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Article: Genetic linkage study of family members of a patient with adult polycystic kidney disease

TitleGenetic linkage study of family members of a patient with adult polycystic kidney disease
Authors
KeywordsChromosomes, human, pair 16
Genotype
Kidney, polycystic/genetics
Linkage (genetics)
Prognosis
Issue Date1999
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org
Citation
Hong Kong Medical Journal, 1999, v. 5 n. 4, p. 344-348 How to Cite?
AbstractOBJECTIVE. To study the feasibility of making an early diagnosis of adult polycystic kidney disease by using genetic linkage analysis in Hong Kong. DESIGN. Genetic linkage study. SETTING. University teaching hospital, Hong Kong. PARTICIPANTS. Six members of a Chinese family with a history of adult polycystic kidney disease. MAIN OUTCOME MEASURES. The inheritance pattern of adult polycystic kidney disease, as detected by polyacrylamide gel electrophoresis of polymerase chain reaction products using radioactively labelled primers specific to six microsatellite DNA markers that are closely linked to the PKD1 gene on chromosome 16. RESULTS. Four of the six members of the family studied were shown to be positive for disease-linked markers, and the inheritance of adult polycystic kidney disease could be traced in this family with a higher degree of precision (93.7%) using genetic linkage analysis, than could be predicted otherwise. CONCLUSION. The success of genetic linkage analysis in providing an early diagnosis of adult polycystic kidney disease is dependent on having a sufficient number of family members whose disease status has been established by imaging methods to allow the disease-linked marker haplotype to be determined. The establishment of a genetic data bank for families with adult polycystic kidney disease should be considered to maximise the effectiveness of this diagnostic approach.
Persistent Identifierhttp://hdl.handle.net/10722/53410
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279

 

DC FieldValueLanguage
dc.contributor.authorYau, CFFen_HK
dc.contributor.authorChoo, CKen_HK
dc.contributor.authorChan, DTMen_HK
dc.contributor.authorCheng, IKPen_HK
dc.contributor.authorChan, KWen_HK
dc.date.accessioned2009-04-03T07:19:03Z-
dc.date.available2009-04-03T07:19:03Z-
dc.date.issued1999en_HK
dc.identifier.citationHong Kong Medical Journal, 1999, v. 5 n. 4, p. 344-348en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/53410-
dc.description.abstractOBJECTIVE. To study the feasibility of making an early diagnosis of adult polycystic kidney disease by using genetic linkage analysis in Hong Kong. DESIGN. Genetic linkage study. SETTING. University teaching hospital, Hong Kong. PARTICIPANTS. Six members of a Chinese family with a history of adult polycystic kidney disease. MAIN OUTCOME MEASURES. The inheritance pattern of adult polycystic kidney disease, as detected by polyacrylamide gel electrophoresis of polymerase chain reaction products using radioactively labelled primers specific to six microsatellite DNA markers that are closely linked to the PKD1 gene on chromosome 16. RESULTS. Four of the six members of the family studied were shown to be positive for disease-linked markers, and the inheritance of adult polycystic kidney disease could be traced in this family with a higher degree of precision (93.7%) using genetic linkage analysis, than could be predicted otherwise. CONCLUSION. The success of genetic linkage analysis in providing an early diagnosis of adult polycystic kidney disease is dependent on having a sufficient number of family members whose disease status has been established by imaging methods to allow the disease-linked marker haplotype to be determined. The establishment of a genetic data bank for families with adult polycystic kidney disease should be considered to maximise the effectiveness of this diagnostic approach.en_HK
dc.languageengen_HK
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.orgen_HK
dc.rightsHong Kong Medical Journal. Copyright © Hong Kong Medical Association.en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectChromosomes, human, pair 16en_HK
dc.subjectGenotypeen_HK
dc.subjectKidney, polycystic/geneticsen_HK
dc.subjectLinkage (genetics)en_HK
dc.subjectPrognosisen_HK
dc.titleGenetic linkage study of family members of a patient with adult polycystic kidney diseaseen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1024-2708&volume=5&issue=4&spage=344&epage=348&date=1999&atitle=Genetic+linkage+study+of+family+members+of+a+patient+with+adult+polycystic+kidney+diseaseen_HK
dc.identifier.emailChoo, CK: ckchoo@hkucc.hku.hken_HK
dc.identifier.emailChan, DTM: dtmchan@hku.hken_HK
dc.identifier.emailCheng, IKP: hrmekpc@HKUCC.hku.hken_HK
dc.identifier.emailChan, KW: hrmtckw@hku.hken_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid10870160en_HK
dc.identifier.hkuros47766-

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