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Genetics Final Flashcards

1
Q

1860 Mendel

A

segregation/ independent assortment

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2
Q

1863 Miescher

A

isolation of nuclein

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3
Q

1885 Flemming

A

mitosis

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4
Q

1900 deVries

A

rediscovered Mendelian genetics

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5
Q

1902 Garrod

A

in born errors in metabolism “Allcaptonuria”

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6
Q

1903 Sutton & Bolveri

A

Meiosis; chromosome theory of inheritance

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7
Q

1905 Bateson & Punnett

A

genetic linkage

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8
Q

1910 Thomas Hunt Morgan

A

X-linked trait

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9
Q

1914 Sturterant

A

genetic mapping

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10
Q

1928 Griffith

A

transforming principle

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11
Q

1941 Beadle & Tatum

A

1 gene: 1 enzyme

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12
Q

1944 Avery, Macleod, & McClary

A

DNA transforming principle

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13
Q

1946 Lederberg & Tatum

A

bacterial conjugation

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14
Q

1950 Barbara McClintock

A

transportable elements

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15
Q

1952 Hershey & Chase

A

blender exp

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16
Q

1953 Watson & Crick

A

structure of DNA

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17
Q

1958 Meselson & Stahl

A

semi-conservative DNA replication

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18
Q

1966 Nirenberg & Khorana

A

genetic code; codons

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19
Q

1972 Boyer

A

recombinant DNA

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20
Q

1975 Sanger

A

DNA sequencing

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21
Q

1977 Phillip Sharp

A

intron spliced out

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22
Q

1986 Kary Mullis

A

PCR

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23
Q

2000 Venford Collins

A

Human Genome

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24
Q

2006 Mellow & Fire

A

discovery of RNA interference

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25
Q

Southern blot

A

Detect a DNA sequence in a DNA sample isolated from a cell

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26
Q

Steps for Southern blot

A
  1. Isolate gene
  2. Cut w/ Restriction Enzyme (like EcoR1)
  3. Agarose gel Electrophoresis
  4. Transfer to Paper (gel> buffer> paper> paper towels> heavy object)
  5. Add specific radioactive probe (oligonucleotide or other)
  6. Radioactive probe & selected gen hybridize show up on x-ray film
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27
Q

Northern blot

A

Tests for RNA; extract RNA from cell (mRNA) then follow the same steps as Southern blot

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28
Q

Western blot

A

run protein gel PAGE (polyacrylamide; smaller pores)

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29
Q

Steps of Western blot

A
  1. Run proteins
  2. transfer to paper (electrophoresis)
  3. SDS page: sodium dodecylsulfate (-), ionic detergent binds to proteins proportional to weight (separation caused by mass)
  4. Probe with specific antibody, bind specifically w/ foreign substance such as a specific inserted protein. The protein is thus an antigen.
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30
Q

1985-90 Human Genome Project (HGP)

A

US gov. and private funding awarded contracts to labs for sequencing a particular chromosome

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31
Q

Strategies of HGP

A
  1. To make a detailed map of markers
  2. Clone all humane DNA into vectors (BAC - bacterial artificial chromosome, 150,000 bp insert)
  3. Take all BACs and determine what markers they contain and position them on a chromosome
  4. Sequencing: take BAC and subclone its insert into plasmids to be sequenced using Sanger sequencing
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32
Q

Strategies for making a detailed map of DNA markers of the human genome

A
  1. VNTRs (variable nucleotide tandem repeat) DIS80: unique marker present at only one particular position on the chromosome
  2. ESTs (expressed sequence tags): take exon and find out where it maps to; give it a number; find out where it marks
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33
Q

Strategy for cloning all human DNA into vectors

A

use BAC (bacterial artificial chromosome) about 150,000 bp inserts, 500,000 BACs needed

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34
Q

contig

A

linked BACs into one sequence

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35
Q

Scaffolds

A

linked contigs after gaps are filled in

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36
Q

Paired-end read

A

ends of the same cloned insert (unknown in btw)

–compared w/ other inserts (long-insert vector) to determine what occurs in between

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37
Q

1998 Craig Venter - Celera Genomics

A

Raced the HGP to sequence the human genome

  1. Cloned all DNA
  2. Random sequencing
  3. Computer- intensive, assembly of fragments
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38
Q

Shotgun cloning & sequencing

A

cut your genome, map it, let a computer put it back together

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39
Q

How many bp in the human genome?

A

3x10^9

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40
Q

Unique seq

A

example: 50nts that only occur once
- Make up 50% of the Human Genome
- some genes are protein coding (1% of HG)
- Spacer seq (25% of HG) & Introns (24% of HG)

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41
Q

Spacer Sequences

A

The sequences in between genes

  • -unique sequences
  • -non-coding
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42
Q

Repetitive Sequences

A

sequences that appear multiple times (50% of human genome)

  • gene gamilies
  • telomeres
  • centromers
  • VNTRs
  • RFLPs
  • Dinucleotide Repeats
  • Transposable Elements
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43
Q

Gene Families

A

tandem duplication of a region

  • -A and A* are considered a gene form, derived from repeat of the same gene that has been mutated
  • -Ex. globins, actins, myosins, tubulions… all related protein w/ similar function
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44
Q

Telomeres

A

Highly repetative sequences that protect the end of chromosomes

45
Q

Centromes

A

Repeats in DNA that bind kinetocore for replication, satellite DNA

46
Q

VNTRs

A

polymorphic sites (like DIS80) made up of different repeats

47
Q

RFLP

A

restriction fragments that link polymorphisms (VNTRs)

48
Q

Dinucleotide Repeats

A

Repeats of two nucleotides that may help with homolog pairing
ex. AGAGAGAG

49
Q

Transposable Elements

A

The majority of repetitive DNA (40% of HG)

  1. Transposons
  2. Retrotransposons
50
Q

Transposons

A

DNA element able to move itself at a DNA level; can cut and paste in sequence

  • -Observed by Barbara McClintock
  • -Could cause mutations
51
Q

Retrotransposons

A

The copy and past mech utilized by RNA intermediate

  • -Sequence encodes RT, which is transcribed and translate. The enzyme then works to paste it back into the DNA genome for a second retrotransposon
  • -LINE (20% of HG)
  • -Retroviral-like-sequence (8% of HG)
  • -SINE (13% of HG)
52
Q

LINE

A

A retrotransposon of 30,000 to 500,000 repeats per genome, encodes reverse transcriptase for autonomous transportation

53
Q

Retroviral-like-sequence

A

A retrotransposon, LTRs & reverse transcriptase

54
Q

SINE

A

A retrotransposon, does not encode reverse transcriptase, but large number of repeats

55
Q

Two hypothesis for the large amount of non-coding, repeating DNA in more complex organisms

A
  1. Genomes became messy over time as organisms became complex
  2. All genomes began messy, but bacteria have evolved to have a simpler genome
56
Q

Aneuploidy

A
  • -Error in meiosis; nondisjunction, the homologs do not separate
  • -“not euploid,” gametes with chromosome numbers intermediate between the haploid and diploid number
57
Q

Polyploidy

A
  • organisms that have more than two chromosome sets
  • -Trisomic or Trisomy: a normal gamete fertilizes an nondisjunct gamete, making a 3n offspring instead of 2n
  • -3N triploid & 4N tetraploid > never lead to live birth in humans
58
Q

Trisomy 21

A

Down-syndrome, a type of autopolyploidy (an aneuploidy)

–(47xy + 21) = 1 extra chromosome

59
Q

Monosomic aneuploidy

A

Lethal loss of a chromosome

– (45xx -15)

60
Q

Gene dosage effect

A

relation between: number of gene copies and the amount of the gene’s product
–in humans and most higher animals aneuploidy is not tolerated due to this

61
Q

Sex chromosome aneuploidy

A
    • XXY (male) Klinefelter Syndrome - over-expression of x

- - 45x0 (female) Turner Syndrome - under-expression of x

62
Q

Pleiotropic

A

Mutation has many phenotypic effects

63
Q

Autopolyploid

A

polyploid formed from the doubling of a single genome

–Chromosomes originate from one species

64
Q

Trisomy 13

A

Patan; a type of autopolyploidy (an aneuploidy)

–Fatal

65
Q

Trisomy 18

A

Edwards; a type of autopolyploidy (an aneuploidy)

–Fatal

66
Q

Triploid Salamander

A

An all female population of 3N salamanders that reproduce by Parthenogenesis.
A. jeffersonianum (2N jj) + A. laterale (2N ll) = A. platineum (3N jjl) produced by hybridization, an allopolyploidy.

67
Q

Allopolyploid

A

a polyploid formed from the union of two separated chromosome sets and their subsequent doubling
–Contain sets from two or more different species

68
Q

Plant allopolyploidy

A

ex. Wheat– created by two hybridizations
AA x BB > AB hybrid (infertile, fails first division) > AABB (4N meiosis, tetraploid) x DD > AABBDD hexaploid 6N=42

–Polyploids are often larger than their diploid relatives

69
Q

Plant autopolyploidy

A

Autopolyploidy that occurs within a species 2N > 4N

ex. 2N watermelon x 4N watermelon > 3N
- -Contain multiple chromosome sets originating from within one species

70
Q

Four Changes in Chromosome Structure

A
  1. Deletion - lose part of a chromosome
  2. Inversion - movement of a nucleotide (heterozygous; parcentral)
  3. Translocations (reciprocal) - like a cross over between non-homologs
  4. Duplications - repeat of a nucleotide
71
Q

Parcentric Inversion

A

An inversion not including the centromere

72
Q

Cri du chat

A

macrodeletion, can be seen in karyotype

73
Q

Prader-Willi Syndrome & Angelmann Syndrome

A

microdeletion; deletion of 15q11-13

74
Q

FISH analysis

A

fluorescence in situ hybridization; used to detect presence or absence of specific DNA sequence, detects deletions

75
Q

Reciprocal Translocation

A

like a cross-over of two non-homologous chromosomes, uses meiotic machinery
–two chromosomes trade acentric fragments created by two simultaneous chromosome breaks

76
Q

Somatic translocation

A

translocation that is

  • associated w/ cancers
  • ex. Pairing of chromosomes #9 & #22 (phenotype CML) Associated w/ the Philadelphia Chromosome. Genes ABL & BCR end up on chromosome #22, they are proto-oncogenes (growth regulatory). ABL is up-regulated to increase expression.
77
Q

Germline effects of translocation

A

translocation that make infertile gametes

78
Q

Duplication

A

Unequal crossing-over in meiosis; an extra copy of some chromosome region due to the processes of mutation

Meiosis I
ABCDEFG > ABCEFG —gamete 1
abcdefg > abcddefg —gamete 2
gamete 2 > abcdddde > repeats cause bubble

79
Q

Monoploid

A

a normally diploid species that has only one chromosome set (n)
-ex. Normal > AA BB CC
Monoploid > A B C

80
Q

Parthenogenesis

A

the development of a specialized type of unfertilized egg into an embryo without the need for fertilization

81
Q

amphidiploid

A

A type of allopolyploid which causes a doubled diploid

82
Q

Deletion

A

the loss of a part of one chromosome arm

–two chromosome breaks to cut out the segment

83
Q

Intragenic deletion

A

a small deletion within a gene, inactivates the gene and has the same effect as other null mutations

84
Q

Multigenic deletion

A

several to many genes are missing

85
Q

Deletion loop

A

a loop formed by failure of the corresponding segment on the normal homolog to pair

86
Q

Pseudodominance

A

when recessive alleles are expressed like dominant alleles due to deletion of the homolog

87
Q

Tandem duplication

A

duplicate regions adjacent to each other

88
Q

Insertional duplication

A

duplications not adjacent

89
Q

segmented duplication

A

bigger duplications (large regions)

90
Q

Inversion

A

a segment of a chromosome is cut out, flipped, and reinserted

91
Q

Pericentric Inversion

A

Inversion is spanning the centromere

92
Q

Inversion loop

A

one chromosome twists once at the ends of the inversion to pair with its untwisted homolog

93
Q

Dicentric bridge

A

Crossing over within the inversion loop at meiosis connects homologous centromeres

94
Q

Pseudolinkage

A

apparent linkage of genes normally known to be on separate nonhomologous chromosomes

95
Q

Bioinformatics

A

cloning and genome sequencing leads to gathering lots of sequence information that requires organization into a computer > GenBank
–sets of databases and programs of analysis

96
Q

Genomics

A

study of the DNA sequence level by:

  1. SNPs
  2. Data “mining”
  3. Comparative genomics
  4. Gene regulatory networks
97
Q

SNPs

A

single nucleotide polymorphisms; mutations that occurred a some point (in evolution) & spread through parts of the population

98
Q

Genome Wide Association Study (GWAS)

A

take a group of people (like a family) & compare their genome and phenotypes. Those showing the phenotype have the SNP.

99
Q

Gene regulatory networks

A

studies non-coding sequences

100
Q

Data “mining”

A

studies misc parts like miRNAs (1000s w/in a genome)

101
Q

Comparative Genomics

A

take DNA sequences from different species and compare them to see evolution/phylogeny

102
Q

Transcriptomics

A

study of genomes at the RNA level

103
Q

DNA microarrays (genechips)

A

allow us to measure the expression of a gene at RNA level (mRNA)

  • 10,000 to 20,000 etched spots, each spot has a specific oligonucleotide for each gene (exon), which is double stranded for hybridization
  • used to determine what genes change in the presence of cancer
104
Q

Proteomics

A

Patterns of proteins (amounts) being produced in different cell types
-protein to protein interactions, interactome

105
Q

Yeast Two-hybrid system

A

Tests whether x and y physically interact:

  • Tested in vivo
  • Gal 4 protein in yeast involved in lactose utilization, a transcription factor, has two domains.
  • -The protein can be separated into those two domains: Binding and Activation. A two gene fusion can be created of the x being tested and the activation domain. This is inserted into one genome. Another fusion is made between y and the binding domain. That fusion is inserting into another genome. Both are plated together. If x binds Y then the reporter gene (a marker like lacZ) is turned on and the cells turn blue.
106
Q

Yeast Binding Domain

A

binds to DNA elements, like pol. II

107
Q

Yeast Activation Domain

A

interacts with general transcription machinery to start transcription

108
Q

SCID

A

sever combined immunodeficiency disease

–treated by gene therapy

Biology (11 decks)

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