Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age

Figure 1

Detection of the exon 5–6 hemizygous deletion in the GCK gene in leukocyte genomic DNA by MLPA assay. Graphical representation of the GCK gene. Chromosome X and Y probes were normalized to the three control samples in the proband (a) and control (b). GCK probes in exons 5 and 6 are expressed in half dosages in the proband, indicating the deletion of exon 5–6. The exon 5–6 deletion is marked with a red arrow and square.

(a)

(b)