LECTURE VII Flashcards
CHECK ON LEARNING
both males and females can be affected but only females can transmit the disease to their offspring
0% offspring affected male but 100% offspring affected female will manifest the mitochondrial disease
non Mendelian inheritance
mitochondrial inheritance
what are some syndromes of mitochondrial dysfunction? what are the affects?
leigh syndrome pearson syndrome MERRF NARP MELAS Alpers syndrome MNGIE Kearns-Sayre syn MIDD SANDO
debilitating physical, developmental, cognitive, loss of muscle coordination, muscle weakness, poor growth, seizures, hearing or vision loss, GI issues and organ failure
this type of autosomal disease appears in every generation
unaffected members do not pass on disease
affected members are usually heterozygous and if mating partner is normal there is a 50% chance of affected offsprings
males and females affected equally
autosomal dominant disease
neurofibromatosis huntington disease dentinogenesis imperfecta achondroplasia familial hypercholesterolemia familial breast cancer ALDH2 deficiency
what type of autosomal disease are these?
autosomal dominant disease
this type of autosomal disease appears only in siblings, not in parents, offspring or other relatives
quarter of siblings are affected
parents of affected child are often consanguineous from the same gene pool
males and females are likely affected
autosomal recessive disease
cystic fibrosis PKU Tay Sachs Disease Tyrosinemia Hereditary hemochromatosis Sickle cell anemia
what type of autosomal disease is this?
autosomal recessive disease
name this type of disease?
affected males with normal mates have no normal daughters or affected sons
affected females who are heterozygous transmit the condition to half their children of either sex. They can’t distinguish from autosomal dominant if female is affected
females more affected than males, but affected females have milder expression of phenotype
x-linked disease
hypophosphatemia
ornithine transcarbamylase
rett syndrome
x-linked disease
what is vitamin D resistant rickets or familial hypophosphatemic rickets due to?
x-linked disease due to mutations in the phosphate regulating gene (PHEX) leading to wasting of phosphate and so bones cannot mineralize
ornithine transcarbamylase deficiency leads to what in males?
hyperammonemia
this x-linked syndrome is a significant neurologic disorder leading to mental retardation
occurs in females
MECP2 mutation
rett syndrome, x-linked disease
this type of x-linked disease is higher in males than females so it is expressed in all males carrying the trait and only in homozygous females
trait is passed from affected man to 100% daughters and half grandsons
no father-son transmission
transmitted via female carriers
heterozygous female may or may not express the condtion
x-linked recessive disease
Hemophilia A
Duchenne muscular dystrophy
Bruton agammaglobulinemia
G6Phosphate dehydrogenase
what type of disease are these collectively?
x-linked recessive disease
what could explain genetic disease with family history?
new genetic mutation variable expressivity late onset unlikely a genetic disease incomplete pedigree or error
a trait influenced by many genes, each having a small but additive effect on phenotype?
influenced by many genes
inheritance depends on common genes
expressed as continuous
frequency distribution follows normal probability curve
polygenic trait
