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.