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Article: Genetic determination of exocrine pancreatic function in cystic fibrosis

TitleGenetic determination of exocrine pancreatic function in cystic fibrosis
Authors
Issue Date1992
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 1992, v. 50 n. 6, p. 1178-1184 How to Cite?
AbstractWe showed elsewhere that the pancreatic function status of cystic fibrosis (CF) patients could be correlated to mutations in the CF transmembrane conductance regulator (CFTR) gene. Although the majority of CF mutations- including the most common, ΔF508-strongly correlated with pancreatic insufficiency (PI), approximately 10% of the mutant alleles may confer pancreatic sufficiency (PS). To extend this observation, genomic DNA of 538 CF patients with well-documented pancreatic function status were analyzed for a series of known mutations in their CFTR genes. Only 20 of the 25 mutations tested were found in this population. They accounted for 84% of the CF chromosomes, with ΔF508 being the most frequent (71%), and the other mutations accounted for less than 5% each. A total of 30 different, complete genotypes could be determined in 394 (73%) of the patients. The data showed that each genotype was associated only with PI or only with PS, but not with both. This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as ΔF508, ΔI507, Q493X, G542X, R553X, W1282X, 621 + 1G→T, 1717-1G→A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T.
Persistent Identifierhttp://hdl.handle.net/10722/42299
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorKristidis, Pen_HK
dc.contributor.authorBozon, Den_HK
dc.contributor.authorCorey, Men_HK
dc.contributor.authorMarkiewicz, Den_HK
dc.contributor.authorRommens, Jen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorDurie, Pen_HK
dc.date.accessioned2007-01-08T02:34:02Z-
dc.date.available2007-01-08T02:34:02Z-
dc.date.issued1992en_HK
dc.identifier.citationAmerican Journal Of Human Genetics, 1992, v. 50 n. 6, p. 1178-1184en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42299-
dc.description.abstractWe showed elsewhere that the pancreatic function status of cystic fibrosis (CF) patients could be correlated to mutations in the CF transmembrane conductance regulator (CFTR) gene. Although the majority of CF mutations- including the most common, ΔF508-strongly correlated with pancreatic insufficiency (PI), approximately 10% of the mutant alleles may confer pancreatic sufficiency (PS). To extend this observation, genomic DNA of 538 CF patients with well-documented pancreatic function status were analyzed for a series of known mutations in their CFTR genes. Only 20 of the 25 mutations tested were found in this population. They accounted for 84% of the CF chromosomes, with ΔF508 being the most frequent (71%), and the other mutations accounted for less than 5% each. A total of 30 different, complete genotypes could be determined in 394 (73%) of the patients. The data showed that each genotype was associated only with PI or only with PS, but not with both. This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as ΔF508, ΔI507, Q493X, G542X, R553X, W1282X, 621 + 1G→T, 1717-1G→A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T.en_HK
dc.format.extent1113761 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.meshAllelesen_HK
dc.subject.meshAmino acid sequenceen_HK
dc.subject.meshChromosome deletionen_HK
dc.subject.meshChromosome mappingen_HK
dc.subject.meshCodon - geneticsen_HK
dc.titleGenetic determination of exocrine pancreatic function in cystic fibrosisen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0002-9297&volume=50&issue=6&spage=1178&epage=1184&date=1992&atitle=Genetic+determination+of+exocrine+pancreatic+function+in+cystic+fibrosisen_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.pmid1376016-
dc.identifier.pmcidPMC1682557-
dc.identifier.scopuseid_2-s2.0-0026734588en_HK
dc.identifier.volume50en_HK
dc.identifier.issue6en_HK
dc.identifier.spage1178en_HK
dc.identifier.epage1184en_HK
dc.identifier.isiWOS:A1992HY65400004-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridKristidis, P=6507806296en_HK
dc.identifier.scopusauthoridBozon, D=7003759305en_HK
dc.identifier.scopusauthoridCorey, M=7005819978en_HK
dc.identifier.scopusauthoridMarkiewicz, D=7007146509en_HK
dc.identifier.scopusauthoridRommens, J=7006884140en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridDurie, P=7005360997en_HK

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