[A Chinese autosomal dominant polycystic kidney disease family probably related to PKD2 gene].
OBJECTIVE
To study the genetic heterogeneity of autosomal dominant polycystic kidney disease (ADPKD) in Chinese.


METHODS
Using polymerase chain reaction (PCR) and non-denatured polyacrylamide gel electrophoresis, the authors analyzed eight microsatellite markers closely linked to PKD1 or PKD2 genes respectively in a Chinese ADPKD family.


RESULTS
Seven informative markers were found in this family, including KG8, SM6, CW4 and CW2 which are tightly linked to PKD1, and D4S1563, D4S414 and D4S423 which are linked to PKD2. After the process of genotyping, the haplotypes were estimated with Cyrillic 2.0, and the linkage-based analysis suggested that the disease is not linked to PKD1 other than PKD2.


CONCLUSIONS
In China this non-PKD1 family is the second one, but it is the first reported PKD2 family showing the genetic heterogeneity of ADPKD in Chinese. In the family the affected mother transmits the disease and the affected members' phenotypes are eterogeneous. In addition, the existing "anticipation" and the presence of the disease in a child of this family suggest that non-PKD1 linked families may have early-onset of the disease in child.
Sun
Yan
Y
Department of Medical Genetics, West China Hospital, Sichuan University, PR China.
Ding
Lan
L
Wang
You-qi
YQ
Zhou
Hong-yuan
HY
Zhang
Si-zhong
SZ
D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China; D005192:Family Health; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D050396:TRPP Cation Channels / Q000235:genetics*
D050396:TRPP Cation Channels