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Article: A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

TitleA cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Authors
Issue Date1991
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 1991, v. 49 n. 6, p. 1256-1262 How to Cite?
AbstractA cluster of highly polymorphic dinucleotide repeats has been detected in intron 17b of the CFTR gene, 200 bp downstream from the preceding exon. At least 24 alleles, with sizes ranging from 7 to 56 units of a TA repeat, have been identified in a panel of 92 unrelated carriers of cystic fibrosis (CF). The common ones are those with 7, 30, and 31 dinucleotide units, with frequencies of .22, .19, and .12, respectively, among the non-CF chromosomes. Mendelian, codominant segregation of the alleles has been demonstrated in family studies, as expected. A less polymorphic dinucleotide (CA repeat) cluster has also been detected in a region 167 bp downstream from the TA repeat. The length of the CA repeat cluster varies from 11 to 17 dinucleotide units, and it appears to have an inverse relationship to that of the TA repeats. These dinucleotide repeats should be useful in genetic linkage studies, in counseling for CF families with unknown mutations, and in tracing the origins of the various mutant CF alleles.
Persistent Identifierhttp://hdl.handle.net/10722/42297
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorMarkiewicz, Den_HK
dc.contributor.authorRininsland, Fen_HK
dc.contributor.authorRommens, Jen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-01-08T02:33:59Z-
dc.date.available2007-01-08T02:33:59Z-
dc.date.issued1991en_HK
dc.identifier.citationAmerican Journal Of Human Genetics, 1991, v. 49 n. 6, p. 1256-1262en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42297-
dc.description.abstractA cluster of highly polymorphic dinucleotide repeats has been detected in intron 17b of the CFTR gene, 200 bp downstream from the preceding exon. At least 24 alleles, with sizes ranging from 7 to 56 units of a TA repeat, have been identified in a panel of 92 unrelated carriers of cystic fibrosis (CF). The common ones are those with 7, 30, and 31 dinucleotide units, with frequencies of .22, .19, and .12, respectively, among the non-CF chromosomes. Mendelian, codominant segregation of the alleles has been demonstrated in family studies, as expected. A less polymorphic dinucleotide (CA repeat) cluster has also been detected in a region 167 bp downstream from the TA repeat. The length of the CA repeat cluster varies from 11 to 17 dinucleotide units, and it appears to have an inverse relationship to that of the TA repeats. These dinucleotide repeats should be useful in genetic linkage studies, in counseling for CF families with unknown mutations, and in tracing the origins of the various mutant CF alleles.en_HK
dc.format.extent1607743 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.meshAdenine nucleotidesen_HK
dc.subject.meshCystic fibrosis - geneticsen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulatoren_HK
dc.subject.meshCytosine nucleotidesen_HK
dc.subject.meshIntronsen_HK
dc.titleA cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) geneen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0002-9297&volume=49&issue=6&spage=1256&epage=1262&date=1991&atitle=A+cluster+of+highly+polymorphic+dinucleotide+repeats+in+intron+17b+of+the+cystic+fibrosis+transmembrane+conductance+regulator+(CFTR)+geneen_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.pmid1720926-
dc.identifier.pmcidPMC1686454-
dc.identifier.scopuseid_2-s2.0-0026332706en_HK
dc.identifier.volume49en_HK
dc.identifier.issue6en_HK
dc.identifier.spage1256en_HK
dc.identifier.epage1262en_HK
dc.identifier.isiWOS:A1991GU67200012-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridMarkiewicz, D=7007146509en_HK
dc.identifier.scopusauthoridRininsland, F=6601973895en_HK
dc.identifier.scopusauthoridRommens, J=7006884140en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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