[Gene diagnosis of autosomal dominant polycystic kidney disease type 2 using microsatellite DNA tightly linked to polycystic kidney disease gene 2].
OBJECTIVE
To use microsatellite DNA tightly linked to polycystic kidney disease gene 2 in the gene diagnosis of autosomal dominant polycystic kidney disease type 2.


METHODS
Microsatellite DNA of D4S1534, D4S1542, D4S1563,D4S2460 and D4S423 were amplified with PCR and the fragments of products were analyzed by capillary electrophoresis and Genescan and Genotyper software, and then gene diagnosis of the pedigrees was made by linkage analysis.


RESULTS
Three families were found to be linked to PKD2 in 20 families. Two carriers of PKD2 mutation were revealed by linkage analysis.


CONCLUSIONS
Gene diagnosis can be done for PKD2 mutation carriers prior to cytogenesis. Linkage analysis is a rapid, simple method for studying the heterogeneity of polycystic kidney disease and for diagnosing the disease at the molecular level.
Department of Nephrology, Changzheng Hospital, Second Military Medical University, Kidney Disease Center of PLA, Shanghai, 200003 PR China.
Wei-li
WL
Zhang
Dian-yong
DY
Zhang
Yu-mei
YM
Wu
Tian-mei
TM
Sun
Chang-lin
CL
Mei
D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis* / Q000235:genetics*; D050396:TRPP Cation Channels / Q000235:genetics*
D050396:TRPP Cation Channels