PolyU Library
Journal Call no.R644.H63J573
AuthorYau, C. F. F.
Article TitleGenetic linkage study of family members of a patient with adult polycystic kidney disease / C.F.F. Yau ... [et al.].
Is Part OfHong Kong medical journal ; v.5, no.4, Dec 1999, p.344-348, illus.
AbstractThe article studies the feasibility of making an early diagnosis of adult polycystic kidney disease (APKD) by using genetic linkage analysis in Hong Kong. Six members of a Chinese family with a history of APKD as the participants of the study. The inheritance pattern of APKD 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 polycystic kidney disease (PKD1) gene on chromosome 16. Four of the six members of the family studied were shown to be positive for disease-linked markers, and the inheritance of APKD could be traced in this family with a higher degree of precision (93.7 percent) using genetic linkage analysis, than could be predicted otherwise. In conclusion, the success of genetic linkage analysis in providing an early diagnosis of APKD 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.