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Define the karyotype of the aneuploidy, algone with indicating the genre that it affects the most:
Turner Syndrome
Monosomy X; females
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Define the karyotype of the aneuploidy, algone with indicating the genre that it affects the most:
Triple X
trisomy X; females
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Define the karyotype of the aneuploidy, algone with indicating the genre that it affects the most:
Kleinfelter's syndrome
XXY; males
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Define the karyotype of the aneuploidy, algone with indicating the genre that it affects the most:
Jacob's syndrome
XYY; males
-
Define the karyotype of the aneuploidy, algone with indicating the genre that it affects the most:
Down syndrome
trisomy 21; either
-
Define the karyotype of the aneuploidy, algone with indicating the genre that it affects the most:
Edward's syndrome
trisomy 18; either
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Define the karyotype of the aneuploidy, algone with indicating the genre that it affects the most:
Patau syndrome
trisomy 13; either
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Name the five assumptions for Hardy-Weinberg equilibrium.
- 1. Sexual reproduction (not clonal lineages)
- 2. Large (infinite at best) population size
- 3. Random mating (independence of alleles)
- 4. No selection
- 5. No mutation or migration
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What is assortative mating?
mating with individuals of similar genotype (thus phenotype)
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What are cyclins?
type of protein involved in cell cycles checkpoint control
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If a cell need to under go mitosis, what 5 steps occur involving E2F and pRB?
- 1. Cyclins attach to Cdk's
- 2. Cylcin-Cdk complex bind to pRB-E2F
- 3. Complex phosphorylates pRB
- 4. pRB releases E2F
- 5. E2F is free to activate transcription of DNA to produce proteins for S phase
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What is the meiotic mantra?
- MI - reductional division
- - homologous chromosomes pair
- - homologous chromosomes recombine
- - homologous chromosomes segregate
- MII - equational division
- - sister chromosomes separate
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What is aneuploidy?
having an extra or missing chromosome
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Inheritance: what does male-male transmission mean
cannot be X-linked
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Inheritance: name 2 patterns seen with X-linked dominant diseases.
- daughters of affected males are always affected
- more affected females
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Inheritance: name a pattern of hemizygous lethal, x-linked dominant diseases.
only females affected in every generation
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Inheritance: Name 2 patterns seen with X-linked recessive diseases.
- many more males affected
- no male-male transmission
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What is Xist?
produces RNA that coats the X-chromosome and condenses into a Barr body
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Which X expresses Xist?
inactive
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Which X expresses Tsix?
active
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What inhibits Xist expression?
Tsix
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What is expressivity?
same genotype but different variable phenotype
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What is pleiotropy?
one gene -> many phenotypic effects
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What is genetic heterogeneity?
One phenotype -> many possible genes
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What is haplosufficient?
50% of the functional gene product is sufficient
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Draw the cell cyle
 - M = mitosis
- G1 = gap 1, growth phase
- G0 = resting state outside the cycle
- I = interphase
- S = synthesis, DNA replication
- G2 = gap 2, growth phase
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