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Article: Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31

TitlePositional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31
Authors
Issue Date1996
PublisherCold Spring Harbor Laboratory Press.
Citation
Genome Research, 1996, v. 6 n. 3, p. 202-210 How to Cite?
AbstractCongenital chloride diarrhea affects intestinal transportation of electrolytes, resulting in potentially fatal diarrhea. Linkage disequilibrium analyses have suggested the congenital chloride diarrhea gene (CLD) to lie within 0.37 cM from D7S496 in human chromosome 7q31. To clone the CLD gene, we have constructed and refined a physical map based on a 2.7-Mb YAC contig around D7S496 and identified two candidate genes. The physical positions of 4 known genes (DRA, PRKAR2B, LAMB1, DLD), 7 polymorphic repeat markers, and 13 CpG islands were established. DRA (down-regulated in adenoma) is expressed in the gut and encodes a protein with sequence homology to anion transporters, whereas PRKAR2B encodes a regulatory subunit for protein kinase A. Both genes map within 450 kb from D7S496, making them functionally and positionally relevant candidates for CLD.
Persistent Identifierhttp://hdl.handle.net/10722/44295
ISSN
1998 Impact Factor: 7.712
Other Identifiers
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorHöglund, Pen_HK
dc.contributor.authorHaila, Sen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorGreen, EDen_HK
dc.contributor.authorWeissenbach, Jen_HK
dc.contributor.authorHolmberg, Cen_HK
dc.contributor.authorDe La Chapelle, Aen_HK
dc.contributor.authorKere, Jen_HK
dc.date.accessioned2007-09-12T03:50:50Z-
dc.date.available2007-09-12T03:50:50Z-
dc.date.issued1996en_HK
dc.identifierhttp://www.genome.org/cgi/reprint/6/3/202.pdfen_HK
dc.identifier.citationGenome Research, 1996, v. 6 n. 3, p. 202-210en_HK
dc.identifier.issn1054-9803en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44295-
dc.description.abstractCongenital chloride diarrhea affects intestinal transportation of electrolytes, resulting in potentially fatal diarrhea. Linkage disequilibrium analyses have suggested the congenital chloride diarrhea gene (CLD) to lie within 0.37 cM from D7S496 in human chromosome 7q31. To clone the CLD gene, we have constructed and refined a physical map based on a 2.7-Mb YAC contig around D7S496 and identified two candidate genes. The physical positions of 4 known genes (DRA, PRKAR2B, LAMB1, DLD), 7 polymorphic repeat markers, and 13 CpG islands were established. DRA (down-regulated in adenoma) is expressed in the gut and encodes a protein with sequence homology to anion transporters, whereas PRKAR2B encodes a regulatory subunit for protein kinase A. Both genes map within 450 kb from D7S496, making them functionally and positionally relevant candidates for CLD.en_HK
dc.languageengen_HK
dc.publisherCold Spring Harbor Laboratory Press.en_HK
dc.relation.ispartofGenome Researchen_HK
dc.subject.meshAbnormalities - geneticsen_HK
dc.subject.meshChlorides - metabolismen_HK
dc.subject.meshChromosome Mappingen_HK
dc.subject.meshChromosomes, Human, Pair 7 - geneticsen_HK
dc.subject.meshDiarrhea - congenital - geneticsen_HK
dc.titlePositional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31en_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_OA_fulltexten_HK
dc.identifier.doi10.1101/gr.6.3.202-
dc.identifier.pmid8963897en_HK
dc.identifier.scopuseid_2-s2.0-0030003619en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030003619&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume6en_HK
dc.identifier.issue3en_HK
dc.identifier.spage202en_HK
dc.identifier.epage210en_HK
dc.identifier.isiWOS:A1996UD14600005-
dc.identifier.scopusauthoridHöglund, P=7006642223en_HK
dc.identifier.scopusauthoridHaila, S=6507380647en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridGreen, ED=7201576916en_HK
dc.identifier.scopusauthoridWeissenbach, J=7103101117en_HK
dc.identifier.scopusauthoridHolmberg, C=7103388071en_HK
dc.identifier.scopusauthoridDe La Chapelle, A=35393340400en_HK
dc.identifier.scopusauthoridKere, J=7005922099en_HK

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