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79 Cards in this Set

  • Front
  • Back
Genes
-the basic units of inheritance
-found in chromosomes
-composed of sequences of DNA
-are the blueprints for protein
DNA
-primary constituent of chromatin
What are the 3 basic components of DNA?
1. sugar molecule (deoxyribose)
2. phosphate molecule
3. 1 of 4 nitrogenous bases
What are the 4 nitrogenous bases
1. Cytosine
2. thymine
3. Adenine
4. Guanine
How are the 2 strands of DNA held together in the double helix?
Weak hydrogen bond
Nucleotide
a DNA subunit containing deoxyribose, phosphate and one base
Adenine pairs with _______
thymine
Guanine pairs with ______
Cytosine
Polypeptide
intermediate protein compound, a single linear chain of amino acids
What are proteins composed of?
one or more polypeptide
amino acid
organic acid containing NH2
What are polypeptides composed of?
sequences of amino acids
codons
a series of 3 bases in DNA or RNA molecule that codes for a specific amino acid
Explain why genetic code is universal
all living organisms use the same DNA code to specify protiens except mitochondria
complementary base pairing
2 nucleotides on opposite side of DNA or RNA strand. Combined by hydrogen bond.
DNA polymerase
important enzyme in DNA replication. Travels along DNA strand and adds correct nucleotide free end of new strand. Also proofreads final product and corrects errors.
Mutation
any inherited alteration of genetic material
Base pair substitution
One base pair is replaced by another
Misense mutation
a type of base pair substitution. Results in a change in amino acid sequence. May have no consequence due to redundancy of genetic code.
Silent substitution
base pair substitution where amino acid change doesn't occur
Frameshift mutation
Insertion or deletion of one or more base pairs to DNA molecule. Can change entrie frame and greatly alter amino acid sequence.
mutagens
agents that increase the frequency of mutation
examples of mutagens
radiation-forms electrically charged ions that can chemically change DNA bases.

Chemicals-can change bases because they are chemically similar to DNA.
*nitrogen mustard
*vinyl chloride
*alkylating agents
*formaldehyde
*sodium nitrite
spontaneous mutation
mutation that occurs in the absence of exposre to mutagens.
mutational hotspot
area of the chromosome that have high mutation rates
DNA is formes and replicated in the ______
nucleus
Where does protein synthesis occur?
Cytoplasm
RNA
nucleic acid that's chemically similar to DNA. Mediates transcription and translation for protein formation.
How is RNA different from DNA?
1. ribose sugar molecule
2. uracil base not thymine base
3. single strand
uracil pairs with _____
adenine
transcription
process by which RNA is synthesized from a DNA template and results is formation of mRNA
transcription process
1. DNA molecule
2. RNA polymerase binds to promoter site on DNA
3. RNA ppolymerase pulls apart DNA strands
4. exposed strand provides sequence for mRNA nucleotides
5. mRNA is complementary to DNa base.
6. transcription continues until termination sequence
7. RNA polymerase detaches and mRNA freed to move into cytoplasm
heterogenous nuclear RNA
mRNA after it's first transcribed and an exact replica of the DNA sequence
What happens in eukaryotic cells after transcription before mRNA released into cytoplasm?
nuclear enzymes remove RNA sequences and splice together remaining sequences to form functional mRNA
intron
excised RNA sequences that are left in the nucleus
exon
RNA sequences left to code for proteins
translation
the process by which the RNA directs the synthesis of polypeptide
Where does protein synthesis occur
Ribosome
translatioon steps
1. ribosome binds to initiation site of mRNA
2. ribosome moves along mRNA codone by coden and binds tRNA to its surface for base pairing of tRNA and mRNA
3. as codon is processed a amino acid translated by interaction of mRNA and tRNA
4. ribosome provides enzyme that catalyzes the formation of bonds between the amino acids forming a polypeptide
5. translation occurs until termination sequence then everything separtes and polypeptide moves to cytoplasm
tRNA
a cloverleaf strand of about 80 nucleotides that has a site for the attachment of an amino acid
anticodon
found on the tRNA and is the base pairing for mRNA to form amino acid
2 types of human cells
1. gametes
2. somatic cells
gamete
sperm and egg cell
somatic cells
-all human cells except gametes.
-dipolid cell
how many chromosomes in the nucleaus of a somatic cell?
46 (23 pairs)
diploid cells
chromosomes occur in pairs
how are new somatic cells formed?
mitosis and cytokineses (cytoplasm and nucleus replicated)
haploid cells
1 member of each chromosome pair for a total of 23 chromosomes
Meiosis
the process by which haploid cells are formed from diploid cells.
autosomes
chromosome that is not a sex chromosome. there are 22 of 23 chromosome are autosomes.
male sex chromosome
non homologous x and y
female sex chromosome
homologous x and x
karyotype
display of chromosomes. arranged from large to small.
how do you classify chromosomes?
position of the centromere
What is the leading known cause of mental retardation and miscarriage?
chromosome abnormality
euploid cells
cells that have a multiple of the normal number of chromosomes
polyploid cell
a cell with more than the dipolid number of chromosomes (>46)
triploidy
a zygote having having 3 copies of each chromosome. not compatible with life. (69 chromosomes)
tetraploidy
4 copies of each chromosome. (92 chromosomes)
aneuploid cell
a cell that doesn't contain a multiple of 23 chromosomes.
trisomy
an aneuploid cell that has 3 copies of 1 chromosome
monosomy
a lethal abnormality. an aneuploid cell with only 1 copy of a given chromosome
____ of chromosome material is more serious than ____ of material.
loss, duplication
True or False

Aneuploidy of sex chromosome is less serius than that of autosomes.
True
zygote
cell formed by the union of two gametes
nondisjunction
an error in which homologous chromosomes or sister chromosomes fail to separate normally during meiosis or mitosis.
Which trisomies are seen in birth?
13, 18 and 21
partial trisomy
only an extra portion of a chromosome is present in each cell
chromosomal mosaic
trisomy in only some cells of the bosy. body has two different cell lines, each with a different karyotype.
Down syndrome
aneuploidy. trisomy 21st chromosome. usually from nondisjunction in formation of maternal egg.
down syndrome characteristics
-mental retardation c IQ 25-70
-facial appearance- low nasal bridge, epicanthal folds, protruding tongue and low set ears
-poor muscle tone and short stature
-congenital heart defects
-prone to respiratory infections
-increased risk of leukemia
-ALZ by 40yo
risk of downs syndrome _____ with maternal age.
increases
trisomy x
sex chromosome aneuploidy affecting 1:1000 newborn females
trisomy x characteristics
-no overt physical abnormality
-sterile
-menstrual irregularity
-mental retardation
turner syndrome
female sex chromosome aneuploidy where there is only a single x chromosome. AKA 45x
turner syndrome characteristics
-sterile
-gonadal streaks instead of ovaries
-gonadal streaks susceptible to cancer in mosaics c some y chromosome cells
-short stature
-webbing in neck of 1/2 cases
-wide spaced nipples
-coarctation (narrowing) of the aorta
-edema of feet in newborns
-sparse body hair
-reduced carrying angle of elbow
turner syndrome treatment
-estrogen to promote secondary sex characteristics
-human growth hormone to increase stature
Klinefelter syndrome
sex chromosome aneuploidy. 47, xxy
-male appearance but sterile
-gynecomastia
-small testes
-saparse body hair
-some mental retardation
-high voice
-tall stature
47, xyy karyotype
sex chromosome aneuploidy.
-taller than average
-10-15 point reduction in IQ
-prevalent in prison population.