PMC6256173_01
SLC10A1 genotypes of all family members on Sanger sequencing and electrophoresis of the PCR-RFLP products. (A) The two patients were both homozygotes while their parents, carriers, of the c.800C>T (p.Ser267Phe) variant. (B) PCR-RFLP analysis confirmed the SLC10A1 genotypic findings as in (A). In (B), the symbols "+" and "-" denoted with and without digestion of the restriction enzyme HphI, respectively.
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F1
As a result, the twins were both homozygotes of the variant c.800C>T (p.Ser267Phe), and their parents were both carriers of the same variant (Figure 1A). Electrophoresis of the PCR-RFLP products showed that the twins both harbored two additional bands of 164 bp and 65 bp rising from the aforementioned SLC10A1 variant, which further confirmed the SLC10A1 genotypes of all family members (Figure 1B).