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Lecture 2

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What are the physical characteristics associated with a benign neoplasm?
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Encapsulated, no infiltration/metastisis, usually no tissue damage, doesn't usually cause death unless interferes with vital functions.
Give some examples of carcinogens.
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Drugs Radiation Cigarette smoke Toxins
It is r/t an error in DNA replication (change in genetic code) resulting in the inability to make proteins or to make defective proteins.
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What is a gene mutation.
In what way are the bases arranged in DNA?
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Triplet code/ codon.
What is each codon a code for?
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An amino acid.
What is DNA?
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It consists of chains of nucleotides, which contain 1 of 4 possible bases.
What is a gene?
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Segment of DNA that provides instruction for sythesis of proteins. Genes attach end to end in long DNA molecules.
What is made up of a DNA molecule, wound around a protein core?
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Chromosomes
Body cells (except gametes) contain 23 pairs of chromosomes, what types of chromosomes make up the 23 pairs?
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22 autosomes + 1 sex chromosome
What could cause a gene mutation?
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exposure to chemicals, radiation, other environmental agents.
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Explain trisomy 21?
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Down syndrome results when chromosome 21 has 3 copies instead of 2.
What occurs in the case of monosomy?
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Incompatible with life.
If a person is heterozygous, is the recessive trait expressed?
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Recessive trait is not manifested but person is a carrier.
When are recessive traits expressed?
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In homozygous pairings.
Are dominant traits expressed in homozygours or heterozygous pairings?
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Both.
How are inheritance patterns determined?
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The patterns are tranmitted through gametes, following Mendel's laws: the zygote receives chromosomes from each parent cell, to make a paired set. 2 genes for each trait, called alleles.
What are the functions of the genetic aspects of a cell?
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directs protein synthesis determines inheritance patterns
When is an autosomal recessive disorder expressed?
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The defective gene is in autosome and is recessive. Will only express if there are 2 recessive (defective) genes.
Explain sickle cell anemia.
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Defective hemoglobin molecule, RBC becomes sickle shaped under certain conditions (hypoxia, infection, expousre to cold, stress). One gene results in one defective amino acid. the sickle shape sticks in vessels causing occlusion which leads to ischemia. The cells get destroyed because they are the wrong shape.
Give an example of an autosomal recessive disorder.
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sickle cell anemia
Give an example of an autosomal dominant disorder.
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Marfan's syndrome
  
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