Figure 2.

SF3B1 sequencing. (A) Agarose gel electrophoresis of SF3B1 allele specific-PCR products. Person 1 exhibited a heterozygote genotype of AG. Persons 2 and 3 exhibited a homozygote wild genotype of AA. A 50-bp molecular weight marker was included as a reference. (B) Electropherogram of Sanger sequencing for PCR products obtained from the SF3B1 wild-type allele (upper chromatogram) and SF3B1 mutant allele (lower chromatogram). PCR, polymerase chain reaction; SF3B1, splicing factor 3B subunit 1.