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Article: Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism

TitleCarrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism
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. 479-481 How to Cite?
AbstractSummary. We have analysed the segregation of a TA-repeat polymorphism in intron 17b of the cystic fibrosis transmembrane conductance regulator gene responsible for cystic fibrosis (CF) in 23 French CF families non-informative for the ΔF508 mutation (i.e. with at least one parent not carrying ΔF508) or closely linked DNA markers. At least 13 different alleles ranging from 7 to 45 repeats were observed and the detected heterozygosity was 89%. Of the 23 families studied, 19 were fully informative for prenatal diagnosis or carrier detection, 3 were partially informative and one was not informative. In 6 families, prenatal diagnosis for CF or carrier detection in siblings of CF cases were performed using this polymorphism.
Persistent Identifierhttp://hdl.handle.net/10722/44252
ISSN
2015 Impact Factor: 5.138
2015 SCImago Journal Rankings: 2.931
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorMornet, Een_HK
dc.contributor.authorChateau, Cen_HK
dc.contributor.authorSimonBouy, Ben_HK
dc.contributor.authorBoue, Jen_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorBoue, Aen_HK
dc.date.accessioned2007-09-12T03:49:56Z-
dc.date.available2007-09-12T03:49:56Z-
dc.date.issued1992en_HK
dc.identifier.citationHuman Genetics, 1992, v. 88 n. 4, p. 479-481en_HK
dc.identifier.issn0340-6717en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44252-
dc.description.abstractSummary. We have analysed the segregation of a TA-repeat polymorphism in intron 17b of the cystic fibrosis transmembrane conductance regulator gene responsible for cystic fibrosis (CF) in 23 French CF families non-informative for the ΔF508 mutation (i.e. with at least one parent not carrying ΔF508) or closely linked DNA markers. At least 13 different alleles ranging from 7 to 45 repeats were observed and the detected heterozygosity was 89%. Of the 23 families studied, 19 were fully informative for prenatal diagnosis or carrier detection, 3 were partially informative and one was not informative. In 6 families, prenatal diagnosis for CF or carrier detection in siblings of CF cases were performed using this polymorphism.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 - geneticsen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulatoren_HK
dc.subject.meshDna - genetics - isolation & purificationen_HK
dc.subject.meshHeterozygote detectionen_HK
dc.subject.meshIntronsen_HK
dc.titleCarrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphismen_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/BF00215687en_HK
dc.identifier.pmid1371264-
dc.identifier.scopuseid_2-s2.0-0026586362en_HK
dc.identifier.volume88en_HK
dc.identifier.issue4en_HK
dc.identifier.spage479en_HK
dc.identifier.epage481en_HK
dc.identifier.isiWOS:A1992HE63100021-
dc.publisher.placeGermanyen_HK
dc.identifier.scopusauthoridMornet, E=7004870152en_HK
dc.identifier.scopusauthoridChateau, C=6603877275en_HK
dc.identifier.scopusauthoridSimonBouy, B=7004309755en_HK
dc.identifier.scopusauthoridBoue, J=7005542318en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridBoue, A=7103160260en_HK

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