[Gene diagnosis of 10 Chinese families with adult polycystic kidney disease from Guangxi region].
OBJECTIVE
To study presymptomatic gene diagnosis in adult polycystic kidney disease (APKD).


METHODS
Linkage analysis and haplotype characterization were carried out in 10 unrelated Chinese APKD families from Guangxi region, including 97 individuals and 29 affected members. Members of these families were ultrasonographically examined. Linkage to PKD1 was investigated in all families with four microsatellite markers(SM7, CW2, AC2.5, and KG8). These flanking markers were amplified by PCR.


RESULTS
The families were fully informative for gene diagnosis and no evidence of genetic heterogeneity was found. DNA analysis predicted 7 asymptomatic individuals(by 28 years old) as being affected, although they all presented negative ultrasonographs.


CONCLUSIONS
Linkage analysis is still an important way in APKD presymptomatic gene diagnosis.
Bai
Q
Q
Department of Nephrology, Beijing Medical University, Beijing, 100034 P. R. China.
Zhu
S
S
Chen
X
X
Liao
Q
Q
Wang
H
H
D000328:Adult; D002681:China; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D007690:Polycystic Kidney Diseases / Q000175:diagnosis*