DNA Replication- lecture #18 Flashcards
what is non-disjunction?
homologous pairs fail to separate it normally leaves the other chromosome pairs distributed normally
when does non-disjunction occur?
when members of homologous pairs do not separate during meiosis I
when sister chromatids do not separate during meiosis II
when sister chromatids do not separate during meiosis II what is produced?
one gamete with 2 copies of the same chromosome and another gamete without a copy of the chromosome
what is aneuploidy?
a gamete with an abnormal chromosome number is used in fertilization
when a gamete is missing a chromosome what is that called? how many chromosomes will there be?
monosomic (zygote is 2n-1)
45 chromosomes
when a gamete has an extra chromosome what is that called? how many chromosomes will there be?
trisomic (zygote is 2n+1)
47 chromosomes
what happens when aneuploidy occurs in mitosis, if it occurs early in embryonic development?
then the abnormal chromosome number will be transmitted to a number of cells having a large scale effect
what is polyploidy?
more than 2 complete chromosome sets are present
what is polyploidy common in?
plants
when can triploidy (3n) occur?
when one of the gametes involved in fertilization has undergone a non-disjunction (fail to separate) of all chromosome pairs
normal in plants
when can tetraploidy (4n) occur?
when the diploid zygote completes S phase in preparation for mitotic division and doesn’t divide
how many chromosomes do you end up with in tetraploidy?
92 (46 x 2)
what are the 4 types of altered chromosome structure?
deletion, duplication, inversion, translocation
what occurs in deletion?
chromosomal fragments are lost (genes are missing)
ABCDE
ABCD
what occurs in duplication?
duplicated fragment reattaches to the sister chromatid
ABCDE
ABCBCDE
what happens if duplication occurs on a non-sister chromatid?
alleles may create non-duplicates
what occurs in inversion?
the broken fragment reattaches to the same chromosome backwards
results in serious consequences
ABCDE
ADCBE
what occurs in translocation?
the broken fragment reattaches to a non-homologous chromosome
ABCDE MNOPQ
MNOCDE ABPQ
how can deletion/duplication occur?
due to unequal size exchange during crossing over
what is a missense mutation?
DNA change that results in different amino acids being encoded at a particular position in the resulting protein
what is a silent mutation?
type of mutation in the coding region of a gene that doesn’t actually change the amino acid sequence of the protein that is made.
what can structural alteration of chromosomes cause?
severe disorders
when does down syndrome occur in respect to chromosomes?
affects chromosome number 21 (47 chromosomes)
called trisomy 21
how many kids does down syndrome affect?
1 in 700
down syndrome is considered a syndrome because there is a set of symptoms that arise, what are some symptoms?
Round face
Skin fold at inner corner of the eye
Flattened nose bridge
Small and irregular teeth
Heart defects
Short stature
Reduced life span
50% of a woman with down syndrome’s eggs will have 3 copies of chromosome 21, what is the chance her offspring will be affected?
50%
what happens when there’s aneuploidy on sex chromosomes?
less of an issue then when on autosomal chromosomes
what does XYY on the sex chromosome signify?
normal sex development, taller
what is trisomy X? what is the sex chromosome sequence and what are some side effects?
XXX
learning disabilities, taller, otherwise normal
what is turners syndrome?
X
sterile, immature sex organs, normal intelligence
what is klinefelter’s syndrome? what is the sex chromosome? what are some side effects?
XXY
small testicles, sterile, breast enlargement, decreased intelligence
what happens when you start taking artificial testosterone?
causes real testosterone to stop working as efficiently
what was crucial to the determination of DNA as the genetic material?
infection of bacterial cells with a virus
what was originally thought to be genetic material?
DNA or protein
what happened when the pathogenic strain (disease causing bacteria) was treated with heat? griffith (1928)
heat killed
what happened when the remaining cellular material from the pathogenic strain was mixed with the non- pathogenic bacteria?
transformed non-pathogenic into pathogenic (disease causing bacteria)
what does the term transformation mean to Griffith?
naked DNA that you choose to put into your genetic binder
Avery isolated the heat killed bacteria and opened the cells, extracting the DNA, RNA and protein, what was the only thing that was able to transform heat killed bacterial cells into virulent cells?
DNA
what are bacteriophages (phages)?
viruses that infect bacterial cells
what is smaller, viruses or bacteria?
virus
what do bacteriophages (viruses) consist of?
DNA or RNA as genetic material (never both)
nucleic acid enclosed within a protein coat
obligate intracellular parasites
what did scientists Hershey and Chase want to know?
whether it was phage DNA or phage protein material with the ability for genetic material of the T2 bacteriophage
What did Hershey and Chase do to test if the DNA or protein was the genetic material of the T2 bacteriophage?
added a radioactive tag to the protein in one T2 batch (added the label to sulfur)
added a radioactive tag to the DNA in another T2 batch (added the label to phosphate)
what was left to be infected by the labeled DNA and labeled protein?
E. coli
How did Hershey and Chase prove that DNA was the genetic material of the T2 bacteriophage?
only the phage DNA was entering E. coli, protein was not
what are Chargaff’s rules?
The number of:
Adenine residues = the number of thymine residues
(adenine base pairs with thymine via 2 hydrogen bonds)
Guanine residues = the number of cytosine residues
(cytosine base pairs with guanine via 3 hydrogen bonds)
Composition of base pairs varies between species
what happens when a purine is paired with a pyrimidine?
3 rings across
what happens when a pyrimidine is paired with a purine?
3 rings across
why is the nucleotide sequence of the ladder random?
determines the genetic makeup of the individual
what is an example of composition base pairs varied between species?
bacteria vs eukaryotes
what is the structure of DNA?
2 strands come together (anti-parallel) to form a double helix
sugar phosphate backbone