Before midterm Flashcards

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1
Q

DNA

A

Deoxyribonucleic acid; information-carrying genetic material that compromises the genes

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2
Q

RNA

A

Ribonucleic acid; information-carrying material derived from DNA by transcription

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3
Q

Polymers

A

Subunits bonded together

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4
Q

Nucleotide

A

Polymer of DNA and RNA compromised of:
Phosphate group
5-C sugar
Cyclic N-containing base

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5
Q

Adenine

A

Purine base found in RNA and DNA

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6
Q

Thymine

A

Pyrimidine base found in DNA

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7
Q

Cytosine

A

Pyrimidine base found in DNA and RNA

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8
Q

Guanine

A

Purine base found in DNA and RNA

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9
Q

Uracil

A

Pyrimidine base found in RNA in place of thymine

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10
Q

Pairs with thymine

A

Adenine

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11
Q

Pairs with cytosine

A

Guanine

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12
Q

Purine

A

Double-ring bases

i.e. Adenine and Guanine

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13
Q

Pyrimidine

A

Single-ring bases

i.e. Cytosine and thymine

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14
Q

Phosphodiester bonds

A

Connect nucleotides

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15
Q

Characteristics of DNA structure

A

Double-helix
Two strands held together by hydrogen bonds between complementary bases
Strands run antiparallel
Two strands have opposite chemical polarity

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16
Q

Makes DNA uniquely suited to store and transmit genetic information

A

Complementarity of strands

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17
Q

Two strands have opposite chemical polarity

A

One runs 5’ to 3’ so at the 5’ end there is a free phosphate group and at the other a free hydroxyl group
The other strand runs 3’ to 5’

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18
Q

Most common form of DNA

A

B-DNA (conformation that DNA takes under physiological conditions (aqueous protoplasms)

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19
Q

Important for protein binding

A

Major and minor grooves

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20
Q

Major and minor grooves

A

Two grooves of a DNA double helix are not identical

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21
Q

Chromatin

A

Complex of DNA and proteins in eukaryotic chromosomes

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22
Q

Chromosome

A

Darkly staining nucleoprotein bodies that are observed in cells during division. Each chromosome carries a linear array of genes

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23
Q

How do we go from DNA to chromosome?

A

Chromosomes contain a single giant molecule of DNA extending from one end to the other but is highly condensed (needs to be in order to get 3 billion genes into one tiny cell)

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24
Q

Chromosomes are composed of

A

DNA, RNA, proteins

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25
Q

First level of condensation

A

Packaging DNA as negative supercoil into nucleosomes (2nm –> 11nm)

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26
Q

Produces an 11 nm fibre

A

First level of condensation (negative surer coil)

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27
Q

Nucleosome

A

Nuclease-resistant subunit of chromatin that consists of about 146 nucleotides of DNA wrapped around 8 histone proteins

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28
Q

Nucleosome core

A

8 histone protein core (octamer) chills while being wrapped in DNA

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29
Q

Linker region

A

Space connecting nucleosome balls

Bunch of DNA that varies in length from 8 to 114 nucleotide pairs

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30
Q

Endonuclease

A

Enzymes inside nucleus

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31
Q

Second level of condensation

A

Additional folding or supercoiling of 11 nm nucleosome fibre to produce a 30 nm chromatin fibre
Driven by nucleosomal interactions and histone H1 very improtant

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32
Q

30 nm fibre

A

The basic structural unit of the metaphase chromosome (DNA in its most condensed form

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33
Q

Histones

A

Group of proteins rich in basic amino acids that function in the coiling of DNA in chromosomes and in the regulation of gene activity

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34
Q

H1

A

After DNA wraps around nucleosome core, 9th guy (histone) comes in and anchors to seal the deal forming a complete nucleosome

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35
Q

Complete nucleosome

A

DNA wrapped around 8 histone protein core and then anchored by 9th histone called Histone H1

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36
Q

Third level of condensation

A

Attachment of the 30 nm fibre at many positions to a non-histone protein scaffold

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37
Q

Cohesins

A

Proteins that hold sister chromatids together at centromere

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38
Q

Condensins

A

Proteins that function to condense 30 nm DNA fiber of chromatin within one sister chromatid

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39
Q

Non-histone units

A

Cohesin and condensins

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40
Q

Centromere

A

Provide the point of attachment of chromosomes to microtubules in the mitotic spindle

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41
Q

Important for meiotic and mitotic processes

A

Centromeres

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42
Q

Mitotic spindle

A

Macromolecular machine that segregates chromosomes to two daughter cells during mitosis

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43
Q

Telomeres

A

These guys chill on the ends of chromosome to protect them from being eaten by enzymes and to prevent them for merging together with other chromosome ends and facilitate replication of the ends of the linear DNA

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44
Q

Mitosis

A

Disjunction of duplicated chromosomes and division of the cytoplasm to produce two genetically identical daughter cells

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45
Q

Diploid

A

An organism or cell with two sets of chromosomes (2n) or two genomes

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46
Q

Haploid

A

An organism or cell having only one complete set of chromosomes (n) or one genome

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47
Q

Two diploid cells

A

Final product of mitosis of diploid cell

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48
Q

Four haploid cells

A

Final product of meiosis of diploid cell

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49
Q

Chromatid

A

One of the two identical strands resulting from self-duplication of a chromosome in mitosis or meiosis

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50
Q

Identical sister chromatids

A

Each mitotic chromosome is comprised of a pair of sister chromatids (so real name of chromosomes)

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51
Q

Daughter cell

A

Product of cell division

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52
Q

Disjunction

A

Separation of homologous chromosomes during anaphase of mitotic or meiotic divisions

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53
Q

In mitosis ________ __________ and ___________ ________ are divided more or less equally between daughter cells

A

Cellular organelles, cytoplasmic contents

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54
Q

In mitosis __ and _____ _______ are fragmented at the time of division and reformed in the daughter cells

A

E.R., Golgi complex

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55
Q

___________ and ____________ are randomly divided between daughter cells

A

Mitochondria, chloroplasts

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56
Q

_______ ___________ must be duplicated exactly and distributed equally and exactly to daughter cells

A

Nuclear chromosomes

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57
Q

Cell Cycle

A

Set of stages of cell division

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58
Q

Main stages of cell cycle

A
G1
S
G2
M
Interphase
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59
Q

G1 phase

A

Gap 1: Growth, cellular metabolism

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60
Q

S phase

A

Synthesis: DNA replication (chromosome duplication)

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61
Q

G2 phase

A

Gap 2: Preparation for mitosis

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62
Q

M phase

A

Mitosis: Chromosomal separation and cytokinesis

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63
Q

Interphase

A

The time between successive mitoses

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64
Q

Cells that are not actively cycling

A

Enter a state called G0 from G1 and are said to be quiescent

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65
Q

Preparation for mitosis

A

Making proteins like cohesins and condensins

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66
Q

When mitosis begins

A

Each chromosome has been duplicated

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67
Q

“c”

A

DNA content

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68
Q

DNA content in haploid cell

A

“c”

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69
Q

DNA content in diploid cell

A

“2c”

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70
Q

Number of unique genes

A

“n”

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71
Q

Weight of DNA

A

“c”

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72
Q

Somatic cell

A

A cell that is a component of the body, in contrast with a germ cell that is capable, when fertilized, of reproducing the organism

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73
Q

Diploid somatic cell

A

“2n, 2c”

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74
Q

Diploid somatic cell after DNA replication

A

“2n, 4c”

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75
Q

IPMAT

A
Cycle of mitosis:
Interphase
Prophase
Metaphase
Anaphase
Telophase
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76
Q

Interphase

A

Chromosmes duplicate to produce sister chromatids

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77
Q

Homologous chromosomes

A

Chromosomes that occur in pairs and are generally similar in size and shape, one having come from the male parent and one from the female parent

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78
Q

Chromosomes containing the same array of genes

A

Homologous chromosomes

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79
Q

Prophase

A

Duplicated chromosomes condense, holding on through cohesin and condensin

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80
Q

Metaphase

A

Duplicated chromosomes migrate to the equatorial plane (midway between spindle poles) of the cell and the nuclear membrane breaks down

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81
Q

Anaphase

A

Cohesion breaks down and sister chromatids of each duplicated chromosome move to opposite poles of the cell, spindle poles moving further apart

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82
Q

Telophase

A

Chromosomes cluster at opposite spindle poles and become dispersed and decondense (condensin is degraded) finally a nuclear envelope assembles around chromosomes

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83
Q

Cytokinesis

A

During telophase daughter cells form and are “2n, 2c” once again

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84
Q

Microtubule organizing center (MTOCs)

A

Region in eukaryotic cell that generates microtubules used during cell division
Always exist but only organize during mitosis

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85
Q

Short arm

A

“p”

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86
Q

Long arm

A

“q”

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87
Q

Occurs in bodies stem cells

A

Mitosis

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88
Q

Occurs in germ (sex) cells

A

Meiosis

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89
Q

A cell that is about to divide

A

Parent cell

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90
Q

Daughter cells

A

Products of division

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91
Q

When meiosis begins

A

Duplicated gene

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92
Q

23 pairs of chromosomes

A

Somatic human cells

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93
Q

Different pairs of chromosomes

A

Carry different sets of genes

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94
Q

Homologues

A

Carry the same set of genes

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95
Q

Heterologues

A

Chromosomes from different pairs

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96
Q

Involves two cell divisions

A

Meiosis

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97
Q

Meiosis I

A

Homologous chromosomes separate

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98
Q

Meisosis II

A

Sister chromatids separate

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99
Q

Major difference in meiosis and mitosis

A

Prophase to metaphase

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100
Q

Prophase I

A
  1. Leptonema
  2. Zygonema
  3. Pachynema
  4. Diplonema
  5. Diakensis
101
Q

Leptonema

A

Chromosomes each consisting of two sister chromatids begin to condense

102
Q

Zygonema

A

Homologous chromosomen begin to pair

103
Q

Pachynema

A

Homologous chromosomes are fully paired, crossing over happens

104
Q

Diplonema

A

Homologous chromosomes separate except at chiasmata

105
Q

Crossing over

A

Breakage of chromatids and exchange of broken pieces between homologous chromosomes (non-sister chromatids)

106
Q

Chiasmata

A

Following crossing over homologous chromosomes start to pull apart but remained joined at cross-over junctions

107
Q

Synapsis

A

Pairing of homologous chromosomes

108
Q

Reduction division

A

Cell division in meiosis I

109
Q

Non-disjunction

A

Failure of two homologous chromosomes to pass to separate cells

110
Q

Down-syndrome

A

Chromosome non-disjunction

111
Q

Meiosis I produces

A

Two haploid daughter cells that are genetically distinct

112
Q

Diakensis

A

Paired chromosomes condense further and become attached to spindle fibers

113
Q

Metaphase I

A

Paired chromosomes align at the equatorial plane in the cell

114
Q

Anaphase I

A

Homologous chromosomes disjoin and move to opposite poles of the cell

115
Q

Telophase I

A

Chromosome movement is completed and new nuclei begin to form

116
Q

Meiosis II

A

Resembles a mitotic division except the products are haploid

117
Q

Spermatogenesis

A

The process by which maturation of the gametes of male takes place. All four develop into sperm

118
Q

Oogenesis

A

The formation of the egg or ovum in animals. Usually only one of the four haploid cells becomes an egg the other three degenerate

119
Q

Locus

A

Specific region on a chromosome (could be a gene or any unique sequence)

120
Q

Allele

A

Alternate form of a gene (A or a)

121
Q

Upper case letter

A

Dominant allele

122
Q

Dominant allele

A

Expressed factor

123
Q

Recessive allele

A

Latent factor

124
Q

Lower case letter

A

Recessive allele

125
Q

Alleles are typically designated after the

A

Recessive trait

126
Q

Genotype

A

Allelic combination

127
Q

Phenotype

A

Physical appearance

128
Q

Wild type

A

The customary phenotype or standard for comparison

129
Q

Gametogenesis

A

Formation of gametes beginning when undifferentiated diploid cells undergo meiosis to produce haploid cells. The haploid cells then differentiate into mature gametes “n, c”

130
Q

Spermatogonia, oogonia

A

Undifferentiated diploid cells “2n, 2c”

131
Q

Primary o/spermat-ocyte

A

Before completion of first meiotic division “2n. 4c”

132
Q

Secondary o/spermat-ocyte

A

After completion of first meiotic division “n, 2c”

133
Q

Gametes

A

Mature male or female reproductive cell

134
Q

Inbreeding

A

Matings between related individuals

135
Q

Inbreeding leads to

A

High probability of recessive mutations popping up

136
Q

Designed to study one trait at a time

A

Mendel’s experiments

137
Q

Homozygous

A

Both alleles are identical (ll or aa or BB)

138
Q

Heterozygous

A

Two alleles are different (Ll or aA or Bb)

139
Q

P0

A

Parental generation in a genetic cross

140
Q

F1

A

Offspring generation in a genetic cross

141
Q

F2

A

Grand-offspring generation in a genetic cross

142
Q

Monohybrid cross

A

A cross between parents in which only one trait is being considered

143
Q

Mendel’s heritable factor

A

Gene

144
Q

Principle of dominance

A

In a heterozygote one allele may conceal the presence of another

145
Q

Principle of segregation

A

In a heterozygote two different alleles (l and L) segregate from each other during the formation of gametes

146
Q

Hybrid

A

An offspring of a cross between unrelated strains (homo parents different in one or more genes)

147
Q

Principle of independent assortment

A

Alleles on different pairs of chromosomes assort independently from one another, occurring during anaphase 1 of the meiotic cycle

148
Q

Monohybrid cross ratio

A

3:1

149
Q

Dihybrid cross ratio

A

9:3:3:1

150
Q

Produces one kind of gamete

A

Homozygous parent

151
Q

Equation for possible haploid gametes?

A

Alleles^genes

152
Q

Punnet square method

A

Possible gametes go across top and side then fill in square

153
Q

Forked-line method

A

Look at each gene independent of one another

154
Q

Probability method

A

Find probability of each independent event occurring

155
Q

Multiplicative rule

A

Probability of independent events occurring together is the product of their individual probabilities of occurrence (and = X)

156
Q

Additive rule

A

Probability of at least one event happening is the sum of their individual probabilities (or = +)

157
Q

Test cross

A

Performed to determine individual’s genotype. Individual of unknown genotype must be crossed with a homozygous recessive individual

158
Q

Pedigrees

A

Diagrams that show the relationships among the members of a family

159
Q

Trait is likely showing a recessive mode of inheritance

A

If…
the trait suddenly appears in a pedigree
the trait “skips” a generation

160
Q

Assume that unrelated individuals marrying into the family…

A

Do not carry the recessive allele

161
Q

A trait is likely showing a dominant mode of inheritance

A

If…
every individual has at least one affected parent
the trait is manifested in at least one individual in every generation once the trait appears

162
Q

Binomial probability

A
For a total number of "n" progeny we can calculate that exactly "x" number will fall into one class and "y" number will fall into another
(n!/x!y!)p^xq^y
163
Q

The absence of a phenotype

A

Doesn’t necessarily reflect the absence of a causative genotype

164
Q

Huntington’s disease

A

Neurodegenerative disorder in humans caused by an autosomal dominant mutation and one of the first genetic diseases mapped on pedigree scheme

165
Q

Autosomal chromosomes

A

Not a sex chromosome (22)

166
Q

XX

A

Females

167
Q

XY

A

Male

168
Q

Pseudoautosomal genes

A

Genes present on both the X and Y chromosomes but mostly in the terminal regions. They do no follow X or Y-linked patterns of inheritance

169
Q

Hemizygous

A

Only one copy of chromosome

Gene on X chromosome doesn’t have homolog on Y chromosome

170
Q

X-linked mutation

A

In a hemizygous state (XY) if one gene is mutated and is recessive the recessive allele would manifest itself. In a heterozygous state the recessive allele would be suppressed by dominant wild type allele (XX)

171
Q

X-linked recessive disorder

A

Hemophilia or colorblindness

172
Q

More common in males than in females

A

Disorders which are caused by recessive X-linked mutations

173
Q

Y chromsome

A

Carries fewer genes than the X chromosome

174
Q

X-inactivation

A

Dosage compensation of X-linked genes (i.e. not fair that there are twice as many genes on the X chromosome in females than in males so in mammals one of the female X-chromosomes are inactivated)

175
Q

Barr body

A

A condensed mass of chromatin found in the nuclei of placental mammals that contains one or more X chromosomes (altered state of inactive X-chromosome)

176
Q

Dosage compensation in Drosophila

A

Achieved by hyper activating the single X chromosome in males

177
Q

Dosage compensation in cats and mice

A

Results in a mosaic coat colour because the gene for coat colour resides on the X-chromsome

178
Q

Mutation

A

A change in the DNA at a particular locus in an organism

179
Q

Spontaneous mutations

A

A result of an error during DNA synthesis:

  • Incorporation of rare isoforms of the four bases that have altered base pairing properties
  • The inherent fallibility of replication proteins
180
Q

Tautomers

A

Two existing isoforms of the nitrogenous bases of DNA

181
Q

Incorporation of a rare isoform during DNA replication

A

Can lead to a change in DNA sequence

182
Q

Rare isoforms

A

Have altered base pairing properties

183
Q

Inherited mutations

A

Mutations of DNA in the germ line (during mitotic divisions of spermatogonia or oogonia)

184
Q

Palindromes

A

A segment of DNA in which the base-pair sequence reads the same in both directions from a central point of symmetry

185
Q

Hot spots for spontaneous mutations during DNA synthesis

A

Simple repeats
Symmetrical repeats
Palindromes

186
Q

Induced mutations

A

Exposure to chemical mutagens
Exposure to radiation (UV light)
DNA transposable elements

187
Q

Thymine dimer

A

Pyrimidines adsorb UV energy resulting in dimerization. This creates a hiccup for DNA polymerase and it causes changes in DNA sequence

188
Q

Point mutation

A

Changes that occur at specific sites in genes (involving a change of only one nucleotide base)

189
Q

Three types of point mutations

A
  1. Silent
  2. Nonsense
  3. Missense
190
Q

Silent mutation

A

When the one nucleotide base that is changed creates a codon synonymous to the original codon then the mutation has no effect

191
Q

Nonsense mutation

A

When the one nucleotide base alters the codon so that it creates a premature stop codon

192
Q

Missense mutation

A

When the one nucleotide base alters a codon so that it no longer makes sense (specifying a different amino acid than the original codon)

193
Q

Frameshift mutations

A

A mutation that changes the reading frame of an mRNA (either by inserting or deleting nucleotides)

194
Q

Types of frameshift mutation

A
  1. Insertion

2. Deletion

195
Q

Insertion mutation

A

When a series of extra base pairs is inserted into DNA

196
Q

Deletion mutation

A

When a series of DNA base pairs are deleted or lost

197
Q

Mutations that affect the coding region

A
  1. Change protein to a non-functional form
    - premature truncation
    - changes to protein folding
  2. Changes in post-translational modification
    - prevent proper localization of the protein
    - “unactivatable”
198
Q

Changes to protein folding

A
  • Prevent proper localization of the protein
  • Targeted for degredation
  • Compromised activity
199
Q

Mutations that affect non-coding regions

A
  1. Prevent or reduce transcription
  2. Prevent or reduce translation
    - mRNA is unstbale
    - ribosomes can’t bind
    - mutation of the start codon
200
Q

____________ _________ are mutations that occur without a known cause

A

Spontaneous mutations

201
Q

Polymorphism

A

Ant allele found at appreciable frequencies (at least 1%) in the population

202
Q

Different mutations in a gene

A

Can cause the same disorder

203
Q

Almost always involve a loss of gene function

A

Recessive mutations

204
Q

Null allele

A

Complete loss of function

205
Q

Partial loss of function

A

hypomorphic allele

206
Q

Dominant mutations

A

Can involve a loss of protein function OR a gain of protein function

207
Q

Incomplete dominance

A

A loss of function mutation where mutant phenotype of Aa is between AA and Aa (heterozygotes with one copy of the dominant allele have half the functional gene dosage)

208
Q

Dominant negative

A

A loss of function mutation that can interfere with function of the wild type protein

209
Q

Gain of function mutation

A
  • Enhances the function of the wild type protein

- A new function is created

210
Q

Antenna mutation in Drosophila

A

(Dominant) gan of function mutation

211
Q

Codominance

A

Heterozygote expresses the phenotypes of both homozygotes

212
Q

Allelic series

A

Describes the dominance hierarchy of multiple alleles

213
Q

Outside Mendel’s garden

A
  • Genes may (and usually) have more than 2 alleles
  • Different alleles may affect the phenotype in different ways
  • A single gene may control several traits
  • Multiple genes may control a single trait
214
Q

Complementation test

A

You wan to find out if you have a new mutation in a novel gene, or is it just another allele of an already known mutation so you cross the two mutants together and whatever phenotype you get has to be explained by Mendelian ratios

215
Q

Phenotypes are influence by

A

Both genetic and environmental factors

216
Q

Conditional alleles/mutations

A

Expressivity is environmentally-dependent

217
Q

Incomplete penetrance

A

Individuals do not express a trait even though they have the appropriate genotype

218
Q

Variable expressivity

A

A trait is not manifested uniformly among individuals that show it

219
Q

Central dogma

A

The two step process transferring of information from DNA to protein (DNA transcription –> Translation –> protein)

220
Q

Genes encode

A

One of five known types of RNA

221
Q

Five known types of RNA

A
snRNA
rRNA
tRNA
mRNA
Pre-miRNA
222
Q

snRNA

A

Participates in sliceosome (stays inside nucleus)

223
Q

rRNA

A

Ribosomal RNAs transcribed from one of the DNA strands of a gene and provide structural support/catalyze chemical reaction in which amino acids are covalently linked (part of ribosome in cytoplasm)

224
Q

tRNA

A

Carry amino acids to complex to allow expansion of polypeptide chain (part of ribosome in cytoplasm)

225
Q

mRNA

A

Messenger RNA assembled as a complementary copy of one of the two DNA strands
Nucleotide sequence is complimentary to the of the gene from which it is transcribed
Allows cells to separate information storage from information utilization
Analogy: You make a copy of a page in your textbook so that you can carry the information around with you without carrying textbook so that you don’t lose it
(nucleus and cytoplasm)

226
Q

Pre-miRNA

A

Bind to regions (typically 3’ end) and prevent transcription/translation (work in cytoplasm)

227
Q

Hydroxyl group on 2’ C of ribose

A

RNA

228
Q

Template strand

A

The DNA strand that is copied in transcription to produce a complementary strand of RNA

229
Q

Non-template strand

A

The nontranscribed strand of DNA in transcription that will have the same sequence as the RNA transcript except that T is present at positions where U is present in the RNA transcript

230
Q

DNA template

A

3’ to 5’ direction

231
Q

RNA is transcribed

A

5’ to 3’ direction

232
Q

RNA polymerase

A

Enzyme that catalyzes the synthesis of RNA

233
Q

During transcription the DNA double helix

A

Is locally unwound

234
Q

Differences between RNA and DNA?

A
RNA uses a ribose sugar, DNA uses a deoxyribose sugar
RNA uses Uracil, DNA uses Thymine
RNA is unstable, DNA is stable
RNA is transcribed from DNA
Protein is translated from RNA
235
Q

Why is RNA unstable?

A

You don’t want mRNA to hang around any longer than it needs to be to be translated so it degrades very rapidly

236
Q

How does transcriptional machinery know where to begin?

A

RNA polymerase has to recognize code in DNA

237
Q

TATA box

A

A conserved promoter sequence that determined the transcription start site for eukaryotes

238
Q

Initiation and termination of transcription in prokaryotes and eukaryotes

A

Are significantly different

239
Q

Promoter

A

A nucleotide sequence to which RNA polymerase binds and initiates transcription

240
Q

Transcription in prokaryote

A

Initiation: mRNA starts at position 1 , 10 and 35 nucleotides upstream there are promoter regions
Elongation: genes are closely spaced and several can be encoded on a single RNA molecule
Termination: Transcription terminator sequence (Poly A track and hairpin loop) hint for polymerase to jump off

241
Q

Transcription terminator sequence

A

Signals end of transcription

242
Q

Introns

A

Noncoding sequences located between coding sequences

243
Q

Pre-mRNA

A

Introns present

244
Q

Mature mRNA

A

Introns are removed

245
Q

Exons

A

(Both codon and noncoding sequences) are composed of the sequences that remain in the mature mRNA after splicing

246
Q

Transcription factor

A

A protein that regulates the transcription of genes

247
Q

TATAAT sequence

A

An AT-rch sequence in prokaryotic promoters that facilitates the localized unwinding of DNA and the initiation of RNA synthesis

248
Q

Eukaryotic transcription

A

Initiation: Transcription factor binds to TATA box (promoter region) in order to help assemble transcription machinery
Elongation
Termination: Enzyme cuts strand of RNA, a 5’ cap is added, a tail Poly-A tail is added at the 3’ end of the strand, introns are spliced out