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

CFF Lau, CK Choo, TM Chan, IKP Cheng, KW Chan
Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong

OBJECTIVE. 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.

Hong Kong Med J 1999;5:344-8

Key words: Chromosomes, human, pair 16; Genotype; Kidney, polycystic/genetics; Linkage (genetics); Prognosis