exam 5 Flashcards

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1
Q

how can you tell if a pedigree is sex linked?

A

if males and females aren’t affected equally
x linked dom - more females
x linked rec - more males
y linked - every male, every generation

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2
Q

What is Sutton’s Chromosomal Theory of Inheritance?

A

mendelian genes have specific loci on chromosomes
chromosomes undergo segregation and independent assortment

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3
Q

What is genetic linkage?

A

genes located near each other on the same chromosome that tend to be inherited together - less than 50% recombination frequency

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4
Q

What is homologous recombination (crossing over)?

A

In meiosis I homologous chromosomes swap chunks resulting in new combinations in offspring - the closer genes are, the less likely they are to cross over, so they’re more likely to be inherited together

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5
Q

What is nondisjunction and how can it lead to disorders in chromosome number?

A

Failure of chromosomes to separate from each other - leads to aneuploidy (incorrect number of chromosomes)

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6
Q

What are the disorders that aneuploidy causes?

A

monosomy (2n-1)
trisomy (2n+1)

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7
Q

What are some of the errors in chromosome structure?

A

deletion - removing a chromosome segment
duplication - repeats a segment
inversions - reverses orientation of a segment within a chromosome
translocation - moves a segment from one chromosome to another

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8
Q

What are Chargaff’s rules?

A

base pairing (A+C=G+T)

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9
Q

What is the main structure of DNA?

A

antiparallel, phosphate and deoxyribose sugar backbone, double stranded

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10
Q

What is polymerase chain reaction (PCR)?

A

method to replicate a specific target sequence in DNA, uses heat, includes DNA pol, primers and nucleotides

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11
Q

What are the main differences between eukaryotic and prokaryotic DNA?

A

eukaryotic is linear
Prokaryotic is circular

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12
Q

How does the structure of DNA reveal its replication process?

A

It is semiconservative - two strands come apart and act as a template for the synthesis of a new complementary strand - leading and lagging strand

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13
Q

What is the process of DNA replication in prokaryotes?

A

Replication fork, origin of replication, leading and lagging strands, Okazaki fragments

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14
Q

What are the 7 different proteins that help with DNA replication?

A

Topoisomerase - stress reducer
helicase - unzipping
Single Stranded Binding Protein (SSBP) - stress reducer
Primase - RNA primer
DNA Pol III - synthesize new DNA
DNA Pol I - remove RNA primer and adds DNA
ligase - glues the fragments together

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15
Q

What are the roles of telomerase in DNA replication?

A

it lengthens the telomeres (buffer zone)

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16
Q

What are the different types of mutations in DNA?

A

point - silent, missense (wrong amino acid), nonsense (premature stop)
frameshift - insertion + deletion, alters the reading frame

17
Q

What are some DNA repair mechanisms?

A

Proofreading - DNA polymerase finds and corrects errors during replication
mismatch repair - one base pair is wrong - fixed by protein
nucleotide excision repair - repairs thymine dimer (nuclease removes, DNA pol synthesizes new DNA, DNA ligase seals it in)

18
Q

What is the central dogma of protein synthesis?

A

DNA to transcription to mRNA to translation to protein

19
Q

How to nucleotides prescribe the amino acid and proteins?

A

Codons on the mRNA code for specific acids that create polypeptide chains that make proteins

20
Q

What are the steps of transcription?

A

Initiation - DNA unwinds, RNA pol attaches to promoter
Elongation - RNA pol aided by transcription factors; RNA made; DNA rewound
Termination - RNA reaches poly a signal or terminator sequence and falls off

21
Q

What is the role of RNA polymerases?

A

makes a complimentary mRNA copy from DNA template strands and add to 3’ end

22
Q

What is the significance of transcription factors?

A

They help create mRNA

23
Q

What are the steps in RNA processing?

A

5’ cap and 3’ poly A tail

24
Q

What is RNA splicing?

A

Cutting out introns (noncoding regions) and keeps the introns (coding regions)

25
Q

What are the different steps in protein synthesis?

A

Initiation - small subunit and met tRNA bind to mRNA, large subunit attaches, process takes energy
Elongation - A site, peptide bond, move to P site, empty tRNA exists at E site
Termination - mRNA translate a stop codon, release factor are proteins that bind the stop codon (not tRNA and not an amino acid)

26
Q

What are the roles of ribosomes in protein synthesis?

A

A site, P site, E site,