ts use mitochondrial disorders for? - answerTrack lineage as
they're only inherited maternally
MIDD - answermaternally inherited diabetes and deafness includes 1% of diabetic patients and
most common in Japanese population
What mutations cause MIDD? - answer- MT-TL1, MT-TK or MT-TE and reduces ...
mtDNA - answer✔- circular
- maternally inherited
- able to produce own proteins
nuclear DNA - answer✔DNA from both parents
genome - answer✔all genetic material within an organism
number of homologous chromosomes - answer✔23 pairs
how are autosomal chromosomes numbered - answer✔from largest size to smallest size (number
of bps)
size and number of genes on mtDNA - answer✔16kb and encodes 37 genes
what component of genome supports the endosymbiotic theory - answer✔mtDNA because
structure is similar to prokaryotic structure
What do evolutionary biologists use mitochondrial disorders for? - answer✔Track lineage as
they're only inherited maternally
MIDD - answer✔maternally inherited diabetes and deafness includes 1% of diabetic patients and
most common in Japanese population
What mutations cause MIDD? - answer✔- MT-TL1, MT-TK or MT-TE and reduces tRNA
activities which reduces protein synthesis
- decrease in ATP production
- in pancreatic β cells ATP is required to control secretion of insulin and therefore can result in
insulin deficiency
polymorphism - answer✔more than one allele occupies that gene locus in a population, and each
allele must occur in at least 1% of population
How many base pairs in humans? - answer✔6 billion
What percent of genome encodes for protein? - answer✔less than 1.5%
20000-25000 protein encoding genes
How much of genome is unique or single-copy DNA and how much is repetitive? - answer✔~
50% unique
~ 50% repetitive
What is classification of repetitive sequences based on? - answer✔locations of the repeats with
respect to single-copy sequences
2 major classes of repetitive DNA - answer✔1) clustered tandem repeat families (satellite DNAs)
2) dispersed repetitive DNA families
Clustered tandem repeat families - answer✔- mini and micro satellites
consist of short repeats organized in a head-tail fashion (occur adjacent to each other, so in
tandem). They serve as molecular markers for clinical cytogenetic analysis as they vary in length
between individuals
Where are satellite DNAs found? - answer✔telomeric and centromeric regions
What percentage of genome do satellite DNAs constitute? - answer✔10-15%
3 dispersed repetitive DNA families and what are the differences based on? - answer✔1) Alu
family
2) LINE; Long Interspersed nUclear Element or L1 family
3) Segmental duplication family
- Differences based on length of repeats
What percent of the genome does the Alu family take, and what is the length of repeat? -
answer✔>10% of genome
~300 bp in length
What percent of the genome does the LINE family take, and what is the length of repeat? -
answer✔Long Interspersed Nuclear Element
~20% of genome
as long as 6kb in length
What percent of the genome does the segmented duplication family take, and what is the length
of repeat? - answer✔>5% of genome
can span hundreds of kb
Why are there so many repetitive sequences? - answer✔Potentially, having redundancy can help
if a small portion is mutated, you still have a large portion to carry out function
How much compaction is there when DNA is in chromosome form? - answer✔500-1000x
Two processes in order to achieve cell replication? - answer✔1) Mitosis which is nuclear
division
2) Cytokinesis which is cytoplasmic division
What phase of cell cycle does DNA replication occur? - answer✔interphase
Hierarchy of DNA packing - answer✔metaphase chromsome -> condensed scaffold -> DNA
loops -> 30nm fiber -> 10nm fiber (beads-on-a-string) -> naked DNA
How does migration through gel vary for somatic and sperm DNA? - answer✔Somatic -
separated by 147bp because DNA wraps around histone 1.5x and it's protected from restriction
enzyme
Sperm - not packed by histones, by protamines (arginine rich protein) DNA is not wrapped,
instead randomly bound to protamines instead
chromosome decondensation - answer✔occurs after cytokinesis when cells are in G1
Describe cell cycle - answer✔chromosome decondensation in G1, then S phase, then cells in
G2/interphase, nuclear envelope breaks down during transition to prophase, cytoplasm and
nucleoplasm mix, this is onset of mitosis and chromosome condensation occurs. Now we're in
prophase with butterfly structure, then prometaphase, then metaphase, mictotubules form, in
anaphase chromosome migrates to opposite poles, key step for equal segregation of genetic
content in daughter cells, then telophase and cytokinesis.
chromosome condensation - answer✔occurs during prophase
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