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. 2019 Dec 23;21(1):114. doi: 10.3390/ijms21010114

Figure 2.

Figure 2

Scheme for generating a delins c.1007-1666_c.1180 + 2113delinsTT between intron 7 and intron 8. (A): Scheme for generating a delins c.1007-1666_c.1180 + 2113delinsTT between intron 7 and intron 8, leading to the loss of exon 8 in open reading frames. PCR using a primer pair flanking the delins site was used to detect this mutation in one infant and the carrier mother. Lanes M, wild-type, infant, and mom, corresponding to DNA size markers, wild type control, infant, and the mother. (B): Electropherogram showing the sequences of PCR products flanking the breakpoint created in this delins; note a dinucleotide TT insertion is shadowed.