Genetics Flashcards

1
Q

The units of inheritance

A

Genes

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2
Q

Diseases caused by a mutation in a single gene

A

Mendelian

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3
Q

XY code a

A

Man

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4
Q

XX code a

A

Female

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5
Q

Cystic fibrosis is an example of a

A

Mendelian Disease

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6
Q

The central dogma of molecular biology

A

DNA>RNA>Protein

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7
Q

The study of sets of genes in one or more species

A

Genomics

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8
Q

On average 50% of children are affected with the disease and 50% are unaffected

A

Autosomal Dominant

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9
Q

On average 25% of children are normal, 50% are carriers and 25% are affected with the disease

A

Autosomal Recessive

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10
Q

On average 50% of male children from a carrier female will have the disease & 50% of female children will be carriers

A

X-linked

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11
Q

Huntington’s disease is an example of

A

Autosomal Dominant

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12
Q

What type of mendelian disorder is cystic fybrosis?

A

Autosomal recessive

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13
Q

Haemophilia is an example of

A

X-linked recessive

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14
Q

What diseases are treated by by suppression of
expression of the mutant gene?

A

Dominant diseases

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15
Q

What diseases are treated by introducing a normal copy of the gene?

A

Recessive diseases

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16
Q

Two genes that occupy the same position on
homologous chromosomes.

A

Allele

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17
Q

The entire set of genes in an organism.

A

Genome

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18
Q

A fixed location on a strand of DNA where a gene or one of its alleles is located.

A

Locus

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19
Q

Having identical genes (one from each parent) for a particular characteristic.

A

Homozygous

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20
Q

Having two different genes for a particular characteristic.

A

Heterozygous

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21
Q

The allele of a gene that masks or suppresses the expression of an alternate allele

A

Dominant

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22
Q

An allele that is masked by a dominant allele

A

Recessive

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23
Q

The physical appearance of an organism

A

Phenotype

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24
Q

A genetic cross involving a single pair of genes

A

Monohybrid Cross

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25
Q

Predicted that genes occur in pairs

A

Mendel

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26
Q

Mendel’s Principles

A
  1. Principle of Dominance
  2. Principle of Segregation
  3. Law of dominance
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27
Q

Mendel’s Law of Dominance

A

One factor in a pair of traits dominates the other in inheritance unless both factors in the pair are recessive.

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28
Q

An organism with two identical alleles for a character

A

Homozygote

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29
Q

An organism with two different alleles for a gene

A

Heterozygote

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30
Q

Matings that involve parents that differ in two genes

A

Dihybrid Cross

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31
Q

The tendency of genes from the same chromosome to remain together when they enter the gamete.

A

Linkage

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32
Q

The appearance of new combinations of alleles.

A

Recombination

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33
Q

____ dominance occurs when phenotypes of the heterozygote and dominant homozygote are identical.

A

Complete

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34
Q

____ dominance, the phenotype of F1 hybrids is somewhere between the phenotypes of the two parental varieties.

A

Incomplete

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35
Q

____ dominance, two dominant alleles affect the phenotype in separate, distinguishable ways.

A

Co

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36
Q

Pleiotropy

A

The concept that most genes have multiple phenotype effects.

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37
Q

Cell division involving somatic cells

A

Mitosis

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38
Q

Cell division involving gametes

A

Meiosis

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39
Q

One pair of homologous chromosomes

A

A diploid cell

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40
Q

Each cell receives only one of the homologues

(Half a chromosome)

A

Meiosis I

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41
Q

Each cell receives only one sister chromatid

A

Meiosis II

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42
Q

9:3:3:1 inheritance pattern

A

Dihybrid Cross

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43
Q

How many chromosomes are there?

A

23

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44
Q

Thomas Hunt Morgan worked with

A

Drosophila flies

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45
Q

Offspring with a phenotype matching one of the parental (P) phenotypes are called

A

Parental Type

46
Q

Offspring with nonparental phenotypes are called

A

Recombinants

47
Q

A protein structure that forms between homologous
chromosomes (two pairs of sister chromatids) during meiosis

A

The synaptonemal complex

48
Q

The farther apart two genes are, the ____ the probability that a crossover will occur between them

A

higher

49
Q

Griffith’s Experiment

A

Insert different forms of strep into mice

Demonstrated bacterial transformation

50
Q

The movement of genetic material between unicellular and/or multicellular organisms other than by the vertical transmission of DNA from reproduction.

A

Horizontal Gene Transfer

51
Q

The uptake of short fragments of naked DNA by naturally transformable bacteria.

A

Transformation

52
Q

The transfer of DNA from one bacterium into another via bacteriophages.

A

Transduction

53
Q

The transfer of DNA via sexual pilus and requires cell-to-cell contact.

A

Conjugation

54
Q

A polymer of nucleotides, each consisting of a nitrogenous base, a sugar, and a phosphate group

A

DNA

55
Q

The nitrogenous bases of DNA

A
  • Adenine,
  • Thymine,
  • Guanine,
  • Cytosine
56
Q
  1. The base composition of DNA varies between species
  2. In any species the number of A and T bases is equal and the number of G and C bases is equal
A

Chargaff’s Rules

57
Q

To pack chromatin, DNA are wrapped around

A

Histones

58
Q

Euchromatin

A

Loosely packed chromatin

59
Q

Heterochromatin

A

Densely packed chromatin

60
Q

Required properties of DNA

A
  1. It must contain the Information required to construct and maintain life forms
  2. Must be Inherited Intact through Generations
  3. It must be Replicated with High Precision
61
Q

A nucleotide is made up of

A

Phosphate + Sugar + Base

62
Q

Purines

A
  • Adenine
  • Guanine
63
Q

Pyrimidines

A
  • Thymine
  • Cytosine
  • Uracil (RNA)
64
Q
  • dAMP
  • dGMP
  • dCMP
  • dTMP
A

The 4 types of nucleotides

65
Q

The only linkage allowed between nucleotides

A

Phosphodiester bond

66
Q

The directionality of DNA is

A

5’ to 3’

67
Q

Replication of DNA is

A

semi-conservative

68
Q

DNA synthesis occurs via

A

primer extension

69
Q

DNA polymerase can only add nucleotides to the ____ end of a replicating strand.

A

3’

70
Q

The ____ strand copies continuously in the direction of unwinding

A

Leading

71
Q

The ____ strand copies in segments

A

Lagging

Through Okazaki Fragments

72
Q

Okazaki fragments are joined by

A

Ligase

73
Q

Uracil replaces ____ in RNA

A

Thymine

74
Q
  • This is the RNA transcribed from ‘protein-coding’ genes
  • encode the information for specific proteins
A

mRNA

75
Q
  • Is a structural & functional component of Ribosomes
  • is very stable
  • is a non-coding RNA
A

rRNA

76
Q
  • Very abundant and very stable
  • A non-coding RNA
  • ‘Clover-leaf’ secondary structure
A

tRNA

77
Q

The synthesis of RNA based on a DNA template

A

Transcription

78
Q

DNA sequences that guide RNAP to the beginning of a gene to start transcription

A

Promoters

79
Q

DNA sequences that specify the termination of RNA synthesis, and the release of RNAP from the DNA

A

Terminators

80
Q

Roles of RNAP

RNA Polymerase

A
  • Initiates transcription
  • Elongates the mRNA chain
  • Terminates transcription
81
Q

The process of making an mRNA copy of the DNA sequence via RNAP

A

Elongation

82
Q

RNAP I - makes

A

rRNA

83
Q

RNAP II - makes

A

mRNA

84
Q

RNAP III - makes

A

tRNA

85
Q

____ remove introns from pre-mRNA

A

Spliceosomes

86
Q

Gene regulation dictates

A
  1. When
  2. Where
  3. How much
87
Q

The fundamental unit of gene organization and regulation of gene expression in Prokaryotes

A

Operons

88
Q

A set of genes encoding enzymes each of which is required in the same metabolic pathway

A

Operons

89
Q

Genes that encode Regulatory Proteins that control the expression of other genes

A

Regulatory Genes

90
Q

That may function either as Repressors
(or Activators) of gene expression

A

Regulatory Proteins

91
Q

DNA + Histones =

A

Nucleosome

92
Q
  • Chromatin is compacted
  • Histone tails have methyl groups
  • DNA is inaccessible
A

Heterochromatin

93
Q
  • Chromatin is ‘open’ or ‘loose’
  • Histone tails have acetyl groups
  • DNA is accessible
A

Euchromatin

94
Q

Amino acids linked together via peptide bonds

A

Polypeptide

95
Q

A polymer with a sequence of 20 different amino acids

A

Protein

96
Q

The mRNA sequence is decoded _ bases at a time

A

3

A codon

97
Q

One codon specifies ____ amino acid

A

one

98
Q

The decoding machinery disengages from the mRNA when it encounters a

A

STOP Codon

99
Q

The Anticodon region recognizes and binds to a codon in _RNA by base pairing

A

m

100
Q

How does a given tRNA acquire its specific amino acid?

A

Aminoacylation

101
Q

What do ribosomes do?

A

Make protein

102
Q

When a ____ enters the A site of the ribosome, a protein called Release Factor is recruited

A

STOP codon

103
Q
  • many ribosomes translating a single mRNA
  • A protein production line
A

Polysomes

104
Q

Individuals with different forms (alleles) of the same gene

A

Variants

105
Q

Variants are typically referred to as ____, if they have
been deliberately produced in the laboratory

A

mutants

106
Q

Somatic mutations

A

Not inherited

107
Q

Germline mutations

A

Inherited

108
Q

What is a mutation caused by external factors?

A

Induced

109
Q

What is a mutation caused by errors in DNA replication?

A

Spontaneous

110
Q

Chemical mutagens that cause cancers.

A

Carcinogens

111
Q

Example of a missense mutation

A

Sickle Cell Disease