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Article: Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers

TitleHaplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers
Authors
KeywordsCystic fibrosis
Haplotypes
Mutation screening
Issue Date1996
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Citation
Human Mutation, 1996, v. 8 n. 2, p. 149-159 How to Cite?
AbstractWe have analyzed 416 normal and 467 chromosomes carrying 94 different cystic fibrosis (CF) mutations with polymorphic genetic markers J44, IVS6aGATT, IVS8CA, T854, IVS17BTA, IVS17BCA, and TUB20. The number of mutations found with each haplotype is proportional to its frequency among normal chromosomes, suggesting that there is no preferential haplotype in which mutations arise and thus excluding possible selection for specific haplotypes. While many common mutations in the worldwide CF population showed absence of haplotype variation, indicating their recent origins, some mutations were associated with more than one haplotype. The most common CF mutations, ΔF508, G542X, and N1303K, showed the highest number of slippage events at microsatellites, suggesting that they are the most ancient CF mutations. Recurrence was probably the case for 9 CF mutations (R117H, H199Y, R347YH, R347P, L558S, 2184insA, 3272-26A→G, R1162X, and 3849+10kbC→T). This analysis of 94 CF mutations should facilitate mutation screening and provides useful data for studies on population genetics of CF.
Persistent Identifierhttp://hdl.handle.net/10722/44293
ISSN
2015 Impact Factor: 5.089
2015 SCImago Journal Rankings: 3.670
ISI Accession Number ID
References
Errata

 

DC FieldValueLanguage
dc.contributor.authorMorral, Nen_HK
dc.contributor.authorDörk, Ten_HK
dc.contributor.authorLlevadot, Ren_HK
dc.contributor.authorDziadek, Ven_HK
dc.contributor.authorMercier, Ben_HK
dc.contributor.authorFérec, Cen_HK
dc.contributor.authorCostes, Ben_HK
dc.contributor.authorGirodon, Een_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorTümmler, Ben_HK
dc.contributor.authorEstivill, Xen_HK
dc.date.accessioned2007-09-12T03:50:48Z-
dc.date.available2007-09-12T03:50:48Z-
dc.date.issued1996en_HK
dc.identifier.citationHuman Mutation, 1996, v. 8 n. 2, p. 149-159en_HK
dc.identifier.issn1059-7794en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44293-
dc.description.abstractWe have analyzed 416 normal and 467 chromosomes carrying 94 different cystic fibrosis (CF) mutations with polymorphic genetic markers J44, IVS6aGATT, IVS8CA, T854, IVS17BTA, IVS17BCA, and TUB20. The number of mutations found with each haplotype is proportional to its frequency among normal chromosomes, suggesting that there is no preferential haplotype in which mutations arise and thus excluding possible selection for specific haplotypes. While many common mutations in the worldwide CF population showed absence of haplotype variation, indicating their recent origins, some mutations were associated with more than one haplotype. The most common CF mutations, ΔF508, G542X, and N1303K, showed the highest number of slippage events at microsatellites, suggesting that they are the most ancient CF mutations. Recurrence was probably the case for 9 CF mutations (R117H, H199Y, R347YH, R347P, L558S, 2184insA, 3272-26A→G, R1162X, and 3849+10kbC→T). This analysis of 94 CF mutations should facilitate mutation screening and provides useful data for studies on population genetics of CF.en_HK
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515en_HK
dc.relation.ispartofHuman Mutationen_HK
dc.subjectCystic fibrosisen_HK
dc.subjectHaplotypesen_HK
dc.subjectMutation screeningen_HK
dc.subject.meshCystic fibrosisen_HK
dc.subject.meshHaplotypesen_HK
dc.subject.meshMutation screeningen_HK
dc.subject.meshPolymorphism, geneticen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulator - geneticsen_HK
dc.titleHaplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markersen_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.doi10.1002/(SICI)1098-1004(1996)8:2<149::AID-HUMU7>3.0.CO;2-6en_HK
dc.identifier.pmid8844213-
dc.identifier.scopuseid_2-s2.0-15844373505en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-15844373505&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume8en_HK
dc.identifier.issue2en_HK
dc.identifier.spage149en_HK
dc.identifier.epage159en_HK
dc.identifier.isiWOS:A1996UZ87200007-
dc.publisher.placeUnited Statesen_HK
dc.relation.erratumeid:eid_2-s2.0-0029820691-
dc.identifier.scopusauthoridMorral, N=7003905084en_HK
dc.identifier.scopusauthoridDörk, T=7007100340en_HK
dc.identifier.scopusauthoridLlevadot, R=6602249828en_HK
dc.identifier.scopusauthoridDziadek, V=6508036643en_HK
dc.identifier.scopusauthoridMercier, B=7005099712en_HK
dc.identifier.scopusauthoridFérec, C=7102089836en_HK
dc.identifier.scopusauthoridCostes, B=6603837324en_HK
dc.identifier.scopusauthoridGirodon, E=7003808287en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridTümmler, B=7005547970en_HK
dc.identifier.scopusauthoridEstivill, X=36047834200en_HK

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