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Article: Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population

TitleIdentification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population
Authors
Issue Date1993
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 1993, v. 52 n. 3, p. 609-615 How to Cite?
AbstractThe Hutterite population is a genetic isolate with an increased incidence of cystic fibrosis (CF). Previously we identified three CF haplotypes defined by polymorphisms flanking the CF transmembrane conductance regulator (CFTR) gene. ΔF508 was present on one of the haplotypes in only 35% of CF chromosomes. We hypothesized that the other two CF haplotypes, one of which was the most common and the other of which is rare, each harbored different non-ΔF508 mutations. Single-strand conformation polymorphism analysis detected a missense mutation, M1101K, in both chromosomes of a Hutterite patient carrying the two non-ΔF508 haplotypes. M1101K appears to have originated on an uncommon CFTR allele and to be infrequent outside the Hutterite population. The presence of M1101K on two haplotypes is likely the result of a CFTR intragenic recombination which occurred since the founding, 10-12 generations ago, of the Hutterite population. The crossover was located between exons 14a and 17b, an interval of approximately 15 kbp. ΔF508 and M1101K accounted for all of the CF mutations in patients from 16 CF families representing the three subdivisions of the Hutterite population.
Persistent Identifierhttp://hdl.handle.net/10722/42300
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorFujiwara, TMen_HK
dc.contributor.authorMarkiewicz, Den_HK
dc.contributor.authorParadis, AJen_HK
dc.contributor.authorAnacleto, AIen_HK
dc.contributor.authorRichards, Ben_HK
dc.contributor.authorSchwartz, RHen_HK
dc.contributor.authorKlinger, KWen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorMorgan, Ken_HK
dc.date.accessioned2007-01-08T02:34:03Z-
dc.date.available2007-01-08T02:34:03Z-
dc.date.issued1993en_HK
dc.identifier.citationAmerican Journal Of Human Genetics, 1993, v. 52 n. 3, p. 609-615en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42300-
dc.description.abstractThe Hutterite population is a genetic isolate with an increased incidence of cystic fibrosis (CF). Previously we identified three CF haplotypes defined by polymorphisms flanking the CF transmembrane conductance regulator (CFTR) gene. ΔF508 was present on one of the haplotypes in only 35% of CF chromosomes. We hypothesized that the other two CF haplotypes, one of which was the most common and the other of which is rare, each harbored different non-ΔF508 mutations. Single-strand conformation polymorphism analysis detected a missense mutation, M1101K, in both chromosomes of a Hutterite patient carrying the two non-ΔF508 haplotypes. M1101K appears to have originated on an uncommon CFTR allele and to be infrequent outside the Hutterite population. The presence of M1101K on two haplotypes is likely the result of a CFTR intragenic recombination which occurred since the founding, 10-12 generations ago, of the Hutterite population. The crossover was located between exons 14a and 17b, an interval of approximately 15 kbp. ΔF508 and M1101K accounted for all of the CF mutations in patients from 16 CF families representing the three subdivisions of the Hutterite population.en_HK
dc.format.extent1106730 bytes-
dc.format.extent30208 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.languageengen_HK
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/en_HK
dc.relation.ispartofAmerican Journal of Human Geneticsen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsAmerican journal of human genetics. Copyright © University of Chicago Press.en_HK
dc.subject.meshAdolescenten_HK
dc.subject.meshAmino acid sequenceen_HK
dc.subject.meshCystic fibrosis - geneticsen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulatoren_HK
dc.subject.meshDna - genetics - isolation & purificationen_HK
dc.titleIdentification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite populationen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0002-9297&volume=52&issue=3&spage=609&epage=615&date=1993&atitle=Identification+of+the+M1101K+mutation+in+the+cystic+fibrosis+transmembrane+conductance+regulator+(CFTR)+gene+and+complete+detection+of+cystic+fibrosis+mutations+in+the+Hutterite+populationen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid7680525-
dc.identifier.pmcidPMC1682152-
dc.identifier.scopuseid_2-s2.0-0027432649en_HK
dc.identifier.volume52en_HK
dc.identifier.issue3en_HK
dc.identifier.spage609en_HK
dc.identifier.epage615en_HK
dc.identifier.isiWOS:A1993KR72000018-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridFujiwara, TM=7403542779en_HK
dc.identifier.scopusauthoridMarkiewicz, D=7007146509en_HK
dc.identifier.scopusauthoridParadis, AJ=7003965455en_HK
dc.identifier.scopusauthoridAnacleto, AI=6506261174en_HK
dc.identifier.scopusauthoridRichards, B=7202100406en_HK
dc.identifier.scopusauthoridSchwartz, RH=7404171526en_HK
dc.identifier.scopusauthoridKlinger, KW=7007079511en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridMorgan, K=7401575362en_HK

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