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Article: Genetic determination of exocrine pancreatic function in cystic fibrosis
Title | Genetic determination of exocrine pancreatic function in cystic fibrosis |
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Authors | |
Issue Date | 1992 |
Publisher | Cell 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? |
Abstract | We 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 Identifier | http://hdl.handle.net/10722/42299 |
ISSN | 2023 Impact Factor: 8.1 2023 SCImago Journal Rankings: 4.516 |
PubMed Central ID | |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Kristidis, P | en_HK |
dc.contributor.author | Bozon, D | en_HK |
dc.contributor.author | Corey, M | en_HK |
dc.contributor.author | Markiewicz, D | en_HK |
dc.contributor.author | Rommens, J | en_HK |
dc.contributor.author | Tsui, LC | en_HK |
dc.contributor.author | Durie, P | en_HK |
dc.date.accessioned | 2007-01-08T02:34:02Z | - |
dc.date.available | 2007-01-08T02:34:02Z | - |
dc.date.issued | 1992 | en_HK |
dc.identifier.citation | American Journal Of Human Genetics, 1992, v. 50 n. 6, p. 1178-1184 | en_HK |
dc.identifier.issn | 0002-9297 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/42299 | - |
dc.description.abstract | We 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.extent | 1113761 bytes | - |
dc.format.extent | 30208 bytes | - |
dc.format.mimetype | application/pdf | - |
dc.format.mimetype | application/msword | - |
dc.language | eng | en_HK |
dc.publisher | Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/ | en_HK |
dc.relation.ispartof | American Journal of Human Genetics | en_HK |
dc.rights | American journal of human genetics. Copyright © University of Chicago Press. | en_HK |
dc.subject.mesh | Alleles | en_HK |
dc.subject.mesh | Amino acid sequence | en_HK |
dc.subject.mesh | Chromosome deletion | en_HK |
dc.subject.mesh | Chromosome mapping | en_HK |
dc.subject.mesh | Codon - genetics | en_HK |
dc.title | Genetic determination of exocrine pancreatic function in cystic fibrosis | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://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+fibrosis | en_HK |
dc.identifier.email | Tsui, LC: tsuilc@hkucc.hku.hk | en_HK |
dc.identifier.authority | Tsui, LC=rp00058 | en_HK |
dc.description.nature | published_or_final_version | en_HK |
dc.identifier.pmid | 1376016 | - |
dc.identifier.pmcid | PMC1682557 | - |
dc.identifier.scopus | eid_2-s2.0-0026734588 | en_HK |
dc.identifier.volume | 50 | en_HK |
dc.identifier.issue | 6 | en_HK |
dc.identifier.spage | 1178 | en_HK |
dc.identifier.epage | 1184 | en_HK |
dc.identifier.isi | WOS:A1992HY65400004 | - |
dc.publisher.place | United States | en_HK |
dc.identifier.scopusauthorid | Kristidis, P=6507806296 | en_HK |
dc.identifier.scopusauthorid | Bozon, D=7003759305 | en_HK |
dc.identifier.scopusauthorid | Corey, M=7005819978 | en_HK |
dc.identifier.scopusauthorid | Markiewicz, D=7007146509 | en_HK |
dc.identifier.scopusauthorid | Rommens, J=7006884140 | en_HK |
dc.identifier.scopusauthorid | Tsui, LC=7102754167 | en_HK |
dc.identifier.scopusauthorid | Durie, P=7005360997 | en_HK |
dc.identifier.issnl | 0002-9297 | - |