Figure 2.

Threshold determination in BWS via methylation hybridization. A: Examples of autoradiographs from the validation group for the two loci. Absence of maternal methylation pattern is more obvious and complete in LIT1 when compared with the mostly incomplete hypermethylation of H19. Methylation index (MI) = top band/sum (see Materials and Methods) provided below. B: Based on the methylation indices for the validation group, diagnostic thresholds for the diagnosis of BWS were determined as <0.38 (LIT1) and >0.65 (H19), corresponding to mean control ± 2 σ (details see methods; P values provided in Table 3). NL, nonaffected individual; BWS, clinical diagnosis of BWS.