Figure 3.

Molecular genetic analysis of MERTK in family W09–0038. A: In the upper panel, PCR analysis of exon 15 of MERTK is shown. Exon 15 was not amplified in the two affected individuals of family W09–0038. All relatives and their position in the pedigree are indicated above the electropherogram. Lower panel: after identification of the breakpoints of the complex rearrangement, PCR primers were designed to amplify a product spanning the deletion. A PCR product indicating the presence of a rearrangement is observed in all individuals demonstrating that the unaffected family members are heterozygous carriers of the deletion. B: Schematic representation of the complex rearrangement in MERTK. A deletion of a genomic region containing exon 15 is accompanied by a duplication and an inversion event.