Fig. 3

Identification of the breakpoints of the three deletions. a A 800-bp PCR product was amplified by gap-PCR using primers F1 and R1 in I3, II2 and III1. No PCR product was observed from I1, I4, II1 or the control. The sequencing results showed that the deletion junction was characterized by a 4-bp microhomology. The 5′ breakpoint was located within coordinates 78,331,189 and 78,331,193, the 3′ breakpoint was located within coordinates 78,508,394 and 78,508,398. M: marker, N: normal individual. b A 900-bp PCR product was amplified by gap-PCR using primers F2 and R2 in II1 and III1. No PCR product was observed from I1, I3, I4, II2 or the control. The sequencing results showed that the 5′ breakpoint was located at 78337741, the 3′ breakpoint was located at 78351002. c A 1300-bp PCR product was amplified by gap-PCR using primers F3 and R3 in II1 and III1. No PCR product was observed from I1, I3, I4, II2 or the control. The sequencing results showed that the 5′ breakpoint was located at 78368802, the 3′ breakpoint was located at 78422707. The deletion junction inserted ATACACACACAC. The 3′ flanking regions were characterized by (AT)n(AC)n repetitive sequences. d Schematic representation of the three deletions. The deletion inherited from proband’s mother is represented as a red bar. The other two deletion are represented as blue bars