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MOLECULAR BIO > CH.4 PPT > Flashcards

CH.4 PPT Flashcards

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Biology 101 flashcards
1
Q

what is a genome

A

complete set of sequences in the genetic material of an organism that includes sequence of each chromosome + DNA in organelles (should be same in each cell)

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2
Q

what is a transcriptome

A

complete set of RNAs present in a cell, tissue, or organism (each cell has different amounts and different function)

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3
Q

what is a proteome

A

complete set of proteins (made from RNA and different in every cell) that is expressed by the entire genome

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4
Q

what does the term proteome sometimes used to describe

A

complement of proteins expressed by a cell at any one time

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5
Q

what is methylome

A

DNA that is methylated (different in every cell)

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6
Q

iCLICKER: in comparing a liver cell and a brain cell from the same human at the same moment, which of the following is likely to be the same

a. genome
b. transcriptome
c. proteome
d. interactome
e. all of these are correct

A

a. genome

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7
Q

what did chargaff discover

A

that A = T and C = G (Chargaff’s rule)

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8
Q

what did Watson and crick discover

A

proposed the double helix structure of DNA

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9
Q

what are the Mendel’s Laws of Inheritance

A
  1. law of segregation
  2. law of independent assortment
  3. law of dominance
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10
Q

what is the law of segregation

A

each inherited trait is defined by a gene pair that are randomly separated to the sex cells (offspring inherit one allele from each parent)

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11
Q

what is the law of independent assortment

A

genes for different traits are sorted separately (inheritance of one trait is NOT dependent on the inheritance of another trait)

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12
Q

what is the law of dominance

A

an organism with alternate forms of a gene will express the form that is dominant

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13
Q

Mendel’s laws describe

A

monogenetic traits/disease (affected by single gene), they stop short of explaining some patterns of genetic inheritance

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14
Q

iCLICKER: Gregor Mendel is often referred to as the “father of genetics” and established the rules of heredity. Which of the following is NOT one of the laws of Mendelian inheritance

a. the law of segregation
b. the law of complementary base pairing
c. the law of independent assortment
d. the law of dominance
e. all of these are laws of inheritance described by Mendal

A

b. the law of complementary base pairing

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15
Q

what is a mutation and some characteristics

A

change in the DNA sequence away from normal

 - occurs in <1% of the population (arbitrary cutoff)
 - may be harmful (but NOT all), "cause disease", "reduce fitness" - thus rare
 - germline (from parents) or somatic (individual cells)
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16
Q

what is a polymorphism and some characteristics

A

a DNA sequence variation that is common in the population
- occurs in >1% of the population
- do NOT usually cause overt disease, but are known to contribute to disease risk

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17
Q

what levels can polymorphisms be detected

A
  1. phenotypic = when sequence affects gene function
  2. restriction fragment level = when it affects a restriction enzyme target site
  3. sequence level = by direct analysis of DNA
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18
Q

the alleles of a gene show extensive ________ at the _______ level, but many sequence changes do NOT affect _____

A

polymorphisms at sequence level but DO NOT affect function

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19
Q

what is a single nucleotide polymorphism (SNP)

A

a polymorphism caused by a change in a single nucleotide

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20
Q

what is an indel

A

insertion or deletion of bases in the genome

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21
Q

what is a short tandem repeat (STR) and variable number tandem repeat (VNTR)

A

regions of the genome that have repeating stretches of DNA
- STR = few
- VNTR = hundreds of nucleotides

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22
Q

what is a structural variation and what are the 3 types

A

affecting DNA that is ~1kb or larger
- copy number variation (CNV)
- inversions
- translocation

23
Q

what is a copy number variation (CNV)

A

variation in the number of repeats at a specific locus (genes or nucleotides) typically resulting from duplication or deletion

24
Q

what are inversions

A

region of the genome is inverted (“flipped”)

25
Q

what is a translocation

A

region of the genome moved to another region

26
Q

what do single nucleotide polymorphisms (SNP) represent

A

differences in bases (have a major and minor allele)

27
Q

what do short tandem repeats (STRs) represent

A

differences in the number of repetitive sequences

28
Q

what are the 3 examples of STRs

A
  1. dinucleotide = 2 nucleotides repeated: NNNN (AG)(AG)(AG)(AG)(AG)(AG) NNNN
  2. trinucleotide = 3 nucleotides repeated: NNNN (CAG)(CAG)(CAG)(CAG) NNNN
  3. tetra nucleotide = 4 nucleotides repeated: NNNN (CGTG)(CGTG)(CGTG) NNNN
29
Q

what is the genotype based on

A

number of repeats for each allele

30
Q

what is a genome wide association studies (GWASs)

A

researchers can identify SNPs that are more frequently found in patients with a particular disorder

31
Q

what do genome wide association studies (GWASs) identify

A

SNPs associated with disease

32
Q

what does GWAS test for

A

SNPs that are in linkage disequilibrium (LD = inherited with other SNPs)

33
Q

many SNPs are not…

A

within genes

34
Q

what happens if a SNP within a gene is found to be associated with disease

A

that SNP and/or the gene need to be assessed “functionally” to see if they might be responsible for causing the disease

35
Q

hundreds or thousands of SNPs are found to be….

A

associated with a single (complex) disease, but still only explain a small amount of the genetic basis for that disease

36
Q

what is DNA profiling and what can it be used in

A

a forensic technique for analyzing the differences between individuals based on their DNA profiles

  1. criminal investigations
  2. paternity testing
  3. genealogical studies
37
Q

in STR profiles what type of genotype is a single peak and double peak

A

single = homozygous
double = heterozygous

38
Q

iCLICKER: in the case study we just observed, what is the genotype of STR marker D18S51 (has 2 peaks and genotype 14 15)

a. heterozygous
b. homozygous
c. 14,14
d. 14,15
e. 15,15

A

d. 14,15

39
Q

in the case study we just observed, what is the genotype of STR marker D13S317 (has one peak with genotype #10)

a. 10,10
b. 7,15,10
c. 10,9
d. 10,9,11

A

a. 10,10

40
Q

polypeptides are generally encoded by sequence in

A

non repetitive DNA

41
Q

larger genomes within a taxonomic group do not contain more genes but have…

A

large amounts of repetitive DNA

42
Q

what is moderately repetitive DNA

A

short sequences repeated 10-1000 times

43
Q

what are highly repetitive DNA

A

short sequences repeated thousands of times

44
Q

what are transposons

A

short sequences of DNA that are able to move to new locations (“jumping gene”)

45
Q

functional genes have a…

A

specific structure (features)

46
Q

what is synteny

A

relationship between chromosomal regions of different species where homologous genes occur in the same order

47
Q

mitochondria and chloroplasts have genomes that show ___-______ _____ and typically they are ________ inherited

A

show non-Mendelian inheritance and are typically maternally inherited

48
Q

mitochondria originated by a

A

endosymbiotic event when a bacterium was captured by a eukaryotic cell

49
Q

mitochondria and chloroplasts evolved by…

A

endosymbiosis

50
Q

both mitochondria and chloroplasts are descended from

A

bacterial ancestors (>1.45 billion years ago)

51
Q

most of the genes of the mitochondrial and chloroplast genomes have been

A

transferred to the nucleus during the organelle’s evolution

52
Q

iCLICKER: Alison is heterozygous for a micro satellite locus with alleles of 128 and 135 repeats. Her daughter Jade has alleles of 116 and 128 repeats. Frank has alleles of 116 and 128 repeats. Is it possible that Frank is Jade’s father

A. Yes
B. No

A

A. YES (1 copy of the allele from each parent 128 = mother and 116 = father)

53
Q

the well-supported hypothesis for the origin of both mitochondrial and chloroplast organelles is known as

a. endosymbiosis
b. organelle-nuclear evolution
c. prokaryotic symbiosis
d. prokaryotic-eukaryotic co-evolution
e. natural selection

A

a. endosymbiosis

MOLECULAR BIO (6 decks)

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