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Cited 95 times in

A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases

DC Field Value Language
dc.contributor.author김경환-
dc.contributor.author김동수-
dc.contributor.author박승우-
dc.contributor.author송시영-
dc.contributor.author윤주헌-
dc.contributor.author이민구-
dc.contributor.author이지현-
dc.contributor.author장준-
dc.contributor.author최지하-
dc.date.accessioned2015-07-15T17:19:14Z-
dc.date.available2015-07-15T17:19:14Z-
dc.date.issued2003-
dc.identifier.issn0964-6906-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/114670-
dc.description.abstractthe CFTR gene in the Korean population. Individual variants at these sites were analyzed by conventional DNA screening in 117 control and 75 patients having bronchiectasis or chronic pancreatitis. In a haplotype determination based on a Bayesian algorithm, 15 haplotypes were assembled in the 192 individuals tested. Several haplotypes, especially with Q1352H, IVS8 T5, and E217G, were found to have disease associations in a case-control study. Notably, a common polymorphism of M470V appears to affect the intensity of the disease association. Among the two haplotypes having IVS8 T5, the T5-V470 haplotype showed higher disease association than the T5-M470 haplotype. In addition, a Q1352H mutation found in a V470 background showed the strongest disease association. The physiological significances of the identified mutations were rigorously analyzed. Non-synonymous E217G and Q1352H mutations in the M470 background caused a 60-80% reduction in CFTR-dependent Cl(-) currents and HCO3(-) -transport activities. Surprisingly, the additional M470V polymorphic variant with the Q1352H mutation completely abolished CFTR-dependent anion transport activities. These findings provide the first evidence on the importance of CFTR mutations in the Asian population. Importantly, the results also reveal that interactions between multiple genetic variants in cis affect the final function of the gene products.-
dc.description.statementOfResponsibilityopen-
dc.format.extent2321~2332-
dc.relation.isPartOfHUMAN MOLECULAR GENETICS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAlleles-
dc.subject.MESHAnimals-
dc.subject.MESHBicarbonates/metabolism-
dc.subject.MESHBronchiectasis/genetics-
dc.subject.MESHCHO Cells-
dc.subject.MESHCase-Control Studies-
dc.subject.MESHChloride Channels-
dc.subject.MESHChlorides/metabolism-
dc.subject.MESHCricetinae-
dc.subject.MESHCricetulus-
dc.subject.MESHCystic Fibrosis Transmembrane Conductance Regulator/genetics*-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHEvolution, Molecular-
dc.subject.MESHGene Frequency-
dc.subject.MESHGenetic Variation-
dc.subject.MESHHaplotypes*-
dc.subject.MESHHumans-
dc.subject.MESHIon Transport-
dc.subject.MESHKorea-
dc.subject.MESHMicrosatellite Repeats-
dc.subject.MESHMutagenesis, Site-Directed-
dc.subject.MESHMutation*-
dc.subject.MESHPancreatic Diseases/genetics*-
dc.subject.MESHPancreatitis/genetics-
dc.subject.MESHPolymorphism, Genetic-
dc.subject.MESHRespiratory System/physiopathology*-
dc.titleA haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Internal Medicine (내과학)-
dc.contributor.googleauthorJi Hyun Lee-
dc.contributor.googleauthorJi Ha Choi-
dc.contributor.googleauthorMin Goo Lee-
dc.contributor.googleauthorKyung Hwan Kim-
dc.contributor.googleauthorJong-Eun Lee-
dc.contributor.googleauthorMi-Ook Cho-
dc.contributor.googleauthorSung Joon Kim-
dc.contributor.googleauthorJoo Hyun Nam-
dc.contributor.googleauthorIn-Jin Jang-
dc.contributor.googleauthorYousin Suh-
dc.contributor.googleauthorJoo-Heon Yoon-
dc.contributor.googleauthorDong Soo Kim-
dc.contributor.googleauthorSeung Woo Park-
dc.contributor.googleauthorSi Young Song-
dc.contributor.googleauthorJoon Chang-
dc.contributor.googleauthorJohn W. Hanrahan-
dc.contributor.googleauthorWan Namkung-
dc.identifier.doi10.1093/hmg/ddg243-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00311-
dc.contributor.localIdA01551-
dc.contributor.localIdA02035-
dc.contributor.localIdA02604-
dc.contributor.localIdA02781-
dc.contributor.localIdA03472-
dc.contributor.localIdA04198-
dc.contributor.localIdA03214-
dc.contributor.localIdA00405-
dc.relation.journalcodeJ01008-
dc.identifier.eissn1460-2083-
dc.identifier.pmid12952861-
dc.subject.keyword12952861-
dc.contributor.alternativeNameKim, Kyung Hwan-
dc.contributor.alternativeNameKim, Dong Soo-
dc.contributor.alternativeNamePark, Seung Woo-
dc.contributor.alternativeNameSong, Si Young-
dc.contributor.alternativeNameYoon, Joo Heon-
dc.contributor.alternativeNameLee, Min Goo-
dc.contributor.alternativeNameLee, Ji Hyun-
dc.contributor.alternativeNameChang, Joon-
dc.contributor.alternativeNameChoi, Ji Ha-
dc.contributor.affiliatedAuthorKim, Kyung Hwan-
dc.contributor.affiliatedAuthorPark, Seung Woo-
dc.contributor.affiliatedAuthorSong, Si Young-
dc.contributor.affiliatedAuthorYoon, Joo Heon-
dc.contributor.affiliatedAuthorLee, Min Goo-
dc.contributor.affiliatedAuthorChang, Joon-
dc.contributor.affiliatedAuthorChoi, Ji Ha-
dc.contributor.affiliatedAuthorLee, Ji Hyun-
dc.contributor.affiliatedAuthorKim, Dong Soo-
dc.rights.accessRightsfree-
dc.citation.volume12-
dc.citation.number18-
dc.citation.startPage2321-
dc.citation.endPage2332-
dc.identifier.bibliographicCitationHUMAN MOLECULAR GENETICS, Vol.12(18) : 2321-2332, 2003-
dc.identifier.rimsid45648-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers

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