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Fig. 3 | BMC Medical Genetics

Fig. 3

From: A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report

Fig. 3

Identification of the novel mutation in the PKD1 gene. a Direct sequencing revealed a heterozygous splice mutation (c.2854-3C > G) in inton11. a1: DNA sequence of the patients, a2: DNA sequence of the healthy controls, b Direct mRNA sequencing, b1: Agarose gel electrophoresis for RT-PCR. b2: mRNA sequence of the patients. b3: mRNA sequence of the healthy controls. c The confirmation of transcription by the TA clone. c1:The normal patients’ isoforms by TA cloning. c2: The mutant patients’ isoforms by TA cloning. d The patients’ frameshift mutation. ★-mutant base and ▲-inserted bases. Samples of patients and controls were tested under the same conditions, including equal amounts of sample (peripheral blood and RNA) and experimental conditions

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