Figure 1

Schematic diagram of CNVs at the LEPR gene locus. Genomic structures of LEPR and LEPROT genes, including exons, are shown. E2 DNA content relative to the Factor VIII gene from 20 subjects is displayed in the lower panel. Primer target sites (P1 to P7) for QMPSF are indicated along the LEPR sequence. P2* indicates the primer target site for detection of the initial copy number at the LEPR locus. P1 and P2 primer target sites were highly variable for copy number among the 19 individuals tested, but the other primer sites were not.