Radcliffe Hospital Oxford OX3 9DU</wicri:noRegion></affiliation></author><author><name sortKey="Monaco, Anthony P" sort="Monaco, Anthony P" uniqKey="Monaco A" first="Anthony P." last="Monaco">Anthony P. Monaco</name><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>ICRF Laboratories, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DU, UK, Oxford OX3 9DU, UK, 75014 Paris, 75014 Paris, France, South Brisbane, Queensland 4101, Australia, Glasgow G3 8SJ, Cambridge CB2 1QP, Pendlebury, Manchester M27 1HA, UK, Zurich, CH-8032 Zurich</wicri:regionArea><wicri:noRegion>CH-8032 Zurich</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="1992-10">1992-10</date><biblScope unit="volume">1</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="579">579</biblScope><biblScope unit="page" to="585">585</biblScope></imprint><idno type="ISSN">0964-6906</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular dystrophy (DMD), and proximal to DXS28 (C7), by analysis of patient deletions. We have constructed a yeast artificial chromosome (YAC) contig encompassing a 1.2 Mb region extending distally from DMD, and containing DXS708 (JC-1), the distal junction clone of a patient with GK and DMD. A pulsed-field gel electrophoresis map of the YAC contig identified 3 potential CpG islands. Whole YAC hybridization identified cosmids both for construction of cosmid contigs, and isolation of single copy probes. Thirteen new single copy probes and DXS28 and DXS708 were hybridized on a panel of patients; the deletion mapping indicates that the YAC contig contains both GK and at least part of AHC, and together with the physical map defines a GK critical region of 50–250 kb. In one AHC patient with a cytogenetically detectable deletion we used the new probes to characterize a complex double deletion. Non-overlapping deletions observed in other unrelated AHC patients indicate that the AHC gene is large, extending over at least 200–500 kb. This mapping provides the basis for the identification of the AHC and GK genes.</div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li><li>Royaume-Uni</li><li>Suisse</li></country><region><li>Angleterre</li><li>Angleterre de l'Est</li><li>Île-de-France</li></region><settlement><li>Cambridge</li><li>Paris</li></settlement><orgName><li>Université de Cambridge</li></orgName></list><tree><noCountry><name sortKey="Connor, J Michael" sort="Connor, J Michael" uniqKey="Connor J" first="J. Michael" last="Connor">J. Michael Connor</name><name sortKey="Yates, John" sort="Yates, John" uniqKey="Yates J" first="John" last="Yates">John Yates</name></noCountry><country name="Suisse"><noRegion><name sortKey="Walker, Ann P" sort="Walker, Ann P" uniqKey="Walker A" first="Ann P." last="Walker">Ann P. Walker</name></noRegion><name sortKey="Bottani, Armand" sort="Bottani, Armand" uniqKey="Bottani A" first="Armand" last="Bottani">Armand Bottani</name><name sortKey="Bottani, Armand" sort="Bottani, Armand" uniqKey="Bottani A" first="Armand" last="Bottani">Armand Bottani</name><name sortKey="Brush, Yumiko Ishikawa" sort="Brush, Yumiko Ishikawa" uniqKey="Brush Y" first="Yumiko Ishikawa" last="Brush">Yumiko Ishikawa Brush</name><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><name sortKey="Monaco, Anthony P" sort="Monaco, Anthony P" uniqKey="Monaco A" first="Anthony P." last="Monaco">Anthony P. Monaco</name><name sortKey="Steinman, Beat" sort="Steinman, Beat" uniqKey="Steinman B" first="Beat" last="Steinman">Beat Steinman</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Love, Donald R" sort="Love, Donald R" uniqKey="Love D" first="Donald R." last="Love">Donald R. Love</name></noRegion><name sortKey="Davies, Kay E" sort="Davies, Kay E" uniqKey="Davies K" first="Kay E." last="Davies">Kay E. Davies</name><name sortKey="Love, Donald R" sort="Love, Donald R" uniqKey="Love D" first="Donald R." last="Love">Donald R. Love</name><name sortKey="Oley, Christine A" sort="Oley, Christine A" uniqKey="Oley C" first="Christine A." last="Oley">Christine A. Oley</name><name sortKey="Price, David A" sort="Price, David A" uniqKey="Price D" first="David A." last="Price">David A. Price</name><name sortKey="Super, Maurice" sort="Super, Maurice" uniqKey="Super M" first="Maurice" last="Super">Maurice Super</name></country><country name="France"><region name="Île-de-France"><name sortKey="Recan, Dominique" sort="Recan, Dominique" uniqKey="Recan D" first="Dominique" last="Récan">Dominique Récan</name></region><name sortKey="Chaussain, Jean Louis" sort="Chaussain, Jean Louis" uniqKey="Chaussain J" first="Jean-Louis" last="Chaussain">Jean-Louis Chaussain</name><name sortKey="Kaplan, Jean Claude" sort="Kaplan, Jean Claude" uniqKey="Kaplan J" first="Jean-Claude" last="Kaplan">Jean-Claude Kaplan</name></country><country name="Australie"><noRegion><name sortKey="Oley, Christine A" sort="Oley, Christine A" uniqKey="Oley C" first="Christine A." last="Oley">Christine A. Oley</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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