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Final Exam Genetics Flashcards

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Biology 101 flashcards
1
Q

Heritable alterations in DNA sequence

A

Mutations

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2
Q

Locations on a chromosome

A

Loci

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3
Q

An individual with two different alleles at the same locus is

A

Heterozygous

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4
Q

For complete dominance the phenotype seen in a heterozygous individual is the result of

A

Dominant allele

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5
Q

And allele who’s phenotype is not expressed in a heterozygote

A

Recessive allele

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6
Q

A cross between true breeding parents that differ at only one trait is a

A

Mono hybrid cross 3 to 1

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7
Q

Cross between parents that differ into traits 9:3:3:1

A

Dihybrid cross

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8
Q

Used to determine the genotype of one showing a dominant phenotype by mating with individual showing recessive phenotype. 1:1 or all dominant.
Also, a cross between an individual of known genotype to a homozygous recessive individual.

A

Test cross

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9
Q

Cross an F1 to an individual with an identical genotype to the parent or the actual parent

A

Back cross

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10
Q

1:2:1

A

Incomplete dominance. When an F1 hybrid does not resemble either true breeding parent. Intermediate phenotype where both alleles contribute to the phenotype. Pink flowers.
AaxAa

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11
Q

3:1

A

Complete dominance. AaxAa

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12
Q

9:3:4 AaBb x AaBb

A

Recessive epistasis. Case of epistasis in which the epistatic allele is recessive. labs. When the presence of two recessive alleles at one gene mask the effects of the alleles at a second Jean.

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13
Q

The effects of a dominant allele at one gene hide the effects of the allele at another Gene

A

Dominant epistasis.

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14
Q

9:7 AaBb x AaBb at least one dominant allele is necessary, genes working in tandem to produce a particular trait. Purple flowers in sweet peas A-B-

A

Complementary Gene action

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15
Q

Both traits show up equally in the heterozygote in the F1, in the in the F2 1:2:1. Blood group alleles (a plus B sugars) AB blood type

A

Codominance

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16
Q

Phenomenon in which a single gene determines a number of distinct and seemingly unrelated characteristics.

A

Plieotropy

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17
Q

Alternate forms of a gene are called

A

Alleles

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18
Q

Occurs in individuals who have inherited two recessive allele of the H Jean and do not produce the H carbohydrate that is precursor to A and B antigens. They may possess either or both alleles but are unable to express them. Looks type O. Recessive epistasis.

A

Bombay phenotype

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19
Q

A trait determined by more than one gene, or a gene and the environment

A

Multi-factorial

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20
Q

Phenomenon in which a single gene determines A number of distinct and seemingly unrelated characteristics. More than one effect.

A

Plieotropy

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21
Q

Indicates how many members of a population with a particular genotype show expected phenotype.

A

Percent penetrance

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22
Q

The degree or intensity with which a particular genotype is expressed

A

Expressivity

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23
Q

Process in which heterozygosity for loss of function mutant recessive allele for two different genes that affects the same pathway produces normal phenotype

A

Complementation

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24
Q

Condition in females caused by the presence of only one X chromosome

A

Turner syndrome

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25
Q

A condition caused by the presence of multiple X chromosomes in males.

A

Klinefelter syndrome

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26
Q

Tetratypes

A

Yeast with four different spores in an ascus

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27
Q

A tetrad that contains four parental class haploid cells. 2 one parent 2 the other parent

A

Parental ditypes

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28
Q

A fungal tetrad containing for recombinant spores

A

Non-parental ditypes

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29
Q

The prevention of the second crossover in a pair of homologous chromosomes

A

Interference

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30
Q

Can lead to twin spots and form a genetic mosaicism

A

Mitotic recombination

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31
Q

Sister chromatids pulled apart, centromeres split

A

Anaphase

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32
Q

Homologous chromosomes align in the middle of the meiotic spindle

A

Metaphase one

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33
Q

Chromosomes condense, mitotic spindle forms, nuclear membrane breaks down

A

Prophase

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34
Q

Chromosomes decondense, nuclear membrane forms around each identical nucleus.

A

Telophase

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35
Q

Cytoplasm divides

A

Cytokinesis

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36
Q

Chromosomes align in the middle of the mitotic spindle

A

Metaphase

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37
Q

Prophase one

A

Homologous chromosomes synapse, crossing over occurs

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38
Q

Homologous chromosomes pull apart

A

Anaphase one

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39
Q

G1 synthesis and G2

A

Interphase

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40
Q

Haploid nuclei formed

A

Telophase 1

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41
Q

The two alleles for each trait separate (segregate) during gamete formation, and then you night at random, one from each parent at fertilization.

A

Law of segregation

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42
Q

Equal. in which one allele, and only one allele, of each gene goes into each gamete

A

Segregation

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43
Q

During gamete formation, different pairs of alleles segregate independently of each other

A

Law of independent assortment

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44
Q

The kind of nuclear division followed by somatic cell division that results into daughter cells contain the same number and type of chromosomes as the original parent cell.

A

Mitosis

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45
Q

The kind of nuclear division that generates a or sperm cells containing half the number of chromosomes found in other cells within the same organism. In Germ cells, chromosomes composing each pair become segregated, so that the resulting gametes receive only one chromosome from each chromosome pair.

A

Meiosis

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46
Q

Diploid oogonia undergo mitosis to produce blank.

A

diploid arrested primary oocyte

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47
Q

Arrested primary oocyte undergoes meiosis one to produce blank polar body

A

First

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48
Q

Blank undergoes meiosis two in order to form second polar body and blank upon fertilization

A

Secondary oocyte, mature haploid ovum

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49
Q

One of three cells after miosis results in one blank

A

Gamete

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50
Q

Ooenesis begins in the blank

A

Fetus

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51
Q

Fully formed ovaries after

A

Six months

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52
Q

Blank oocytes locked in synapsis (blank) though new eggs can be reproduced in adult stem cells

A

Primary, prophase one

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53
Q

At ovulation the arrested primary oocyte completes blank and proceeds to blank of meiosis two

A

Meiosis one, metaphase

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54
Q

If oocyte is blank it completes meiosis two

A

Fertilized

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55
Q

For 30 to 45 years a woman releases one egg per month until

A

Menopause

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56
Q

Spermatogonia produce blank through mitosis

A

Diploid primary spermatocytes

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57
Q

One primary spermatocyte undergoes symmetrical meiosis one producing two blank spermatocytes

A

Secondary

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58
Q

Two secondary spermatocytes undergo symmetrical meiosis blank to yield blank spermatids

A

Two, four

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59
Q

Each primary spermatocyte yields blank haploid spermatids that mature into sperm plus X or Y

A

Four

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60
Q

Spermatogenesis begins at blank and throughout life can produce billions of sperm

A

Puberty

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61
Q

The proximity of two or more markers on chromosome. The closer together the markers are the lower the probability that they will be separated by recombination. Jeans are linked when the frequency of parental type progeny exceeds that of recombinant progeny.

A

Linkage

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62
Q

Recombinants / total # F1 = %

A

Recombination frequency

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63
Q

Total genotypes of parents / total # F1

A

Distance in map units

64
Q

In a heterozygote, change in the base sequence of one allele to that of another allele as a result of heteroduplex formation and mismatch repair during recombination. Detected as deviation from the expected 2 to 2 segregation of parental alleles.

A

Gene conversion

65
Q

The hydrolysis of A purine base, a or g from the deoxyribose – phosphate backbone. Unspecified base.

A

Depurination

66
Q

The removal of an amino group -NH2 changing C to U the nitrogenous base found in RNA, transition.

A

DEamination

67
Q

Remove damaged bases (analogues)

A

Bass excision repair

68
Q

Corrects damage nucleotides cut backbone thymine dimers

A

Nucleotide excision repair

69
Q

DNA polymerase inserts and incorrect nuclear tide and it’s own proofreading ability does not detect this mistake on D and methylated strand of DNA. Which method of repair?

A

Mismatch repair

70
Q

The aims uses his minus salmonella typhiMerriam test tests for

A

Mutagen

71
Q

Specialized sequence near the beginning of Jean, template strand

A

Promoter

72
Q

10 base pair upstream of first transcribed nucleotide on promoter in eukaryotes. Control region helps find RNA polymerase two to recognize the promoter

A

Tata box

73
Q

Extrinsic Terminator

A

Roh protein

74
Q

F Met Binds to aug in prokaryotes

A

Shine DelGarno box

75
Q

Five prime methylated guanine, three prime polly a tail, removal of Intron’s, combining of Exxons.

A

Modifications made to RNA in eukaryotes

76
Q

Some tRNAs recognize more than one codon for the amino acid they carry, silent mutation

A

Wobble

77
Q

Changes in one amino acid to another

A

Missense mutation

78
Q

Alters the grouping of nucleotides into codons

A

Frameshift mutation

79
Q

Changes code on that encodes and amino acid into a stop codon

A

Nonsense mutation

80
Q

Complex of five small nuclear RNAs and 50 proteins organized into for nuclear ribonucleic particles eukaryotes splices RNAs

A

Splicosome

81
Q

Catalyze a the attachment of tRNAs to corresponding amino acids

A

Aminoacetyl tRNA synthetases

82
Q

Sites of polypeptide synthesis, amino acetyl site A peptidyl P exit site e

A

Ribosomes

83
Q

When one mutated allele is sufficient to disrupt the entire protein function

A

Dominant negative

84
Q

Affects gene expression or reduces Jean function

A

Loss of function mutation

85
Q

Loss of the wild type Jean or mutation that functions less effectively

A

Hypomorphic

86
Q

Type of mutation that results in a gene being expressed in a new place or new time

A

Ectopic expression

87
Q

Positive regulator at a promoter. Enhances transcriptional activity

A

CRP camp

88
Q

Relaxed usually transcriptionally active regions of the Genome

A

Euchromatin

89
Q

condensed in all cells most of the Y

A

constitutive Heterochromatin

90
Q

Condensed only in some cells

A

Facultative heterochromatin

91
Q

Variable expression of a gene in a population of cells caused by the jeans location near highly compacted heterochromatin

A

Position effect variegation

92
Q

Enzymes that ad acetyl groups to lysine residues in histone tails in order to open up chromatin and allow transcription

A

Histone acetyltransferases hats

93
Q

Close chromatin and repress transcription remove acetyl groups

A

Histone deacetylase

94
Q

Enzymes that methylate histone tails

A

Histone methyltransferases (HMTS)

95
Q

Group of proteins responsible for holding sister chromatids together until their separation in anaphase or anaphase 2

A

Cohesins

96
Q

Ribosomal RNA is transcribed by…

A

RNA polymerase one

97
Q

Messenger RNA and MiRNA are transcribed by…

A

RNA polymerase Two

98
Q

TRNA is transcribed by…

A

RNA polymerase III

99
Q

Tata binding protein is a…

A

Basal transcription factor

100
Q

Eukaryotic transcription factors that bind specific DNA sites near a gene and prevent the initiation of transcription of the gene by recruiting call repressor proteins that either prevent the RNA polymerase II complex from finding the promoter or modify histones to close chromatin structure

A

Repressors

101
Q

Eukaryotic transcription factors that bind specific DNA sites near a gene and prevent the initiation of transcription of the gene by recruiting call repressor proteins that either prevent the RNA polymerase II complex from finding the promoter or modify histones to close chromatin structure

A

Insulator

102
Q

Competition due to overlaping binding sites, quenching, (repressor blocks activation domain) cytoplasmic sequestration, heterodimerization

A

Ways a repressor can decrease the level of transcription of a specific gene

103
Q

Methylation CPG islands is associated with…

A

Silencing

104
Q

A maternally imprinted Jean is…

A

Silent

105
Q

A paternally imprinted Jean is…

A

Silent

106
Q

Geneticist use DSRNAs and SIRNA is to decrease blank expression and help determine the function of a blank product.

A

Gene

107
Q

Molecular signals that influence cell growth and division

A

Growth factor

108
Q

Growth factors that stimulate cell proliferation

A

Mytogens

109
Q

Proteins who’s levels fluctuate during the cell cycle. They specify which set of proteins are phosphorylated..

A

Cyclins

110
Q

Proteins that can phosphorylate other proteins when bound to molecules who’s levels rise and fall during the cell cycle

A

Cyclin dependent kinases

111
Q

To hit hypothesis. Both copies of jeans and coding P 53 or RB need to be mutated because they function as…

A

Tumor suppressor genes

112
Q

Proteins with signal binding site outside the cell, transmembrane segment, and and intracellular domain

A

Growth factor receptors

113
Q

When mutated, jeans and coding receptors and signal transducers like Ras can become…

A

Oncogenes

114
Q

Translocation between chromosomes 9 and 22 that is associated with chronic myelogenous leukemia is called…

A

Philadelphia chromosome

115
Q

Proteins with signal binding site outside the cell, transmembrane segment, and and intracellular domain

A

Growth factor receptor

116
Q

Also called microsatellites, 1 to 10 bases repeated in tandem 10 to 100 times occur once in every 30 kilobases have no effect except in trinucleotide repeats within jeans. Highly polymorphic.

A

Simple sequence repeats

117
Q

Short insertions or deletions of a single base pair or a few base pairs, occur once about every 10 kilobases

A

Deletion - insertion polymorphisms

118
Q

Large blocks of duplications or deletions from 100 BP to 10 mb. Most are inherited. Highly polymorphic because of their potential for unequal crossing over.

A

Copy number variants

119
Q

Codis uses, Huntington’s disease

A

Simple sequence repeat SSRS

120
Q

A technique that uses A restriction enzyme that will cut one SnP but not another

A

Restriction fragment length polymorphisms RFLP

121
Q

It is more likely that a disease Jean and DNA marker are linked

A

Lod score of 3

122
Q

Cystic fibrosis has a number of mutations occurring in the same gene.

A

Allelic heterogeneity

123
Q

The alleles carried by all members of a population

A

Gene pool

124
Q

Allows geneticists to model allele frequency changes over many generations in a set number of individuals of each genotype

A

Monty Carlo simulation

125
Q

A situation which leads to balancing selection

A

Heterozygote advantage

126
Q

When W equals zero

A

No individuals of that genotype survive to reproduce

127
Q

When Carl Coren’s used pollen from a verigated 4 o’clock plant to fertilize eggs from Green 4 o’clock plant the F1 offspring were always blank like the blank parent

A

Green, maternal.

128
Q

Cells that contain mitochondria that are genetically different are

A

Heteroplasmic plasmic

129
Q

Which tissue would be affected with the lowest percentage of mutant mitochondria?

A

Nervous tissue

130
Q

The evolution of Homo sapiens is best explained by the

A

Out of Africa hypothesis

131
Q

Helix loop helix, zinc finger, helix turn helix

A

Examples of DNA binding

132
Q

Example of dimerization

A

Leucine zipper

133
Q

Uses DDNtps to determine order of nucleotides

A

DNA sequencing

134
Q

Imprinting. Post transcriptional modifications (splicing, stability, tissue specific expression). Protein (stability location, modification). DNA methylation.

A

Mechanisms of gene expression

135
Q

Growth advantage. Not being subject to cell cycle. Mutation in DNA repair mechanisms. Contact inhibition. Immune surveillance. Autocrine stimulation. Angiogenesis. Express telomerase. breakthrough Basal membranes. Metastasize.

A

How a cancer cell differs from a normal cell

136
Q

FSH, harvests eggs, fertilization in Vitro, incubate eggs, 6 to 10 cell stage, micropipette, genotype embryo, PCR, gel electrophoresis, parents can make an informed decision, selection for implantation in the woman’s uterus.

A

The steps required for pre-implantation embryo diagnosis

137
Q

One. The population has an infinite number of individuals. Two. Individuals mate at random. Three. No new mutations appear. Four. No migration into or out of the population. Five. Genotypes have no affect on ability to survive and transmit alleles to the next generation.

A

Hardy Weinberg assumptions

138
Q
  1. Lynn Margulis. 2. Mitochondria and chloroplasts have their own DNA which replicates independently of the cell cycle. 3. DNA is not organized into nucleosomes. 4. N-formyl methionine & tRNAfmet are used in translation. 5. Inhibitors of bacterial translation block mitochondria and chloroplasts translation. 6.Comparisons of ribosomal are any gene sequences suggest mitochondrial genomes derived from gram-negativeNonsulfur purple bacteria while chloroplasts come from cyanobacteria.
A

Endosymbiotic theory

139
Q

{A}a

A

Imprinting disease, disease expressed

140
Q

A{a}

A

Imprinting, not expressing the disease, carrier

141
Q

Prader Willi

A

Maternally imprinted, Gene is passed from father

142
Q

Angelman syndrome

A

Paternally imprinted, Gene passed down from mother

143
Q

p2 + 2pq + p2 = 1

A

Hardy Weinberg equilibrium

144
Q

p+ q = 1

A

Sum of allele frequencies

145
Q

q = square root of q2

A

Definition of q

146
Q

2pq

A

Carrier frequency

147
Q

Prader Willi

A

Maternally imprinted, Gene is passed from father

148
Q

Angelman syndrome

A

Paternally imprinted, Gene passed down from mother

149
Q

p2 + 2pq + p2 = 1

A

Hardy Weinberg equilibrium

150
Q

p+ q = 1

A

Sum of allele frequencies

151
Q

q = square root of q2

A

Definition of q

152
Q

2pq

A

Carrier frequency

153
Q

Love-faumeni syndrome

A

P 53- tumor suppressor gene

154
Q

Mitochondrial. maternally inherited

A

Heteroplasmic inheritance

155
Q

Caused by loss of function mutations in mitochondrial transfer RNA jeans. Affects the translation of all mitochondrial messenger RNA’s. Homoplasmic cells could not survive so all affected individuals are heteroplasmic. Severity of the phenotype depends on percentage of mutant mitochondrial DNA. Maternal inheritance. Not all children are affected. Affected to different degrees. Hi energy requirement tissues are less tolerant of the mutation.

A

Myoclonic epilepsy and ragged red fiber (merrf) disease

Genetics (14 decks)

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