Fig. 3

SNP haplotype and breakpoint confirmation of pedigree PSJ22007. (A) Out of 40 CNV detected embryos, 22 were aneuploid (dark blue), 18 were euploid (dark pink), in which 10 were euploid/normal embryos (light pink), 7 were euploid/balanced carrier embryos (light yellow), and the remaining one unknown (light blue); (B) Haplotype diagram flanking breakpoint regions of t(2;15)(p21;q26.1) in pedigree PSJ22007. The gray single chain is the normal chain from female in this family. Red represent the carrier’s normal single chain and blue the paternal carrying chain. Yellow and green indicate the maternal normal single chains. PSJ22007_E1 exhibited the carrier chain color in the effective diploid region near the breakpoints of chr2 and chr15, that was translocation carrier embryo. Both PSJ22007_E2 and PSJ22007_E3 showed normal chain color in the effective diploid region near those breakpoints, being thus normal embryos. The red arrow indicates the targeted position; (C) Examples of informative SNP loci flanking upstream and downstream of two breakpoints in pedigree PSJ22007. The red bold font and pentagram indicate the fracture point region. F0 represent the male’s normal chromatid in red, F1 the male’s translocation chromatid in blue, both M0 and M1 the maternal normal chromatids in yellow and green; (D) Gel analysis of Gap-PCR products. A–C different groups with different primer pairs. The primer sequences and corresponding chromosomal locations are shown in Supplemental Table 12. M: DL2000 Marker; No. 1: PSJ22007 normal female; No. 2: PSJ22007 male carrier; No. 3: PSJ22007_E1; No. 4: PSJ22007_E2; No. 5: PSJ22007_E3; No. 6: the negative control; No. 7: no template control; (E) Sanger sequencing of PSJ22007 male carrier and PSJ22007_E1. The red arrow indicates the breakpoint of 2p21(36,702,101), and the green arrow that of 15q26.1(100,682,799)