Page 62 - PCC08

MAT = maternal / oocyte contribution
PAT = paternal / sperm contribution
Results: Trisomy 15 Blastocysts – SNRPN
ICR
SNRPN
~66% MAT
Human 15q11‐13 OR MAT ~33%
me et al, 2016
Methylation MAT PAT
PAT Methylation PAT
T1501 SNP G: 58%
T1514 SNP G: 69%
T1540 SNP G: 89%
T1503
T1534
T1541
SNP G: 66%
SNP G: 65%
SNP G: 66%
T1505
T1535
T1542
SNP G: 67% T1506
SNP G: 65% T1536
SNP G: 62% T48
SNP G: 68% T1507 SNP G: 68%
SNP G: 86% T1537 SNP G: 66%
SNP G: 64%
Denom
Summary: Trisomy 15 Blastocysts
100% 90% 80% 70% 60% 50% 40% 30% 20% 10% 0%
TRISOMY 15:
SNRPN
Chr 15
H19
Chr 11
KCNQ1OT1
Chr 11
Chr 15: All Trisomy 15 blastocysts had ~66% methylation at SNRPN, suggesting maternal gain in the oocyte for the 3rd chromosome 15.
Chr 11: Diploid chromosome; H19 and KCNQ1OT1 unaffected at 50% methylation.
Denomme et al, 2016
Page 56 of 102
62
Percent Methylation