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Hematology and CellsMedical-Surgical Nursing-7th edition

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Same locus, different allele
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Polymorphism (like blue eyes)
Klinefelter's impacts _______ only. It is _______.
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males, XXY
Turners results from _______ of X chromosome.
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monosomy non-disjunction (X only)
% of people that have a mutation that show phenotype.
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Penetrance
Polygenic diseases are ones that:
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is the result of several genes; occurs in 1st degree relatives.
An example of hemizygous would be...
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XY
_______ segments are the most mutated, but cause no harm.
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Introns
Somatic mutations are _______ from generation to generation.
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not transmitted
Germ cell mutations are _______ from generation to generation.
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transmitted
An autosomal dominant disease will potentially affect _______% of offspring.
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50%
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An autosomal recessive gene will impact _______% of offspring.
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25%
X-linked diseases impact _______ only.
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males
De Novo means:
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no history of disease, spontaneously shows up.
Mitochondrial diseases are passed from mom to what gender?
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Both
The coded regions of RNA are called _______, the non-coded regions are called _______.
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exons = coded, introns = not coded
Transcription occurs in the _______, translation occurs in the _______.
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nucleus, cytoplasm
An amino acid is a _______ protein structure.
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primary
An alpha helix is a _______ protein structure.
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secondary
After _______ mitotic events, telomeres are depleted, causing cell death.
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125
A single cell loses _______ telomeres per mitosis.
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100
TTAGG is called a...
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telomere
  
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