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Article: Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families

TitleIntra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families
Authors
Issue Date1992
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 1992, v. 88 n. 4, p. 417-425 How to Cite?
AbstractIn order to facilitate the screening for the less common mutations in the cystic fibrosis (CF) gene viz., the CF transmembrane conductance regulator gene (CFTR), marker haplotypes were determined for German nonCF (N) and CF chromosomes by polymerase chain reaction analysis of four polymorphisms upstream of the CF gene (XV-2c, KM.l9, MP6-D9, J44) and six intragenic polymorphisms (GATT, TUB9, M470V, T854T, TUB18, TUB20) that span the CFTR gene from exon 6 through exon 21. Novel informative sequence variants of CFTR were detected in front of exons 10 (1525-61 A or G), 19 (3601-65 C or A), and 21 (4006-200 A or G). The CF locus exhibits strong long-range marker-marker linkage disequilibrium with breakpoints of recombination between XV-2c and KM.l9, and between exons 10 and 19 of CFTR. Marker alleles of GATT-TUB9 and TUB18-TUB20 were found to be in absolute linkage disequilibrium. Four major haplotypes encompass more than 90% of German N and CF chromosomes. Fifteen CFTR mutations detected on 421 out of 500 CF chromosomes were each identified on one of these four predominant 7-marker haplotypes. Whereas all analysed ΔF508 chromosomes carried the same KM.l9-D9-J44-GATT-TUB9-M470V-T854T haplotype, another frequent mutation in Germany, R553X, was identified on two different major haplotypes. Hence, a priori haplotyping cannot exclude a particular CF mutation, but in combination with population genetic data, enables mutations to be ranked by decreasing probability.
Persistent Identifierhttp://hdl.handle.net/10722/44251
ISSN
2015 Impact Factor: 5.138
2015 SCImago Journal Rankings: 2.931
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorDork, Ten_HK
dc.contributor.authorNeumann, Ten_HK
dc.contributor.authorWulbrand, Uen_HK
dc.contributor.authorWulf, Ben_HK
dc.contributor.authorKalin, Nen_HK
dc.contributor.authorMaass, Gen_HK
dc.contributor.authorKrawczak, Men_HK
dc.contributor.authorGuillermit, Hen_HK
dc.contributor.authorFerec, Cen_HK
dc.contributor.authorHorn, Gen_HK
dc.contributor.authorKlinger, Ken_HK
dc.contributor.authorKerem, BSen_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorTummler, Ben_HK
dc.date.accessioned2007-09-12T03:49:55Z-
dc.date.available2007-09-12T03:49:55Z-
dc.date.issued1992en_HK
dc.identifier.citationHuman Genetics, 1992, v. 88 n. 4, p. 417-425en_HK
dc.identifier.issn0340-6717en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44251-
dc.description.abstractIn order to facilitate the screening for the less common mutations in the cystic fibrosis (CF) gene viz., the CF transmembrane conductance regulator gene (CFTR), marker haplotypes were determined for German nonCF (N) and CF chromosomes by polymerase chain reaction analysis of four polymorphisms upstream of the CF gene (XV-2c, KM.l9, MP6-D9, J44) and six intragenic polymorphisms (GATT, TUB9, M470V, T854T, TUB18, TUB20) that span the CFTR gene from exon 6 through exon 21. Novel informative sequence variants of CFTR were detected in front of exons 10 (1525-61 A or G), 19 (3601-65 C or A), and 21 (4006-200 A or G). The CF locus exhibits strong long-range marker-marker linkage disequilibrium with breakpoints of recombination between XV-2c and KM.l9, and between exons 10 and 19 of CFTR. Marker alleles of GATT-TUB9 and TUB18-TUB20 were found to be in absolute linkage disequilibrium. Four major haplotypes encompass more than 90% of German N and CF chromosomes. Fifteen CFTR mutations detected on 421 out of 500 CF chromosomes were each identified on one of these four predominant 7-marker haplotypes. Whereas all analysed ΔF508 chromosomes carried the same KM.l9-D9-J44-GATT-TUB9-M470V-T854T haplotype, another frequent mutation in Germany, R553X, was identified on two different major haplotypes. Hence, a priori haplotyping cannot exclude a particular CF mutation, but in combination with population genetic data, enables mutations to be ranked by decreasing probability.en_HK
dc.languageengen_HK
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_HK
dc.relation.ispartofHuman Geneticsen_HK
dc.rightsThe original publication is available at www.springerlink.comen_HK
dc.subject.meshCystic fibrosis - blood - geneticsen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulatoren_HK
dc.subject.meshDna - blood - genetics - isolation & purificationen_HK
dc.subject.meshHaplotypesen_HK
dc.subject.meshMembrane proteins - geneticsen_HK
dc.titleIntra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis familiesen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1007/BF00215676en_HK
dc.identifier.pmid1371263-
dc.identifier.scopuseid_2-s2.0-0026551786en_HK
dc.identifier.volume88en_HK
dc.identifier.issue4en_HK
dc.identifier.spage417en_HK
dc.identifier.epage425en_HK
dc.identifier.isiWOS:A1992HE63100010-
dc.publisher.placeGermanyen_HK
dc.identifier.scopusauthoridDork, T=7007100340en_HK
dc.identifier.scopusauthoridNeumann, T=7102979192en_HK
dc.identifier.scopusauthoridWulbrand, U=6602084609en_HK
dc.identifier.scopusauthoridWulf, B=6701338798en_HK
dc.identifier.scopusauthoridKalin, N=7004276570en_HK
dc.identifier.scopusauthoridMaass, G=7005232454en_HK
dc.identifier.scopusauthoridKrawczak, M=7006351366en_HK
dc.identifier.scopusauthoridGuillermit, H=6603646176en_HK
dc.identifier.scopusauthoridFerec, C=7102089836en_HK
dc.identifier.scopusauthoridHorn, G=7101994138en_HK
dc.identifier.scopusauthoridKlinger, K=7007079511en_HK
dc.identifier.scopusauthoridKerem, BS=35376353800en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridTummler, B=7005547970en_HK

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