Figure 2. Pedigrees and analysis of the MER tyrosine kinase protooncogene (MERTK) deletion. A: Pedigrees of four Faroese families (882, 232, 233, 4002) with the MERTK deletion. B: Single nucleotide polymorphism (SNP) copy number analysis of a heterozygous carrier showing that the deletion has a size of 91 kb. C: Sequence showing the breakpoints of the 91-kb deletion in a homozygous patient. D: The triple-primer PCR assay generating a deletion-specific fragment of 264 bp and a wild-type fragment of 384 bp; lane 1, wild-type; lane 2, homozygous patient; lane 3, heterozygous carrier; lane M, molecular marker.