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Fig. 2 | BMC Nephrology

Fig. 2

From: CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

Fig. 2

PCR analysis of the CTNS locus structure in the patient’s genome. a. Scheme of the CTNS locus, containing deletion. Alu sequences involved in the deletion are marked in a big arrow (Alu-F (orange) and Alu-R (green)). The positions of the intronic PCR primers are indicated by horizontal arrows. b. PCR fragments analyzed by 1% agarose gel electrophoresis. gDNA was used as PCR template: P - patient; M - mother; F - father; C - control healthy donor. PCR fragment F2 + R2 detected a mutated allele in 3 family members (P, M and F). PCR fragment F3 + R3 detected a WT allele in 2 carrier family members (M and F). c. The alignment of the recombination region. Mutated allele consists of combination of Alu-F and Alu-R sequences. The identical sequence is highlighted in red

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