PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data

Conclusion Although analysis of additive informative polymorphic markers can overcome the misleading haplotype data, it is limited because of the lack of other highly polymorphic microsatellite markers closer to the gene. Direct mutation screening can identify the causative mutation in the apparently unlinked pedigree; moreover, it is the only approach to achieve the confirmed diagnosis in individuals with equivocal imaging results.
Source: Kidney Research and Clinical Practice - Category: Urology & Nephrology Source Type: research