Genome Imprinting Flashcards
What is a Hydatidiform mole?
A hydatidiform mole is a growing mass of tissue inside your womb (uterus) that will not develop into a baby. It is the result of abnormal conception.
What is Parthenogenesis?
Bengign ovarian teratomas derived from oocytes which have completed first or both meiotic divisions.
what is genomic imprinting?
regulates the activity of a small subset of human genes.
What is angelman Syndrome?
mental disability and a tendency to jerky movement, caused by the absence of certain genes normally present on the copy of chromosome 15 inherited from the mother.
What is Prader-Willi syndrome?
Inherited condition that causes Infantile hypotonia, mental disability, male hypogenitalism and obesity.
caused by deletion of chromosome 15
What are the genetic abnormalities in Angelman and Prader-willi syndrome?
Deletion of chromosome 15
What 2 conditions are caused by deletion of chromosome 15?
Angelman syndrome and Prader-Willi syndrome.
What is DNA methylation?
DNA methylation is an epigenetic mechanism used by cells to control gene expression.
Occurs at CG dinucleotides.
Where does DNA Methylation occur?
occurs at CG dinucleotides
What is beckwith-weidemann syndrome?
causes fetal overgrowth, organomegaly, hypoglycaemia.
What is russell-silver syndrome?
Growth retardation
Triangular face
assymetry
What is x inactivation?
in X activation the whole gene is silenced.
and it occurs early in embryogenesis.
What are the consequences of X inactivation?
Carriers of X-linked mutations have some functionally defective and some normal cells - functional mosaicism.
