Figure 2.

High-resolution melting analysis of a variant X⁻ CGD family with a mutation in a three-domain melting curve. In the pedigree, black squares are affected males, gray squares are normal males, and half-black circles are heterozygous carrier females. Melting analysis of all family members and the wild-type control subjects clustered together except for exon 9. A: Normalized exon 9 melting curves after overlay reveals two clusters. Unaffected males, normal controls, and affected males without mixing are shown in gray. Heterozygous females and affected males mixed with wild-type DNA are shown in black. B: The differences between clusters are easier to see in “difference plots,” where all curves are subtracted from the wild-type average. Exon 9 sequencing of the affected males revealed a c.1016C>A mutation, also present in the carrier females in heterozygous form.