Fig. 2.
Fig. 2. (A) RT-PCR products of proband LI-1 and controls using primers AP1 and AP2 (see Fig 1). Ethidium bromide-stained 2% agarose gel is on the left and autoradiograph of Southern blot of the gel, hybridized with oligoprobe OP, is shown on the right. The lanes are represented by M: ◊X174 RF DNA-HaeIII; 1 and 3: normal controls; 2: LI-1 (proband); 4 and 5: CI-1 and CI-2 (asymptomatic heterozygotes); and 6: CII-1 (homozygote for the IVS 2-654 mutation). (B) Radioactive RT-PCR of β mRNA of probands and controls using primers AP3 and radiolabelled AP2 after 20 cycles of amplification. The mutant (β654) and normal (βN) cDNAs are 503 and 430 bp, respectively. The lanes are represented by M: pBR322 DNA-Msp I marker; 1: Proband LI-1; 2: Proband LII-3; 3: CII-1 (homozygote for β IVS 2-654); lanes 4 to 9: asymptomatic heterozygote controls; 10: AH (β IVS 2-654/(Aγδβ)0 thalassemia); 11: normal control.

(A) RT-PCR products of proband LI-1 and controls using primers AP1 and AP2 (see Fig 1). Ethidium bromide-stained 2% agarose gel is on the left and autoradiograph of Southern blot of the gel, hybridized with oligoprobe OP, is shown on the right. The lanes are represented by M: ◊X174 RF DNA-HaeIII; 1 and 3: normal controls; 2: LI-1 (proband); 4 and 5: CI-1 and CI-2 (asymptomatic heterozygotes); and 6: CII-1 (homozygote for the IVS 2-654 mutation). (B) Radioactive RT-PCR of β mRNA of probands and controls using primers AP3 and radiolabelled AP2 after 20 cycles of amplification. The mutant (β654) and normal (βN) cDNAs are 503 and 430 bp, respectively. The lanes are represented by M: pBR322 DNA-Msp I marker; 1: Proband LI-1; 2: Proband LII-3; 3: CII-1 (homozygote for β IVS 2-654); lanes 4 to 9: asymptomatic heterozygote controls; 10: AH (β IVS 2-654/(Aγδβ)0 thalassemia); 11: normal control.

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