Genetics Mini1 Part2

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  1. Why no homozygous Dominant disease?
    • Rare because Tt will exhibit disease phenotype so hard to find two Tt healthy together
    • Familial hypercholesterolnemia
  2. why mutations rare for recessive disease
    • you need to have mutations on both allels
    • dominant disease only need to mutate 1 allel
  3. Cystic fibrosis
    • auto -receissive
    • carrier rate 1/25
  4. Loss of function
    • half protein production from normal allel
    • only dominant form is inhereted, recessive form makes 0 protein and aren't fit
  5. Loss of function
    • body compensates when protein function is compromised
    • only recessive form of the disease is inhereted, domainant form does not have disease at all
  6. Gain of function
    • dom inheretence, recessive form has too much bad protein
    • no compensation
  7. X- linked
    • either dom or rece boys can only get it from mother
    • dom has more girls affected than boys but can affect boys more than girls
    • rec has more boy affected
  8. Penetrance
    • % of genotypically diseased patients that will actually develop disease phenotype
    • 95% penetrance = 95% of people with disease will show phenotype while 5% will be normal dispite disease genotype
  9. sex limited inheretence
    • autosomal disease
    • express sexual biase due to physiological difference between sexes
  10. Hypothosphatemia
    x-linked dom
  11. Camptodactyly
    • auto-dom
    • variable expressivity
  12. Mitochodrial Inheritance
    • mother will pass disease to all her children
    • affected males will not pass on disease
  13. Hermaphrodite
    • Presence of both ovarian and testicular tissue
    • 46XX with SRY(induce male sex)
    • or mosiac of 46XX/46XY
  14. Female Phenotype Male Genotype
    • Androgen Insensitivity Syndrome
    • 5alpha-reductase type 2 deficiency
    • SOX or AR genetic mutation (SRY downstream protein abnormalities)
  15. Male Phenotype Femal Genotype
    • Prenatal exposure to progesterone or androgen
    • 11 - hydroxylase dificiency
    • 21- hydroxylase deficiency
  16. Adreno Genital Syndrome
    • progestins are blocked from forming corticosteroids
    • lack of coticosteroids remove inhibition of ACTH release from pituatray resulting in more progestins
    • alternative pathway for progestins are androgens
    • over production of androgens leading to viralization
  17. 21 hydroxyase deficiency
    • hyperprogesteron
    • hyperdeoxycorticosterone( hypermineralocorticoids) leading to hyperkalemia and hyponatremia
    • hyperandrogen - viralency
    • Hypocortisol - no feedback to decrease progesteron
  18. 11 hydroxylase deficiency
    • hyperprogesteron
    • hypocorticosteron - hypokalemia
    • hyperandrogen - viralency
    • hypocortisol - no feedback to decrease gorgesteron
  19. Androgen insensitivity
    • x-linked recessive
    • androgen receptor defective
    • either full or partial (from partial active genes)
    • phenotypically female but with undescended testis
    • amenorrhea - because its a he not a she
  20. 5a-reductase type 2 deficiency
    • cannot conversion to fully active version of testosterone
    • phenotypically female during childhood
    • viralization can happen during puberty
  21. Huntington's Disease
    • Autosomal Dom
    • late phenotype of disease
    • linked markers are used to do testing for potential inheretence of diease
  22. Hemophlia
    x-linked recessive disease
Card Set
Genetics Mini1 Part2
Genetics Mini1 Part2
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