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Article: Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation

TitleEvidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation
Authors
Issue Date1994
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 1994, v. 55 n. 1, p. 21-26 How to Cite?
AbstractSplit hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF and cytogenetically visible rearrangements of chromosome 7 at bands q21-q22 provides compelling evidence for the location of a causative gene at this location, and the locus has been designated SHFD1. In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21-q22 region. Combined genetic and physical data suggest that the order of markers in the SHFD1 critical region is cen-D7S492-D7S527-(D7S479- D7S491)-SHFD1-D7S554-D7S518-qter. Dinucleotide repeat polymorphisms at three of these loci were used to test for linkage of SHSF to this region in a large pedigree that demonstrates autosomal dominant SHSF. Evidence against linkage of the SHSF gene to 7q21-q22 was obtained in this pedigree. Therefore, combined molecular and genetic data provide evidence for locus heterogeneity in autosomal dominant SHSF. We propose the name SHSF2 for this second locus.
Persistent Identifierhttp://hdl.handle.net/10722/42302
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorPalmer, SEen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorKukolich, Men_HK
dc.contributor.authorWijsman, EMen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorStephens, Ken_HK
dc.contributor.authorEvans, JPen_HK
dc.date.accessioned2007-01-08T02:34:06Z-
dc.date.available2007-01-08T02:34:06Z-
dc.date.issued1994en_HK
dc.identifier.citationAmerican Journal Of Human Genetics, 1994, v. 55 n. 1, p. 21-26en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42302-
dc.description.abstractSplit hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF and cytogenetically visible rearrangements of chromosome 7 at bands q21-q22 provides compelling evidence for the location of a causative gene at this location, and the locus has been designated SHFD1. In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21-q22 region. Combined genetic and physical data suggest that the order of markers in the SHFD1 critical region is cen-D7S492-D7S527-(D7S479- D7S491)-SHFD1-D7S554-D7S518-qter. Dinucleotide repeat polymorphisms at three of these loci were used to test for linkage of SHSF to this region in a large pedigree that demonstrates autosomal dominant SHSF. Evidence against linkage of the SHSF gene to 7q21-q22 was obtained in this pedigree. Therefore, combined molecular and genetic data provide evidence for locus heterogeneity in autosomal dominant SHSF. We propose the name SHSF2 for this second locus.en_HK
dc.format.extent1745797 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.meshChromosome aberrations - geneticsen_HK
dc.subject.meshChromosome deletionen_HK
dc.subject.meshChromosome disordersen_HK
dc.subject.meshChromosomes, human, pair 7en_HK
dc.subject.meshFoot deformities, congenital - geneticsen_HK
dc.titleEvidence for locus heterogeneity in human autosomal dominant split hand/split foot malformationen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0002-9297&volume=55&issue=1&spage=21&epage=26&date=1994&atitle=Evidence+for+locus+heterogeneity+in+human+autosomal+dominant+split+hand/split+foot+malformationen_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.pmid7912888en_HK
dc.identifier.pmcidPMC1918225-
dc.identifier.scopuseid_2-s2.0-0028068465en_HK
dc.identifier.volume55en_HK
dc.identifier.issue1en_HK
dc.identifier.spage21en_HK
dc.identifier.epage26en_HK
dc.identifier.isiWOS:A1994NW46100004-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridPalmer, SE=7402329455en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridKukolich, M=6701448644en_HK
dc.identifier.scopusauthoridWijsman, EM=7004392227en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridStephens, K=7102077242en_HK
dc.identifier.scopusauthoridEvans, JP=35407131000en_HK

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