Genetics Exam 1 Flashcards

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1
Q

mRNA is:

A

A molecule that carries the genetic information from DNA and is used as a template for protein synthesis

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2
Q

The sequence of one strand of DNA is 5’ -GCTTTAG- 3’ The sequence of the complementary strand would be:

A

5’-CTAAAGC-3’

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3
Q

A ___________ is defined as any difference in DNA, no matter how it is detected, whose pattern of transmission from generation to generation can be tracked

A

Genetic marker

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4
Q

DNA polymorphism is very common in the human genome

A

True

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5
Q

What does “true breeding” means in Mendelian genetics?

A

The individual is a homozygote

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6
Q

In a monohybrid cross of pea plants with round and wrinkled seeds, what is the genotypic ratio in the F2 generation? (please only put in genotypes and the ratio)

A

WW:Ww:ww = 1:2:1

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7
Q

In a monohybrid cross of pea plants with round and wrinkled seeds what is the phenotypic ratio in the F2 generation? (please only put in phenotypes and the ratio)

A

Round: Wrinkle = 3:1

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8
Q

The centromeres of sister chromatids uncouple and chromatids separate in which meiotic phase?

A

Anaphase II

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9
Q

The process of cell division that ensures that each of the two daughter cells receives a complement of chromosomes identical with the complement of the parent cell is known as:

A

Mitosis

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10
Q

We learned about using Chi-square test to measure goodness-of-fit. Which of the statements is False about the result of a chi-square test?

A

It tells us how likely we will get a certain outcome in an experiment that follows binomial distribution

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11
Q

The process of cell division that ensures that each of the two daughter cells receives a complement of chromosomes NOT identical with the complement of the parent cell is known as:

A

Meiosis

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12
Q

tRNA is:

A

A molecule that incorporates a specific amino acid into the growing protein when it recognizes a specific group of 3 bases

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13
Q

What is genetics?

A

the study of inherited traits

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14
Q

What is Genomics?

A

the study of all the genes in an organism

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15
Q

What are the elements of heredity?

A

genes

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16
Q

What are the 4 properties of the genetic material?

A
  1. can be replicated and transmitted
  2. control cellular processes and thues determibe phenotype
  3. can be sources of new variations
  4. contains info
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17
Q

What do chromosomes contain and where are they located?

A

DNA and proteins, are located in nucleus

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18
Q

What occurs to chromosomes during cell division?

A

Split into daughter cells

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19
Q

Are the number of chromosomes constant in all the cells of a species?

A

Yes

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20
Q

Is DNA or protein the genetic material?

A

DNA

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21
Q

What is the difference between R-cells and S-cells?

A

R cells do not result in disease in mice while S cells do due to their protective carb capusle

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22
Q

What is genetic transformation?

A

Genetic transformation is the change in DNA due to the introduction of new DNA that is later passed down

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23
Q

What is a model organism?

A

An organism that is easily used for genetic analysis

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24
Q

What is wild type?

A

the most common traits as it is naturally occurring in a particular species

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25
Q

What is mutant?

A

A form that is different from others of the same species

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26
Q

What is a mutation?

A

A change in DNA differing from the wild type DNA

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27
Q

What is forward mutagenisis screening?

A

Causing random mutations to occur through physical or chemical and then picking the desired phenotypes to do analysis on

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28
Q

What is a complete medium?

A

Contains various amino acids, vitamins, and other nutrients

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29
Q

What is a minimal medium?

A

Only the essential nutrients for growth

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30
Q

How are nutritional mutants identified via mediums?

A

Put suspected mutants into a complete medium and minimal medium to see if they can grow in both or only complete

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31
Q

How can you further identify mutants via specific mediums?

A

Put the mutants in specific minimal mediums with different nutrients to see which will allow it to grow

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32
Q

How do you know if they have the same gene affected?

A

complementation test

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33
Q

What is DNA?

A

deoxyribonucleic acid

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34
Q

If 2 mutants complements each other what is the phenotype

A

Wild type

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35
Q

If 2 mutants don’t complements each other what is the phenotype

A

Mutant

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36
Q

What is RNA

A

ribonucleic acid, tRNA, mRNa, rRNA

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37
Q

What is protein

A

made up of amino acids and carries out cellular proceesses

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38
Q

Which has a double helix?

A

DNA

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39
Q

What is a double helix made up of?

A

2 polynucleotide chains in opposite directions

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40
Q

What is a nucleotide made up of?

A

phosphate, sugar, base

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41
Q

How many different bases does DNA have?

A

4

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42
Q

What are the base pairs?

A

A-T G-C

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43
Q

What is Chargaff’s rule?

A

A=T, G=C
A+C= T+G

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44
Q

Are DNA antiparallel?

A

Yes

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45
Q

What are the properties of DNA?

A
  1. have complementary bases pairing
  2. each strand has a direction based on group on the end
  3. are antiparallel
  4. double helix
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46
Q

What is mRNA?

A

transcribes the DNA into RNA which can then be used to translate into amino acid

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47
Q

What is tRNA?

A

transfer rna, adds chunks of amino acids to polypeptide chain

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48
Q

What is rRNA?

A

ribosomal rna, component of ribosome where protein synthesis take place

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49
Q

What is transcription?

A

From DNA to RNA

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50
Q

What is translation

A

From RNA to polypeptides

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51
Q

Can protein be translated back to RNA or transcribe back to DNA

A

No

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52
Q

Flow of biological info in a cell

A

DNA is transcribed into rRNA, mRNA, and tRNA which is the consolidated into ribosome. RIbosome is the translated into protein

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53
Q

What is the key features of the central dogma

A

Transcription results in info transfer from DNA to RNA

Translation results in information flow from RNA to protein.

Information does not flow from protein to either DNA or RNA.

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54
Q

What is alleles

A

alt form of genes

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55
Q

What is locus

A

A physical position of a gene on a chromosome

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56
Q

What are homologous chromosomes

A

The pair of chromosomes that comr from mom and dad

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57
Q

What is Genotype

A

the genetic makeup of a indiivdual

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58
Q

What is phenotype

A

the physical traits/ biochemical exp resulting from their genetic makeup

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59
Q

What can cause diseases

A

Blocks in metabolic pathways

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60
Q

What is alkaptonuria

A

black urine disease

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61
Q

What did ealy geneticists’ believe

A

That there was one wildtype genotype and mutants were rare

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62
Q

What is polymorphic

A

Variances in alleles

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63
Q

What is the norm at genetic level

A

Variation

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64
Q

What is the most common type of human polymorphism

A

SNP single nucleotide polymorphism

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65
Q

What is a genetic marker?

A

A trackable difference in genes throughout generations

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66
Q

What is a DNA marker?

A

A trackable DNA difference in genes throughout generations

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67
Q

What is SNPs

A

Single sites where 2 or more nucleotide differs in a population with a frequency if more than 1%

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68
Q

How are SNPs detected

A

Through the use of restriction enzyme aka restruction fragment length polymorphism (RFLP)
OR
SNP chips

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69
Q

What are restriction enzymes

A

They are enzymes that cut DNA at a certain sequence of DNA and are isolated from bacteria

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70
Q

What are SNP chips

A

SNP use an DNA array to detect multiple SNPs

71
Q

What are tandem repeat polymorphism

A

They are when 2 or more bases repeat

72
Q

What is a simple sequence repeat (SSR) (3x)

A

aka microsatellite loci
abundant in the genome of eukaryotes
highly polymorphic

73
Q

What are CNVs (Copy-number variations)

A

larger tandem repeats (akb to 1Mb)
can be detected by DNA array

74
Q

What are the applications of DNA markers

A
  1. localization of genetic risk factor
  2. dna typing
75
Q

What is an example of DNA typing

A

fingerprinting

76
Q

How does DNA typing work?

A

There are 13 highly polymorphic gentic loci (SSR) –> other than identical twins, 2 inidivduals having the exact smae SSR loci is highly unlikely

77
Q

What is a wild-type in the lab

A

A convenient refrence strain of a species

78
Q

What is dominant

A

When you only need one of the allele for the phenotype to show

79
Q

What is recessive

A

When you need both alleles for the phenotype to show

80
Q

What is the molecular basis of wrinkled seed mutation

A

SBEI (starch branching enzyme gene)
Wildtype (round) is dominant
mutant (wrinkled) has an insertion of DNA into the SBEI gene that disrupts the shape

81
Q

What is outcrossing

A

When you breed a plant with another plant that has a differing trait

82
Q

What is hybird

A

the result of breeding a plant with another differing plant

83
Q

What is a true breed strain

A

is when a plant self pollinates and only produces progeny like itself

84
Q

What is a monohybrid cross

A

A cross of 2 true breeding strains with only 1 differing trait

85
Q

What is the F1 result of a monohybrid cross

A

hetreozygote progeny

86
Q

What is the result of F2 from a self fertilizing of F1 (progeny of monohybrid)

A

3:1 phenotype but 1:2:1 genotype

87
Q

What are the key features of single gene inheritance (4x)

A
  1. Genes come in pairs so each cell has 2 alleles
  2. each pair of genes, alleles may be different or same
  3. each gamete contains only 1 allele
  4. union of male and female gametes is randome and result in allele pairs
88
Q

What is testcross

A

Crossing a heterozygous organism to one with homozygous recessive alleles

89
Q

What is a backcross

A

Crossing a hybrid with one of its parents

90
Q

What is reciprocal cross

A

2 different ways of crosses depednign on which phenotype is on which sex

91
Q

What does a testcross result in

A

1:1 genotype and phenotype

92
Q

What is mendel’s first law

A

The principle of segregation

93
Q

What is the principle of segregation

A

The law states paired alleles will separate in that each gamete will have an equal chance of either allele

94
Q

What is the F1 result of a dihybrid cross of true breeding strain

A

Double heterozygote

95
Q

What is the result of F2 with F1 self fertilizing (dihybrid cross of true breeding strain)

A

9:3:3:1 phenotype 1:2:1:2:4:2:1:2:1 genotype

96
Q

What is Mendel’s second law

A

The principle of independent assortment

97
Q

What is the principle of independent assortment

A

Segregation of any single allele is independent of the separation of another allele

98
Q

Autosomal dominant allele characteristics (4x)

A
  1. not sex linked
  2. affected offsrping have a 1 affected parent
  3. affected parent could be mom or dad
  4. half of individuals that are siblings with affected parent are affected
99
Q

What does autosomal mean

A

Not sex linked

100
Q

Autosomal recessive allele characteristic (5x)

A
  1. not sex linked
  2. affected individuals usually have unaffected offspring
  3. most affect individual have unaffected parents
  4. parents of affected individuals are often relatives
  5. among siblings of affected individuals (about 25% are affected)
101
Q

Challeges of human genetics before molecular era (4x)

A
  1. disease causing alles are rare and occur in small %
  2. many simple mendelian diseases are recessive
  3. # of offspring are small in humans
  4. cant conduct testcrosses, backcrosses, or experimental crosses
102
Q

An example of Simple/not harmful mendelian trait

A

PTC bitterness

103
Q

PTC bittnerss dominant or recessive

A

dominant

104
Q

PTC variation

A

varies from 0.00amM to 10mM
can be influenced by gender, environment, and other genes

105
Q

Are most human genetic variations bad

A

no

106
Q

Most of human conditions are caused by combined effect of genes and environment

A

True

107
Q

What is incomplete dominance

A

in a heterozygote the phenotype does not remseble eitehr allele but somewhere in between

108
Q

What is the result of incomplete dominance yield for F2 of self fertilize F1 (monohybrid cross)

A

1:2:1 phenotype and genotype

109
Q

What are multiple allele

A
  1. genetic locus can take on multiple alleles
  2. common in natural pop
  3. polymorphic loci used in forensics
110
Q

How do multiple alleles come about

A
  1. by chance: mutations accumulate throughout time and spread through breeding
  2. certain mechanisms favor large # of alleles (self incompatibility)
111
Q

What is self incompatilibity

A

When the favor different alleles than the same alleles

112
Q

What are blood type determined by?

A

Polysaccharide on the surface of the blood cell

113
Q

Different genotypes make different types of polysaccharide

A

True

114
Q

What is epistasis

A

Non independent assortment of genes

115
Q

What is germ cell

A

Reproductive cells ie sperm or egg

116
Q

What is somatic cells

A

Nonreproductive cells

117
Q

How many chromosomes does somatic cells have

A

46 (diploid) fixed number

118
Q

How many chromosomes does gamete cells have

A

23 (haploid)

119
Q

What is mitosis

A

daughter cells are identical to parent

120
Q

What is meiosis

A

daughter cells are different from parent

121
Q

What is interphase

A

G1, S, G2

122
Q

What is G1

A

preparing DNA for replication

123
Q

What is S

A

DNA replication

124
Q

What is G2

A

DNA damage repair

125
Q

When does the amount of DNA doubles

A

G2

126
Q

Entering Mitosis (5x)

A
  1. DNA has been replicated
  2. Centromeres have not
  3. Each chromosome has 2 sister chromatids
  4. Sister chromatids after replication, 2 associated units of org chromosome
  5. 2 sister chromatid held by 1 centromere = 1 chromosome
127
Q

What are sister chromatids

A

Connected by centromere is the replicated portion of allele

128
Q

What are the 4 stages of mitosis

A
  1. prophase
  2. metaphase
  3. anaphase
  4. telophase
129
Q

What is prophase

A

chromosome condense

130
Q

What is metaphase

A

chromosome align on the metaphase plate (equator)

131
Q

What is anaphase

A

Sister chromatids separate

132
Q

What is telophase

A

daughter chromosomes arrive at poles and nuclear envelop forms

133
Q

What are the challenges of meiosis (3x)

A
  1. need to go from diploid to haploid
  2. DNA replication occurs once
  3. following 2 divisions (chromosome # havlved)
134
Q

What are homologous chromosomes

A

cells other than gametes contain 2 sets of chromosomes, 1 from father and 1 from mother

135
Q

What is prophase 1

A

chromosomes pairing and condensation; crossing over (recombinatiom)

136
Q

What is metaphase 1

A

homologous chromosomes align

137
Q

What is anaphase 1

A

homologous chromosomes separate

138
Q

what is metaphase 2

A

chromosomes align

139
Q

what is anaphase 2

A

sister chromatids separate

140
Q

what is nonjuctions

A

errors during meiosis when chromosomes fail to separate during anaphase (1 or 2)

141
Q

what is an example of sex linked inheritance

A

Drosophila (fruit flies) eye pigment

142
Q

How can you tell if a gene is linked to sex

A

reciprocal crosses does not give same results

143
Q

what occurs if a gene is x linked (3x)

A
  1. het females transmit x linked to half of their offspring
  2. males with recessive x linked allele would exhibit the trait
  3. males transmit the allele to all daughters and non sons
144
Q

characteristics of human x linked pedigree (2x)

A
  1. for rare traits, affected individuals are usually male
  2. affected males have normal non carrier sons but carrier daughters
145
Q

what is elementary outcomes

A

possible outcomes of an experiment that can not be reduced any further

146
Q

what is an event

A

a combo of elementary outcomes

147
Q

what is probability

A

a value proportional to the likelihood an event occurs (between 0-1, and equals to 1 when all combined)

148
Q

When does P(AB) = P(A) * P(B)

A

when A and B are independent

149
Q

What is conditional probability

A

when the probability of an event affects the probability of another event

150
Q

what is binomial distribution

A

2 different outcomes, each independent from the other

151
Q

What is the testing goodness of fit

A

a test about how closely the observed results “fit” with expected results based on hypothesis (aka chi square test)

152
Q

what is the chi-square test

A

(observed-expected)^2 / expected

153
Q

What P values rejects the hypothesis

A

less than .05 or .01

154
Q

What is linkage

A

when genes are transmitted together

155
Q

What is recombination

A

an exchange event (crossover) between homologous chromosomes results in new combo of alleles be transmitted

156
Q

What is the max frequency of recombination

A

less than 50%

157
Q

What is trans configuration

A

when mutations are on separate alleles

158
Q

What is cis configurations

A

when mutations are on the same chromosomes

159
Q

Recombination frequency is the same whether the alleles are in cis or
in trans

A

True

160
Q

1 map unit = 1 percent of recombination = 1 map distance (1
centimorgan, cM) = 2 percent of crossovers

A

True

161
Q

Additional facts about recombination (2x)

A
  1. results from physical exchange between chromosomes
  2. take places during the four strand stage of meiosis
162
Q

The greater the physical distances between two markers, the more
likely a crossover takes place between them

A

True

163
Q

Crossover is much less frequent in some regions of the chromosome

A

True

164
Q

What is heterochromatin

A

the region of chromosome with a dense, compact structure during interphase

165
Q

What is euchromatin

A

the rest of chromosome, which is only visible after chromosome condensation during mitosis and meiosis

166
Q

Where is heterochromatin located in more organism

A

near centromere, or small blocks near ends, or interspersed with euchromatin

167
Q

challenges in mapping human genes (4x)

A
  1. matings cannot be arranged
  2. configurations of genes cannot be easily determined
  3. progeny numbers are small
  4. generation times are long
168
Q

What are the 2 methods in mapping human genes

A
  1. Inferring linkage in pedigrees
  2. Association mapping
169
Q

What is inferring linkage in pedigrees

A

determining whether a gene is linked with RFLP or SSRP marker using family pedigrees

170
Q

What is association mapping

A

searching for evidence of associations between alleles of genes and alleles of markers

171
Q

What is allele of genes

A

disease genes that contribute to a phenotype

172
Q

What is allele of markers

A

SNPs

173
Q

What are the complications of inferring linkage in pedigree (3x)

A
  1. the configuration of genes and markers
  2. incomplete penetrance
  3. environmental factors
174
Q

Inferring linkage in pedigree requires pedigree data from more than a few families

A

True