[Gene diagnosis of adult polycystic kidney disease--linkage analysis between APKD gene and alpha-globin gene 3'HVR].

Genomic DNA PvuII fragments containing the 3'HVR from 52 unrelated Chinese of Han nationality varied between 1.7 kb and 10.0 kb and showed high polymorphism. The genomic DNA PvuII fragments from five families with adult polycystic kidney disease (APKD) were analyzed using the alpha-globin gene 3' HVR (hypervariable region) as probe. The results showed a close linkage between 3'HVR and the APKD gene and segregation according to Mendelian laws. The maximum Lod score for linkage between 3' HVR and APKD was 3.372 at a recombination fraction theta = 0.01. The alpha-globin gene 3'HVR probe can therefore be used for presymptomatic gene diagnosis and prenatal diagnosis in the Han ethnic group.