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To investigate the impact of blastocyst aneuploidy on genomic imprinting
Euploid ICR: one methylated contribution and one unmethylated contribution, having an expected DNA methylation level of ~50%.
Human 15q11‐13
ICR
SNRPN
Human 11p15.5
H19
ICR
MAT = maternal / oocyte contribution
PAT = paternal / sperm contribution
MAT
~50% Methylation
PAT
ICR
KCNQ1OT1
Denomme et al, 2016
Summary: Euploid Blastocysts
100% 90% 80% 70% 60% 50% 40% 30% 20% 10% 0%
SNRPN
Chr 15
H19
Chr 11
KCNQ1OT1
Chr 11
EUPLOID:
All imprinted genes analyzed in euploid blastocysts (n=34) had the expected 50%
methylation.
Denomme et al, 2016
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PRECONGRESS COURSE 08 I BARCELONA, SPAIN – 1 JULY 2018 61
Percent Methylation