Exam 1 Flashcards
Compare and contrasts terms constitutional and congenital
Both present at birth, constitutional is on cellular level while congenital is phenotypic
what is an obligate carrier
parents of a child who has a autosomal recessive conditioon
what are mendel’s 3 principles
unit inheritance, segregation and independent assortment
define unit inheritance
parental phenotypes do not blend
define segregation
genes exisst in pairs and only one copy of each pair is transmitted –> offspring
define independent assortment
genes at different loci are transmitted independent from one another
what are the trademarks of autosomal dominant inheritance
vertical transfer, male to male transfer, variable expressivity and incomplete penetrance
Marfan syndrome is an example of what kind of inheritance
autosomal dominant
Achondroplaysia is an example of what kind of inheritance
autosomal dominant
What type(s) of inheritance may result in conditions skipping generations
autosomal recessive–you don’t always know who in the family was a carrier
what are the trademarks of autosomal recessive inheritance
Often consanguinity, ethnic predisposition, usually one generation affected
cystic fibrosis and sickle cell anemia are both examples of __ __ inheritance
autosomal recessive
Why do females show mild expression of x-linked recessive mutations
skewed lyonization
Give two examples of x-linked recessive disorders
hemophilia and duchenne’s muscular dystrophy
x-linked recessive disorders are more common in which gendder
men
x-linked dominant disorders are more common in which gender
females
what kind of inheritance do mitochondrial genetics follow
autosomal recessive
define heteroplasmy
mix of normal and abnormal mtDNA
define homoplasmy
uniform mtDNA (abnormal or normal)
how is mtDNA assorted in daughter cells
randomly
what tissues are more likely to be affected by mtDNA and why
muscle and brain–they have higher energy requirements and therefore more mt in them
name 4 disorders involving trinucleotide repeats
Huntington’s, Fragile X, Mytotonic muscular atrophy and spinobulbar muscular atrophy
What category of disease do Bloom’s and Werner’s syndromes fall under
helicases
what is heterodisomy the result of
nondisjuntion at meiosis I
