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Figure 3 | BMC Medical Genetics

Figure 3

From: A wide spectrum of clinical and brain MRI findings in patients with SLC19A3mutations

Figure 3

Identification and characterization of a disease mutation (c.958G > C, [p.E320Q]). (A) The sequence analyses showed a G to C substitution at nucleotide position 958 in Exon 3 of SLC19A3, resulting in a substitution of glutamic acid at codon 320 for glutamine (c.958G > C, [p.E320Q]), indicated by an arrow. (B) RsaI (GTAC)-digested PCR products were run through a 1.2% agarose gel. Digestion of products containing the E320Q mutation resulted in 357- and 86-bp fragments. All patients (V-2, V-3, V-4 and V-6) were homozygous for the mutation, and their parents were heterozygous for the mutation. (C) [3H]-thiamin uptake by HEK293 cells expressing wild-type or E320Q SLC19A3. Two days after transfection, cells were incubated with 0.1 μM of [3H]-labeled thiamin (14.8 kBq:0.74TBq/mmol) for 10 min with or without 0.1 mM unlabeled thiamin. Incorporated [3H]-thiamin was measured using a liquid scintillation counter. Results are expressed as mean ± SE of specific uptake values from three independent experiments.

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