Figure 4.
Side-by-side comparison of RT-NPCR (RNA test) and IS-PCR (DNA test) results. See Tables 3 and 4 for an explanation of the bands visualized on these agarose gels. (A) Representative RT-NPCR to detect Inv22 mutations. Lane 1, molecular weight (MW) ladder; lanes 2 and 3, normal control (N) subject; lanes 4 and 5, carrier-Inv22 (C) subject with a type 2 Inv22 mutation; lanes 6 and 7, HA subject with a type 1 Inv22 mutation; lanes 8 and 9, HA subject with a type 2 Inv22 mutation. The 225-bp band is amplified from the N and C samples. The 378-bp band is amplified from the C and HA-Inv22 type 1 or type 2 mutation samples. (B) Representative IS-PCR to detect Inv22 mutations using DNA samples from the same subjects shown in panel A. Lanes 2, 4, 6, and 8 show diagnostic IS-PCR results for the N, C, HA-Inv22-type 1, and HA-Inv22-type 2 samples, respectively. Lanes 3, 5, 7, and 9 show complementary IS-PCR tests for the same samples. Lanes 1 and 10, MW ladder. (C) Representative RT-NPCR to detect Inv1 mutations. Lane 1, MW ladder; lanes 2 and 3, normal control (N) subject; lanes 4 and 5, carrier-Inv1 (C) subject; lanes 6 and 7, HA-Inv1 subject; lane 8, MW ladder. The 413-bp band is amplified from the N and C samples. The 500-bp band is amplified from the C and HA-Inv1 samples. (D) Representative IS-PCR to detect Inv1 mutations using DNA samples from the same subjects shown in panel C. Lanes 1 and 2, MW ladder; lanes N, C, and HA show IS-PCR results for the N, C, and HA-Inv1 subjects.