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. 2020 Jan 30;5(5):727–731. doi: 10.1016/j.ekir.2020.01.009

Figure 2.

Figure 2

Confirmation and definition of GANAB and SEC63 heterozygous deletions. (a,b) Relative allele count of YU331 (a) or YU30 (b) determined by normalized genomic DNA quantitative polymerase chain reaction (qPCR) compared with the mean of 3 controls. Genomic DNA qPCR of an intronic region of GAPDH was used for normalization. Controls are 3 cases without the proposed deletion. Positions noted on hg19. (c) Agarose gel showing PCR product (arrow) using primers spanning the deletion region amplifies in YU331 but not in control. (d) Sanger sequencing of the 1029−base pair product of YU331’s deletion allele identifies the junction of GANAB upstream sequence and intron 18 sequence separated by a 43−base pair sequence present on either side of the breakpoint.