a-b: Segregation pattern of genetic variation in family F. Parents of the two affected are 1st cousins. One affected (II.2) is married to his 1st cousin, whereas the other affected (II.4), is married to his 3rd cousin. a Segregation of haplotype and parkin exon 4 deletion. Both patients were homozygous for a haplotype of four parkin microsatellite markers, and an exon 4 deletion was found to segregate with disease in the family. Gray area denotes haplotype containing exon 4 deletion. b Segregation of substitutions observed in PINK1. Both affected are compound heterozygous for the substitutions generally evaluated as common polymorphisms. One of the children, III.2, had a microsatellite mutation or a rarer double recombination (arrow). The fragment lengths of microsatellite markers D6S1599, D6S305, D6S411 and D6S1550 are listed beneath each individual.
Myhre et al. BMC Neurology 2008 8:47 doi:10.1186/1471-2377-8-47