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26 Cards in this Set

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pinched region in the center of chromosome
monosomy (& example)
Missing a chromosome from pair. (Ex: Turner's Syndrome in girls = Instead of XX have XNothing).
trisomy (& Example)
More than two chromosomes of a pair. (Ex: Down's syndrome = three copies of chromosome 21 rather than two).
Humans have how many chromosome pairs?
23 pairs.
What are the parts of the chromosome?
telomeres (arms of X) and centromere (middle part where they intersect)
The 4 nucleotide units
cytosine guanine adenine and thymine
Base Pair
Each base (nucleotide unit) is attached to a phosphate and a sugar (deoxyribose) & binds (via hydrogen link) to a complementary base on the other strand (C with G; A with T).
Organism's complete set of DNA
DNA Sequence
Provides instructions to the cell - telling it what proteins to make.
A duplicate of DNA (Complementary to DNA strand). Once constructed leaves cell nucleus and is read in cell body by a ribosome.
single unit (of 3 nucleotide bases). provides instructions to cell re: which amino acid to construct & add to the protein chain
reads off codons of mRNA & adds amino acids (one by one like beaded necklace) to protein chain.
The complete instructions for constructing a protein. The average gene is about 3,000 bases long.
strings of between 2 and 30 amino acids ("bracelets")
Longer strings of amino acids ("necklaces"; up to several hundred amino acids long)
Protein Complex
Joined proteins that act like machines -- do all the work of the cell.
Give an example of a Protein Complex
Ex2: Proteasomes -- chop up proteins so amino acids can be recycled. Ex2: Dynein complex - little walking machines that transport things along the axon
Junk DNA
Only about 2% of the DNA strands appear to consist of genes; the rest is comprised of "non-encoding" sequences of base pairs which do not encode for proteins (function unclear)
Mitochondrial DNA
Inherited from mother (exact copy unlike nuclear DNA)
single nucleotide polymorphisms
aka SNPs. ~1.4 million locations where the single-base nucleotides differ between people (e.g. CGA versus CTA). Responsible for all phenotypic differences.
Different forms of the same gene. (When there are differences between individuals in the specific trait that a gene codes for (e.g. eye or hair color memory ability)).
Long arm of chromosome
Short arm of chromosome


little walking machines that transport thingsalong the axon. In alzheimer's, their movement is inhibited by plaques!


the physical expression of genes.


Refers to the visual representation of the configuration ofa chromosome.