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

Figure 2

Detection of a whole hemizygous deletion in the HNF1β gene in leukocyte genomic DNA by MLPA assay. Graphical representation of the HNF1β gene. Chromosome X and Y probes were normalized to the control in the proband (a) and control (b). MLPA results show that all HNF1β probes are expressed in half dosages in the proband relative to the expected heights indicating a whole-gene hemizygous deletion change in HNF1β. The whole-gene deletion of HNF1β is marked with a red arrow and square.

(a)

(b)