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Article: Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

TitleIdentification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene
Authors
Keywordsgenetic disease
missense mutation
mutational hot spot
nonsense mutation
pancreatic function
Issue Date1990
PublisherNational Academy of Sciences. The Journal's web site is located at http://www.pnas.org
Citation
Proceedings Of The National Academy Of Sciences Of The United States Of America, 1990, v. 87 n. 21, p. 8447-8451 How to Cite?
AbstractAdditional mutations in the cystic fibrosis (CF) gene were identified in the regions corresponding to the two putative nucleotide (ATP)-binding folds (NBFs) of the predicted polypeptide. The patient cohort included 46 Canadian CF families with well-characterized DNA marker haplotypes spanning the disease locus and several other families from Israel. Eleven mutations were found in the first NBF, 2 were found in the second NBF, but none was found in the R-domain. Seven of the mutations were of the missense type affecting some of the highly conserved amino acid residues in the first NBF; 3 were nonsense mutations; 2 would probably affect mRNA splicing; 2 corresponded to small deletions, including another 3-base-pair deletion different from the major mutation (ΔF508), which could account for 70% of the CF chromosomes in the population. Nine of these mutations accounted for 12 of the 31 non-ΔF508 CF chromosomes in the Canadian families. The highly heterogeneous nature of the remaining CF mutations provides important insights into the structure and function of the protein, but is also suggests that DNA-based genetic screening for CF carrier status will not be straightforward.
Persistent Identifierhttp://hdl.handle.net/10722/44239
ISSN
2015 Impact Factor: 9.423
2015 SCImago Journal Rankings: 6.883
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorKerem, Ben_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorMarkiewicz, Den_HK
dc.contributor.authorBozon, Den_HK
dc.contributor.authorGazit, Een_HK
dc.contributor.authorYahav, Jen_HK
dc.contributor.authorKennedy, Den_HK
dc.contributor.authorRiordan, JRen_HK
dc.contributor.authorCollins, FSen_HK
dc.contributor.authorRommens, JMen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:49:40Z-
dc.date.available2007-09-12T03:49:40Z-
dc.date.issued1990en_HK
dc.identifier.citationProceedings Of The National Academy Of Sciences Of The United States Of America, 1990, v. 87 n. 21, p. 8447-8451en_HK
dc.identifier.issn0027-8424en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44239-
dc.description.abstractAdditional mutations in the cystic fibrosis (CF) gene were identified in the regions corresponding to the two putative nucleotide (ATP)-binding folds (NBFs) of the predicted polypeptide. The patient cohort included 46 Canadian CF families with well-characterized DNA marker haplotypes spanning the disease locus and several other families from Israel. Eleven mutations were found in the first NBF, 2 were found in the second NBF, but none was found in the R-domain. Seven of the mutations were of the missense type affecting some of the highly conserved amino acid residues in the first NBF; 3 were nonsense mutations; 2 would probably affect mRNA splicing; 2 corresponded to small deletions, including another 3-base-pair deletion different from the major mutation (ΔF508), which could account for 70% of the CF chromosomes in the population. Nine of these mutations accounted for 12 of the 31 non-ΔF508 CF chromosomes in the Canadian families. The highly heterogeneous nature of the remaining CF mutations provides important insights into the structure and function of the protein, but is also suggests that DNA-based genetic screening for CF carrier status will not be straightforward.en_HK
dc.languageengen_HK
dc.publisherNational Academy of Sciences. The Journal's web site is located at http://www.pnas.orgen_HK
dc.relation.ispartofProceedings of the National Academy of Sciences of the United States of Americaen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectgenetic diseaseen_HK
dc.subjectmissense mutationen_HK
dc.subjectmutational hot spoten_HK
dc.subjectnonsense mutationen_HK
dc.subjectpancreatic functionen_HK
dc.subject.meshGenetic diseaseen_HK
dc.subject.meshMissense mutationen_HK
dc.subject.meshNonsense mutationen_HK
dc.subject.meshMutational hot spoten_HK
dc.subject.meshPancreatic functionen_HK
dc.titleIdentification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis geneen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0027-8424&volume=87&issue=21&spage=8447&epage=8451&date=1990&atitle=Identification+of+mutations+in+regions+corresponding+to+the+2+putative+nucleotide+(ATP)-binding+folds+of+the+cystic+fibrosis+geneen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturepublished_or_final_version-
dc.identifier.pmid2236053-
dc.identifier.pmcidPMC54973-
dc.identifier.scopuseid_2-s2.0-0025133518en_HK
dc.identifier.volume87en_HK
dc.identifier.issue21en_HK
dc.identifier.spage8447en_HK
dc.identifier.epage8451en_HK
dc.identifier.isiWOS:A1990EG22000054-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridKerem, B=35376353800en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridMarkiewicz, D=7007146509en_HK
dc.identifier.scopusauthoridBozon, D=7003759305en_HK
dc.identifier.scopusauthoridGazit, E=7101668030en_HK
dc.identifier.scopusauthoridYahav, J=7004082405en_HK
dc.identifier.scopusauthoridKennedy, D=7403112289en_HK
dc.identifier.scopusauthoridRiordan, JR=7202229758en_HK
dc.identifier.scopusauthoridCollins, FS=7403031285en_HK
dc.identifier.scopusauthoridRommens, JM=7006884140en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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