Fig. 2.

Gel and sequencing analysis of the reverse transcription productions. A, Construction diagram of pSPL3 minigene vector. B.Gel analysis of transcription results. C, cDNA sequencing analysis of the wild-type control group; D and E, cDNA sequencing analysis of the mutant group. The yellow-highlighted region indicates the incorrectly inserted intronic sequence, while the red box marks the stop codon; F, G and H, Sanger sequencing and gel electrophoresis were performed on cDNA samples from the proband’s parents’ peripheral blood. I, Schematic diagram of the genetic structure of ETFDH mutations causing MADD with polycystic kidney disease