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Article: Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1

TitleFine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1
Authors
Issue Date1994
PublisherUniversity of Chicago Press. The Journal's web site is located at http://www.journals.uchicago.edu/AJHG
Citation
American journal of human genetics, 1994, v. 55 n. 1, p. 12-20 How to Cite?
AbstractSplit hand/split foot (SHFD) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft in the hands and feet. Cytogenetic studies of deletions and translocations associated with this disorder have indicated that an autosomal dominant split hand/split foot locus (gene SHFD1) maps to 7q21-q22. To characterize the SHFD1 locus, somatic cell hybrid lines were constructed from cytogenetically abnormal individuals with SHFD. Molecular analysis resulted in the localization of 93 DNA markers to one of 10 intervals surrounding the SHFD1 locus. The translocation breakpoints in four SHFD patients were encompassed by the smallest region of overlap among the SHfD-associated deletions. The order of DNA markers in the SHFD1 critical region has been defined as PON-D7S812-SHFD1-D7S811-ASNS. One DNA marker, D7S811, detected altered restriction enzyme fragments in three patients with translocations when examined by pulsed-field gel electrophoresis (PFGE). These data map SHFD1, a gene that is crucial for human limb differentiation, to a small interval in the q21.3-q22.1 region of human chromosome 7.
Persistent Identifierhttp://hdl.handle.net/10722/42301
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorPoorkaj, Pen_HK
dc.contributor.authorAllen, Ten_HK
dc.contributor.authorKim, Jen_HK
dc.contributor.authorGeshuri, Den_HK
dc.contributor.authorNunes, Men_HK
dc.contributor.authorSoder, Sen_HK
dc.contributor.authorStephens, Ken_HK
dc.contributor.authorPagon, RAen_HK
dc.contributor.authorPatton, MAen_HK
dc.contributor.authorBerg, MAen_HK
dc.contributor.authorDonlon, Ten_HK
dc.contributor.authorRivera, Hen_HK
dc.contributor.authorPfeiffer, RAen_HK
dc.contributor.authorNaritomi, Ken_HK
dc.contributor.authorHughes, Hen_HK
dc.contributor.authorGenuardi, Men_HK
dc.contributor.authorGurrieri, Fen_HK
dc.contributor.authorNeri, Gen_HK
dc.contributor.authorLovrein, Een_HK
dc.contributor.authorMagenis, Een_HK
dc.contributor.authorTsui, L-Cen_HK
dc.contributor.authorEvans, JPen_HK
dc.date.accessioned2007-01-08T02:34:05Z-
dc.date.available2007-01-08T02:34:05Z-
dc.date.issued1994en_HK
dc.identifier.citationAmerican journal of human genetics, 1994, v. 55 n. 1, p. 12-20en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42301-
dc.description.abstractSplit hand/split foot (SHFD) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft in the hands and feet. Cytogenetic studies of deletions and translocations associated with this disorder have indicated that an autosomal dominant split hand/split foot locus (gene SHFD1) maps to 7q21-q22. To characterize the SHFD1 locus, somatic cell hybrid lines were constructed from cytogenetically abnormal individuals with SHFD. Molecular analysis resulted in the localization of 93 DNA markers to one of 10 intervals surrounding the SHFD1 locus. The translocation breakpoints in four SHFD patients were encompassed by the smallest region of overlap among the SHfD-associated deletions. The order of DNA markers in the SHFD1 critical region has been defined as PON-D7S812-SHFD1-D7S811-ASNS. One DNA marker, D7S811, detected altered restriction enzyme fragments in three patients with translocations when examined by pulsed-field gel electrophoresis (PFGE). These data map SHFD1, a gene that is crucial for human limb differentiation, to a small interval in the q21.3-q22.1 region of human chromosome 7.en_HK
dc.format.extent2245373 bytes-
dc.format.extent30208 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.languageengen_HK
dc.publisherUniversity of Chicago Press. The Journal's web site is located at http://www.journals.uchicago.edu/AJHGen_HK
dc.rightsAmerican journal of human genetics. Copyright © University of Chicago Press.en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshChromosome aberrations - geneticsen_HK
dc.subject.meshChromosome deletionen_HK
dc.subject.meshChromosome disordersen_HK
dc.subject.meshChromosome mappingen_HK
dc.subject.meshChromosomes, human, pair 7en_HK
dc.titleFine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0002-9297&volume=55&issue=1&spage=12&epage=20&date=1994&atitle=Fine+mapping+of+the+autosomal+dominant+split+hand/split+foot+locus+on+chromosome+7,+band+q21.3-q22.1en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid8023840-
dc.identifier.pmcidPMC1918243-
dc.identifier.scopuseid_2-s2.0-84876816454-
dc.identifier.isiWOS:A1994NW46100003-

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