Principles of Genetic Inheritance Flashcards
mtDNA problems
no repair mechanisms, HELLA mutations
mt Inheritance Pedigree
all of mother’s offspring are affected
Leber’s Hereditary Optic Neuropathy (LHON)
degeneration of retinal ganglion cells
caused by mtDNA point mutation affecting NADH dehydrogenase
Myoclonic Epilepsy and Ragged Red Fibers (MERRF)
caused by mutation in the gene encoding for tRNA for lysine, which messes up the synthesis of cyt-C oxidase
(muscles and nerves)
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)
-most common maternally-inherited mt disease-
caused by single point mutation preventing pyruvate use, making body use lactic acid
What is a euploid?
cells with a normal number of chromosomes
Polyploidy
cells contain a complete set of extra chromosomes in cells (plants)
Aneuploidy
cells contain a missing or additional individual chromosome(s)
–monosomy, trisomy
Genomic Imprinting
gene silencing through methylation of 5’ region of gene
Uniparental Disomy
two chromosomes are inherited from the same parent
Turner Syndrome
Karyotype: 45, XO (missing an X)
short, do not go through puberty, infertile, cv defects
Angelman Syndrome
maternal deletion of chromosome 15, severe intellectual disability
Prader-Willi Syndrome
paternal deletion of chromosome 15, short, obese, uncontrolled eating, intellectual disability
Angelman Syndrome
maternal deletion of chromosome 15, severe intellectual disability
Klinefelter Syndrome
Karyotype: 47, CXXY