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Article: Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient

TitleIdentification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient
Authors
Issue Date1995
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 1995, v. 56 n. 6, p. 1411-1416 How to Cite?
AbstractSmith-Lemli-Opitz syndrome (SLOS) is a mental retardation/multiple congenital anomaly syndrome. The gene(s) involved has not been mapped or cloned, but, recently, a biochemical abnormality in cholesterol biosynthesis has been shown to occur in most SLOS patients. The defect is suspected to occur in the penultimate step of the cholesterol pathway, involving the enzyme 7-dehydrocholesterol reductase, which has not been isolated. On the basis of the hypothesis that a de novo balanced translocation [t(7;20)(q32.1;q13.2)] in an SLOS patient directly interrupts the SLOS gene, positional cloning techniques are being employed to localize and identify the SLOS gene. We report the identification of a chromosome 7-specific YAC that spans the translocation breakpoint, as detected by FISH. This is the first study narrowing a candidate SLOS region and placing it on physical and genetic maps of the human genome.
Persistent Identifierhttp://hdl.handle.net/10722/42304
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorAlley, TLen_HK
dc.contributor.authorGray, BAen_HK
dc.contributor.authorLee, SHen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorTint, GSen_HK
dc.contributor.authorWilliams, CAen_HK
dc.contributor.authorZori, Ren_HK
dc.contributor.authorWallace, MRen_HK
dc.date.accessioned2007-01-08T02:34:08Z-
dc.date.available2007-01-08T02:34:08Z-
dc.date.issued1995en_HK
dc.identifier.citationAmerican Journal Of Human Genetics, 1995, v. 56 n. 6, p. 1411-1416en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42304-
dc.description.abstractSmith-Lemli-Opitz syndrome (SLOS) is a mental retardation/multiple congenital anomaly syndrome. The gene(s) involved has not been mapped or cloned, but, recently, a biochemical abnormality in cholesterol biosynthesis has been shown to occur in most SLOS patients. The defect is suspected to occur in the penultimate step of the cholesterol pathway, involving the enzyme 7-dehydrocholesterol reductase, which has not been isolated. On the basis of the hypothesis that a de novo balanced translocation [t(7;20)(q32.1;q13.2)] in an SLOS patient directly interrupts the SLOS gene, positional cloning techniques are being employed to localize and identify the SLOS gene. We report the identification of a chromosome 7-specific YAC that spans the translocation breakpoint, as detected by FISH. This is the first study narrowing a candidate SLOS region and placing it on physical and genetic maps of the human genome.en_HK
dc.format.extent1097674 bytes-
dc.format.extent30208 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.languageengen_HK
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/en_HK
dc.relation.ispartofAmerican Journal of Human Geneticsen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsAmerican journal of human genetics. Copyright © University of Chicago Press.en_HK
dc.subject.meshAbnormalities, multiple - diagnosis - geneticsen_HK
dc.subject.meshCholesterol - blooden_HK
dc.subject.meshChromosome mappingen_HK
dc.subject.meshChromosomes, artificial, yeasten_HK
dc.subject.meshChromosomes, human, pair 7 - geneticsen_HK
dc.titleIdentification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patienten_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0002-9297&volume=56&issue=6&spage=1411&epage=1416&date=1995&atitle=Identification+of+a+yeast+artificial+chromosome+clone+spanning+a+translocation+breakpoint+at+7q32.1+in+a+Smith-Lemli-Opitz+syndrome+patienten_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid7762564-
dc.identifier.pmcidPMC1801101-
dc.identifier.scopuseid_2-s2.0-0029001294en_HK
dc.identifier.volume56en_HK
dc.identifier.issue6en_HK
dc.identifier.spage1411en_HK
dc.identifier.epage1416en_HK
dc.identifier.isiWOS:A1995RA79400020-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridAlley, TL=7004212249en_HK
dc.identifier.scopusauthoridGray, BA=7202782503en_HK
dc.identifier.scopusauthoridLee, SH=7601419399en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridTint, GS=7005174895en_HK
dc.identifier.scopusauthoridWilliams, CA=7406213862en_HK
dc.identifier.scopusauthoridZori, R=7003576449en_HK
dc.identifier.scopusauthoridWallace, MR=14326167000en_HK

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