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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, N2 1
Dörk, T3
Llevadot, R2
Dziadek, V3
Mercier, B5
Férec, C5
Costes, B4
Girodon, E4
Zielenski, J6
Tsui, LC6
Tümmler, B3
Estivill, X2
 
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
2012 Impact Factor: 5.213
2012 SCImago Journal Rankings: 2.479
 
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 FieldValue
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
2012 Impact Factor: 5.213
2012 SCImago Journal Rankings: 2.479
 
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
 
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Author Affiliations
  1. Baylor College of Medicine
  2. null
  3. Medizinische Hochschule Hannover (MHH)
  4. Inserm
  5. Centre de Biogenetique
  6. Hospital for Sick Children University of Toronto