Exact(6)
Human maternal hypomethylation syndrome, in which LOM occurs at multiple maternal loci, is an imprinting disorder.
Six individuals homozygous for this alteration had abnormal methylation at some paternal and maternal loci and four also had severe oligospermia.
Effects that are seldom analyzed are the interaction between a maternal genotype at one locus and a child genotype at another locus, and the interaction of two maternal loci to raise the disease risk in their offspring.
A second indirect approach, which was explored around the same time, involved epigenetic differences of methylation to distinguish placental (fetal) genetic loci from maternal loci (Refs 31, 32, 38, 39, 40).
The purpose of this study is to investigate the application of log-linear methods to test the interactions between a maternal genotype at one locus and a child genotype at another unlinked locus and between two unlinked maternal loci.
It is necessary to reiterate that the major problem still hampering the use of fetal cf-DNA for the noninvasive detection of fetal genetic loci that are not distinct from maternal loci is that fetal sequences constitute only 5 10% of the total cf-DNA in maternal plasma, and even less in maternal serum (Refs 17, 18, 19).
Similar(2)
In the mammalian H19/ Igf2 locus, direct transcriptional activation can be distinguished from indirect effects from the surrounding chromatin thanks to information obtained from the analysis of the function of CTCF in the spatial organization of the maternal locus.
This assumption was justified since social mother and offspring had no mismatches except for one mismatch at a single locus, probably due to a scoring error (as suggested by homozygosity at the maternal locus).
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