heteroplasmy
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Terms in this set (45)
heteroplasmy
and mixture of functioning and non-functioning mitochondria
myoclonic epilepsy and ragged-red fiber disease (MERRF)
mitochondrial disorder. symptoms: ataxia (lack of muscular coordination), deafness, dementia, and epileptic seizures. targets high energy demanding tissues.
Leber's hereditary optic neuropathy
mito disorder. symptoms: bilateral blindness, mutation in protein needed for oxidative phosphorylation
Kearns-Sayre Syndrome
mito disorder. symptoms: loss of vision, hearing loss, heart conditions
maternal inheritance
inheritance of characters transmitted through extranuclear elements (as mitochondrial DNA) in the cytoplasm of the egg.
maternal influence
Offspring's phenotype under control of a factor present in the egg cytoplasm (ooplasm)- especially an mRNA or protein encoded by mother's nuclear
genome, or maternal gamete genome. (offspring phenotype dependent on mother's genotype)
genomic imprinting
Expression of a gene is influenced by which parent donated it.
Certain genes are silenced from one parent or another, allowing ONLY the other parent's allele to be active.
Prader-Willi syndrome
example of genomic imprinting: Father chromosome 15 has deletion, only undeleted mother 15 remains. Developmental delays, obese, small hands & feet, uncontrollable appetite, does not undergo sexual maturation.
Angelman Syndrome
example of genomic imprinting: Mother chromosome 15 has deletion, only undeleted father 15 remains. Developmental delays, frequent laughter, large tongue, large jaws, poor muscle tone and coordination, convulsions that make arms flap.
segregational petites
exhibit medelian inheritance patterns