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

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TitleHaplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers
AuthorsMorral, N1 5
Dörk, T2
Llevadot, R5
Dziadek, V2
Mercier, B4
Férec, C4
Costes, B3
Girodon, E3
Zielenski, J6
Tsui, LC6
Tümmler, B2
Estivill, X5
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
CitationHuman Mutation, 1996, v. 8 n. 2, p. 149-159 [How to Cite?]
DOI: http://dx.doi.org/10.1002/(SICI)1098-1004(1996)8:2<149::AID-HUMU7>3.0.CO;2-6
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.
DescriptionErratum in Human Mutation,1996, v. 8 n. 3, p. 295-296
ISSN1059-7794
2011 Impact Factor: 5.686
2011 SCImago Journal Rankings: 0.773
DOIhttp://dx.doi.org/10.1002/(SICI)1098-1004(1996)8:2<149::AID-HUMU7>3.0.CO;2-6
ISI Accession Number IDWOS:A1996UZ87200007
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorMorral, N
dc.contributor.authorDörk, T
dc.contributor.authorLlevadot, R
dc.contributor.authorDziadek, V
dc.contributor.authorMercier, B
dc.contributor.authorFérec, C
dc.contributor.authorCostes, B
dc.contributor.authorGirodon, E
dc.contributor.authorZielenski, J
dc.contributor.authorTsui, LC
dc.contributor.authorTümmler, B
dc.contributor.authorEstivill, X
dc.date.accessioned2007-09-12T03:50:48Z
dc.date.available2007-09-12T03:50:48Z
dc.date.issued1996
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.
dc.description.natureabstract
dc.descriptionErratum in Human Mutation,1996, v. 8 n. 3, p. 295-296
dc.identifier.citationHuman Mutation, 1996, v. 8 n. 2, p. 149-159 [How to Cite?]
DOI: http://dx.doi.org/10.1002/(SICI)1098-1004(1996)8:2<149::AID-HUMU7>3.0.CO;2-6
dc.identifier.doihttp://dx.doi.org/10.1002/(SICI)1098-1004(1996)8:2<149::AID-HUMU7>3.0.CO;2-6
dc.identifier.epage159
dc.identifier.isiWOS:A1996UZ87200007
dc.identifier.issn1059-7794
2011 Impact Factor: 5.686
2011 SCImago Journal Rankings: 0.773
dc.identifier.issue2
dc.identifier.pmid8844213
dc.identifier.scopuseid_2-s2.0-15844373505
dc.identifier.spage149
dc.identifier.urihttp://hdl.handle.net/10722/44293
dc.identifier.volume8
dc.languageeng
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
dc.publisher.placeUnited States
dc.relation.ispartofHuman Mutation
dc.relation.referencesReferences in Scopus
dc.subject.meshCystic fibrosis
dc.subject.meshHaplotypes
dc.subject.meshMutation screening
dc.subject.meshPolymorphism, genetic
dc.subject.meshCystic fibrosis transmembrane conductance regulator - genetics
dc.subjectCystic fibrosis
dc.subjectHaplotypes
dc.subjectMutation screening
dc.titleHaplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers
dc.typeArticle
Author Affiliations
  1. Baylor College of Medicine
  2. Medizinische Hochschule Hannover (MHH)
  3. Inserm
  4. Centre de Biogenetique
  5. null
  6. Hospital for Sick Children, Toronto