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Article: The relation between genotype and phenotype in cystic fibrosis - Analysis of the most common mutation (ΔF 508)

TitleThe relation between genotype and phenotype in cystic fibrosis - Analysis of the most common mutation (ΔF 508)
Authors
Issue Date1990
PublisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/
Citation
New England Journal Of Medicine, 1990, v. 323 n. 22, p. 1517-1522 How to Cite?
AbstractBackground and methods. Both the clinical manifestations of cystic fibrosis and the genotypes of patients are heterogeneous but the associations between the two are not known. We therefore studied blood samples from 293 patients with cystic fibrosis for the presence of the most common disease-causing mutation (ΔF 508) on chromosome 7 and compared the results with the clinical manifestations of the disease. Results. The prevalence of the ΔF 508 allele in the cohort was 71 percent; 52 percent of the patients were homozygous for the mutation, 40 percent were heterozygous, and 8 percent had other, undefined mutations. The patients who were homozygous for the mutation had received a diagnosis of cystic fibrosis at an earlier age and had a greater frequency of pancreatic insufficiency; pancreatic insufficiency was present in 99 percent of the homozygous patients, but in 72 percent of the heterozygous patients and only 36 percent of the patients with other genotypes. The patients with pancreatic insufficiency in all three genotype groups had similar clinical characteristics, reflected by an early age at diagnosis, similar sweat chloride values at diagnosis, similar severity of pulmonary disease, and similar percentiles for weight. In contrast, the patients in the heterozygous-genotype and other-genotype groups who did not have pancreatic insufficiency were older and had milder disease. They had lower sweat chloride value at diagnosis, normal nutritional status, and better pulmonary function after adjustment for age. Conclusions. The variable clinical course in patients with cystic fibrosis can be attributed at least in part to specific genotypes at the locus of the cystic fibrosis gene.
Persistent Identifierhttp://hdl.handle.net/10722/42295
ISSN
2015 Impact Factor: 59.558
2015 SCImago Journal Rankings: 14.619
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorKerem, Een_HK
dc.contributor.authorCorey, Men_HK
dc.contributor.authorKerem, BSen_HK
dc.contributor.authorRommens, Jen_HK
dc.contributor.authorMarkiewicz, Den_HK
dc.contributor.authorLevison, Hen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorDurie, Pen_HK
dc.date.accessioned2007-01-08T02:33:56Z-
dc.date.available2007-01-08T02:33:56Z-
dc.date.issued1990en_HK
dc.identifier.citationNew England Journal Of Medicine, 1990, v. 323 n. 22, p. 1517-1522en_HK
dc.identifier.issn0028-4793en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42295-
dc.description.abstractBackground and methods. Both the clinical manifestations of cystic fibrosis and the genotypes of patients are heterogeneous but the associations between the two are not known. We therefore studied blood samples from 293 patients with cystic fibrosis for the presence of the most common disease-causing mutation (ΔF 508) on chromosome 7 and compared the results with the clinical manifestations of the disease. Results. The prevalence of the ΔF 508 allele in the cohort was 71 percent; 52 percent of the patients were homozygous for the mutation, 40 percent were heterozygous, and 8 percent had other, undefined mutations. The patients who were homozygous for the mutation had received a diagnosis of cystic fibrosis at an earlier age and had a greater frequency of pancreatic insufficiency; pancreatic insufficiency was present in 99 percent of the homozygous patients, but in 72 percent of the heterozygous patients and only 36 percent of the patients with other genotypes. The patients with pancreatic insufficiency in all three genotype groups had similar clinical characteristics, reflected by an early age at diagnosis, similar sweat chloride values at diagnosis, similar severity of pulmonary disease, and similar percentiles for weight. In contrast, the patients in the heterozygous-genotype and other-genotype groups who did not have pancreatic insufficiency were older and had milder disease. They had lower sweat chloride value at diagnosis, normal nutritional status, and better pulmonary function after adjustment for age. Conclusions. The variable clinical course in patients with cystic fibrosis can be attributed at least in part to specific genotypes at the locus of the cystic fibrosis gene.en_HK
dc.format.extent1451327 bytes-
dc.format.extent30208 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.languageengen_HK
dc.publisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/en_HK
dc.relation.ispartofNew England Journal of Medicineen_HK
dc.rightsNew England Journal of Medicine. Copyright © Massachusetts Medical Society.en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshAdolescenten_HK
dc.subject.meshChild, preschoolen_HK
dc.subject.meshChlorides - analysisen_HK
dc.subject.meshChromosomes, human, pair 7en_HK
dc.subject.meshCystic fibrosis - genetics - physiopathologyen_HK
dc.titleThe relation between genotype and phenotype in cystic fibrosis - Analysis of the most common mutation (ΔF 508)en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0028-4793&volume=323&issue=22&spage=1517&epage=1522&date=1990&atitle=The+relation+between+genotype+and+phenotype+in+cystic+fibrosis-analysis+of+the+most+common+mutation+(delta+F508)en_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.doi10.1056/NEJM199011293232203-
dc.identifier.pmid2233932-
dc.identifier.scopuseid_2-s2.0-0025241696en_HK
dc.identifier.volume323en_HK
dc.identifier.issue22en_HK
dc.identifier.spage1517en_HK
dc.identifier.epage1522en_HK
dc.identifier.isiWOS:A1990EK20900003-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridKerem, E=7004873641en_HK
dc.identifier.scopusauthoridCorey, M=7005819978en_HK
dc.identifier.scopusauthoridKerem, BS=35376353800en_HK
dc.identifier.scopusauthoridRommens, J=7006884140en_HK
dc.identifier.scopusauthoridMarkiewicz, D=7007146509en_HK
dc.identifier.scopusauthoridLevison, H=7103193312en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridDurie, P=7005360997en_HK

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