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Article: Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation
Title | Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation |
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Authors | |
Issue Date | 1994 |
Publisher | Cell 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? |
Abstract | Split 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 Identifier | http://hdl.handle.net/10722/42302 |
ISSN | 2023 Impact Factor: 8.1 2023 SCImago Journal Rankings: 4.516 |
PubMed Central ID | |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Palmer, SE | en_HK |
dc.contributor.author | Scherer, SW | en_HK |
dc.contributor.author | Kukolich, M | en_HK |
dc.contributor.author | Wijsman, EM | en_HK |
dc.contributor.author | Tsui, LC | en_HK |
dc.contributor.author | Stephens, K | en_HK |
dc.contributor.author | Evans, JP | en_HK |
dc.date.accessioned | 2007-01-08T02:34:06Z | - |
dc.date.available | 2007-01-08T02:34:06Z | - |
dc.date.issued | 1994 | en_HK |
dc.identifier.citation | American Journal Of Human Genetics, 1994, v. 55 n. 1, p. 21-26 | en_HK |
dc.identifier.issn | 0002-9297 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/42302 | - |
dc.description.abstract | Split 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.extent | 1745797 bytes | - |
dc.format.extent | 30208 bytes | - |
dc.format.mimetype | application/pdf | - |
dc.format.mimetype | application/msword | - |
dc.language | eng | en_HK |
dc.publisher | Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/ | en_HK |
dc.relation.ispartof | American Journal of Human Genetics | en_HK |
dc.rights | American journal of human genetics. Copyright © University of Chicago Press. | en_HK |
dc.subject.mesh | Chromosome aberrations - genetics | en_HK |
dc.subject.mesh | Chromosome deletion | en_HK |
dc.subject.mesh | Chromosome disorders | en_HK |
dc.subject.mesh | Chromosomes, human, pair 7 | en_HK |
dc.subject.mesh | Foot deformities, congenital - genetics | en_HK |
dc.title | Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://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+malformation | en_HK |
dc.identifier.email | Tsui, LC: tsuilc@hkucc.hku.hk | en_HK |
dc.identifier.authority | Tsui, LC=rp00058 | en_HK |
dc.description.nature | published_or_final_version | en_HK |
dc.identifier.pmid | 7912888 | en_HK |
dc.identifier.pmcid | PMC1918225 | - |
dc.identifier.scopus | eid_2-s2.0-0028068465 | en_HK |
dc.identifier.volume | 55 | en_HK |
dc.identifier.issue | 1 | en_HK |
dc.identifier.spage | 21 | en_HK |
dc.identifier.epage | 26 | en_HK |
dc.identifier.isi | WOS:A1994NW46100004 | - |
dc.publisher.place | United States | en_HK |
dc.identifier.scopusauthorid | Palmer, SE=7402329455 | en_HK |
dc.identifier.scopusauthorid | Scherer, SW=35374654500 | en_HK |
dc.identifier.scopusauthorid | Kukolich, M=6701448644 | en_HK |
dc.identifier.scopusauthorid | Wijsman, EM=7004392227 | en_HK |
dc.identifier.scopusauthorid | Tsui, LC=7102754167 | en_HK |
dc.identifier.scopusauthorid | Stephens, K=7102077242 | en_HK |
dc.identifier.scopusauthorid | Evans, JP=35407131000 | en_HK |
dc.identifier.issnl | 0002-9297 | - |