Current status of human chromosome 14
Identifieur interne : 005956 ( Istex/Corpus ); précédent : 005955; suivant : 005957Current status of human chromosome 14
Auteurs : D. Kamnasaran ; D W CoxSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2002-02.
English descriptors
- KwdEn :
Abstract
Over the past three decades, extensive genetic, physical, transcript, and sequence maps have assisted in the mapping of over 30 genetic diseases and in the identification of over 550 genes on human chromosome 14. Additional genetic disorders were assigned to chromosome 14 by studying either constitutional or acquired chromosome aberrations of affected subjects. Studies of benign and malignant tumours by karyotype analyses and by allelotyping with a panel of polymorphic genetic markers have further suggested the presence of several tumour suppressor loci on chromosome 14. The search for disease genes on human chromosome 14 has also been achieved by exploiting the human-mouse comparative maps. Research on uniparental disomy and on the search for imprinted genes has supported evidence of epigenetic inheritance as a result of imprinting on human chromosome 14. This review focuses on the current developments on human chromosome 14 with respect to genetic maps, physical maps, transcript maps, sequence maps, genes, diseases, mouse-human comparative maps, and imprinting.
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DOI: 10.1136/jmg.39.2.81
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<kwd-group kwd-group-type="ABR" xml:lang="en"><kwd>STRP, short tandem repeat polymorphism</kwd>
<kwd>OLA, oligonucleotide ligation assay</kwd>
<kwd>SNP, single nucleotide polymorphism</kwd>
<kwd>STS, sequence tagged site</kwd>
<kwd>EST, expressed sequence tag</kwd>
<kwd>LOH, loss of heterozygosity</kwd>
<kwd>TS, tumour suppressor</kwd>
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<mods version="3.6"><titleInfo lang="en"><title>Current status of human chromosome 14</title>
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<titleInfo type="alternative" lang="en" contentType="CDATA"><title>Current status of human chromosome 14</title>
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<name type="personal"><namePart type="given">D</namePart>
<namePart type="family">Kamnasaran</namePart>
<affiliation>Department of Medical Genetics, University of Alberta, Edmonton, Alberta T6G 2H7, Canada</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">D W</namePart>
<namePart type="family">Cox</namePart>
<affiliation>Department of Medical Genetics, University of Alberta, Edmonton, Alberta T6G 2H7, Canada</affiliation>
<role><roleTerm type="text">author</roleTerm>
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<typeOfResource>text</typeOfResource>
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<subject><genre>hwp-journal-coll</genre>
<topic>Clinical genetics</topic>
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<subject><genre>hwp-journal-coll</genre>
<topic>Molecular genetics</topic>
</subject>
<originInfo><publisher>BMJ Publishing Group Ltd</publisher>
<dateIssued encoding="w3cdtf">2002-02</dateIssued>
<dateCreated encoding="w3cdtf">2002-02-01</dateCreated>
<copyrightDate encoding="w3cdtf">2002</copyrightDate>
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<abstract lang="en">Over the past three decades, extensive genetic, physical, transcript, and sequence maps have assisted in the mapping of over 30 genetic diseases and in the identification of over 550 genes on human chromosome 14. Additional genetic disorders were assigned to chromosome 14 by studying either constitutional or acquired chromosome aberrations of affected subjects. Studies of benign and malignant tumours by karyotype analyses and by allelotyping with a panel of polymorphic genetic markers have further suggested the presence of several tumour suppressor loci on chromosome 14. The search for disease genes on human chromosome 14 has also been achieved by exploiting the human-mouse comparative maps. Research on uniparental disomy and on the search for imprinted genes has supported evidence of epigenetic inheritance as a result of imprinting on human chromosome 14. This review focuses on the current developments on human chromosome 14 with respect to genetic maps, physical maps, transcript maps, sequence maps, genes, diseases, mouse-human comparative maps, and imprinting.</abstract>
<note type="author-notes">Correspondence to:
Dr D W Cox, 8-39 Medical Sciences Building, University of Alberta Edmonton, Alberta T6G 2H7, Canada;
diane.cox@ualberta.ca</note>
<subject lang="en"><genre>KWD</genre>
<topic>chromosome 14</topic>
<topic>imprinting</topic>
<topic>cancer</topic>
<topic>comparative maps</topic>
</subject>
<subject lang="en"><genre>ABR</genre>
<topic>STRP, short tandem repeat polymorphism</topic>
<topic>OLA, oligonucleotide ligation assay</topic>
<topic>SNP, single nucleotide polymorphism</topic>
<topic>STS, sequence tagged site</topic>
<topic>EST, expressed sequence tag</topic>
<topic>LOH, loss of heterozygosity</topic>
<topic>TS, tumour suppressor</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Journal of Medical Genetics</title>
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<titleInfo type="abbreviated"><title>J Med Genet</title>
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<genre type="journal">journal</genre>
<identifier type="ISSN">0022-2593</identifier>
<identifier type="eISSN">1468-6244</identifier>
<identifier type="PublisherID-hwp">jmedgenet</identifier>
<identifier type="PublisherID-nlm-ta">J Med Genet</identifier>
<part><date>2002</date>
<detail type="volume"><caption>vol.</caption>
<number>39</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>2</number>
</detail>
<extent unit="pages"><start>81</start>
</extent>
</part>
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<identifier type="istex">BE54F1528AACB1496332C9722FFDAA5A6593502C</identifier>
<identifier type="DOI">10.1136/jmg.39.2.81</identifier>
<identifier type="href">jmedgenet-39-81.pdf</identifier>
<identifier type="PMID">11836355</identifier>
<identifier type="local">0390081</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright 2002 Journal of Medical Genetics</accessCondition>
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