Fig. 3.

Breakpoint confirmation by genetic methods

(a) 763-bp product was obtained from the patient and her parents, while no amplicons were detected for the normal control since the 18 015-bp product from the normal allele might be too large to amplify in this experiment. M: DNA marker I; P: patient; PF: patient’s father; PM: patient’s mother; Con: control. (b) 763-bp fragment from the patient revealed the 5' and 3' breakpoints within introns 1 and 6 and the 14-bp short homology across the breakpoints is shown in the box. (c) FERMT1 genomic region spans exons 1–7, and the 17 252-bp deletion is delineated with a dashed line. P: primer