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Why no homozygous Dominant disease?
- Rare because Tt will exhibit disease phenotype so hard to find two Tt healthy together
- Familial hypercholesterolnemia
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why mutations rare for recessive disease
- you need to have mutations on both allels
- dominant disease only need to mutate 1 allel
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Cystic fibrosis
- auto -receissive
- carrier rate 1/25
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Loss of function
Haploinsufficiency
- half protein production from normal allel
- only dominant form is inhereted, recessive form makes 0 protein and aren't fit
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Loss of function
compensation
- body compensates when protein function is compromised
- only recessive form of the disease is inhereted, domainant form does not have disease at all
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Gain of function
- dom inheretence, recessive form has too much bad protein
- no compensation
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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
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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
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sex limited inheretence
- autosomal disease
- express sexual biase due to physiological difference between sexes
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Hypothosphatemia
x-linked dom
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Camptodactyly
- auto-dom
- variable expressivity
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Mitochodrial Inheritance
- mother will pass disease to all her children
- affected males will not pass on disease
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Hermaphrodite
- Presence of both ovarian and testicular tissue
- 46XX with SRY(induce male sex)
- or mosiac of 46XX/46XY
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Female Phenotype Male Genotype
- Androgen Insensitivity Syndrome
- 5alpha-reductase type 2 deficiency
- SOX or AR genetic mutation (SRY downstream protein abnormalities)
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Male Phenotype Femal Genotype
- Prenatal exposure to progesterone or androgen
- 11 - hydroxylase dificiency
- 21- hydroxylase deficiency
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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
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21 hydroxyase deficiency
- hyperprogesteron
- hyperdeoxycorticosterone( hypermineralocorticoids) leading to hyperkalemia and hyponatremia
- hyperandrogen - viralency
- Hypocortisol - no feedback to decrease progesteron
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11 hydroxylase deficiency
- hyperprogesteron
- hypocorticosteron - hypokalemia
- hyperandrogen - viralency
- hypocortisol - no feedback to decrease gorgesteron
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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
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5a-reductase type 2 deficiency
- cannot conversion to fully active version of testosterone
- phenotypically female during childhood
- viralization can happen during puberty
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Huntington's Disease
- Autosomal Dom
- late phenotype of disease
- linked markers are used to do testing for potential inheretence of diease
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Hemophlia
x-linked recessive disease
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