Pedigree of the family 42 and possible haplotypes for the PKD1 (top) and PKD2 (bottom) associated polymorphic markers. Black boxes or circles indicate the affected and empty ones the healthy family members. Numbers indicate lengths of PCR products (in bp) for different alleles of the chosen microsatellites. Names of the PKD1 and PKD2 associated polymorphic markers are located on the left of the haplotype bars. Changes in colour of the haplotype bars indicate possible recombination events. Lod scores and corresponding maximal recombination fractions (Zmax, Θmax) were calculated for KG8 (-0.86919, 0.035), AC2.5 (-1.738298, 0.035), CW3 (-0.869292, 0.035) and CW2 (-1.738492, 0.035) polymorphic markers. Negative values Zmax indicate exclusion of linkage to PKD1. KG8 lies within 3'-part of the PKD1 gene and the other markers are located proximally to the PKD1 on 16p13.3.
Vouk et al. BMC Medical Genetics 2006 7:6 doi:10.1186/1471-2350-7-6