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Test 2 Flashcards

1
Q

Linked genes

A

genes located on the same chromosome

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2
Q

What stage during crossing over occur?

A

prophase I

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3
Q

Complete linkage

A

there is no CROSSING OVER, only 2 gamete types are made

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4
Q

Coupling vs. Repulsion

A

coupling phase=cis

  • parental types Ab and ab (AB/ab)
  • recombinant types: Ab and aB

Repulsion phase=trans

  • parent types Ab and aB
  • Recombinant types AB and ab
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5
Q

Map distance

A

is numerically equal to the percentage of recombination(crossing over) between the loci

ex: 1% recombination= 1 Centimorgan

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6
Q

NCO and DCO

A 
NCO= biggest number
DCO= smallest number
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7
Q

Coefficient of Coincidence formula

A

(Observed DCO)/(expected # DCO)

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8
Q

Crossover for R1 (just that, nothing happens in R2)

A

(.5)(R1)

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9
Q

Crossover for R2 (just that, nothing happens in R1)

A

(.5)(R2)

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10
Q

No cross in R2 (nothing happens in R1)

A

(.5)(1-R2)

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11
Q

DCO

A

(.5)(R1)(R2)(C)

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12
Q

NCO

A

(.5)(1-R1-R2+DCO)

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13
Q

Crossover in R1

A

(.5)(R1-DCO)

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14
Q

Crossover in R2

A

(.5)(R2-DCO)

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15
Q

Neurospora

A

?

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16
Q

Mapping distance between the gene and centromere of a Neurospora

A

(.5)(#second division asci/total)(100)

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17
Q

1st and 2nd division segregation patter of neurospora

A

1st division: AAAAaaaa
-no cross over between gene and centromere
2nd Division: AAaaAAaa, aaAAaaAA, aaAAAAaa, AAaaaaAA
-crossover between genes and centromere

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18
Q

Lod Scores

A

(logarithm of odds)

  • scores are used to determine whether or not two genes are linked based on pedigrees
  • Lod score is the logarithm of the ratio of the probability of observing the progeny if the genes are linked to the probability the progeny if the genes are not linked.
  • If lod score is greater than or equal to 3, the genes are linked/
  • less than the they assort indepedantly
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19
Q

Genome Wide Association studies (GWAS)

A

form of mapping

  • looks for associations between a trait and various markers scattered across the genome
  • studies populations of individuals not pedigrees of a particular family
  • indentify haplotypes that are associated with a particular trait
  • many of these markers are molecular markers called SNPs( Single nucleotide polymorphism)
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20
Q

What are the molecular molecules called in GWAS

A

SNPs- single nucleotide Polymorphisms

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21
Q

Somatic Cell hybridization: Synteny Testing

A

Use SENDAI VIRUS to fuse mouse and human cells. After several mitotic divisions, human chromosomes are randomly lost producing several synkaryon lines

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22
Q

Heterokaryon

A

cell has two nuclei (one from each source)

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23
Q

What are the advantages of using bacteria and viruses for genetic studies?

A
  • reproduction is rapid
  • many progeny are produced
  • haploid genome allows all mutations to be expressed directly
  • asexual reproduction simplifies the isolation of genetically pure strains
  • Growth in the laboratory is easy and requires little space.
  • Genomes are small
  • Techniques are available for isolating and manipulating their genes
  • They have medical importance
  • They can be genetically engineered to produce substance of commercial valu
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24
Q

What are the advantages of E. Coli as a model organism

A
  • small size
  • rapid reproduction, dividing every 20 ins under optimal conditions
  • easy to culture in liquid medium or on petri plates
  • small genome
  • many mutants available
  • numerous methods availabe for genetic engineering
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25
Q

Taxonomy of E. Coli

A

Eubacteria

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26
Q

Size of E. Coli

A

1-2um in length

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27
Q

Anatomy of E. Coli

A

Single cell surrounded by cell wall with nucleoid region

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28
Q

habitat of e. Coli

A

intestinal tract of warm-blooded animals

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29
Q

What are the contributions to genetics from E. Coli

A
  • gene regulation
  • molecular biology and biochemistry of genetic processes, such as replication. transcription, translation, recombination
  • gene structure and organization in bacteria
  • workhorse of recombinant DNA
  • Gene mutations
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30
Q

Prototroph

A

mutant bacteriacan grow on minimal media

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31
Q

Auxotroph

A

mutant bacteria Require additional nutrients

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32
Q

Mal

A

maltose

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33
Q

lac

A

lactose

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34
Q

gal

A

galactose

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35
Q

xyl

A

xylose

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36
Q

ara

A

arabinose

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37
Q

what are “ose” words

A

carbon source

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38
Q

Antibiotic resistance:

str, amp, tet

A

streptomycin
ampicillin
tetracycline

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39
Q

Phage resistance: S, R, Ton

A

S=sensitive so won’t live if agent present
R=resistant so will live in presence of agent
Ton=T1 bacteriaphage

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40
Q

Nutrients: +,-, Pro, met, thi, bio

A

+ =strain can make its own
- = strain cannot synthesize this, so it will not grow unless this is added to the media

pro-proline
met-methionin
thi-thiamin
bio-biotin

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41
Q

Conjugation

A

temporary fusion of 2 single-cell organisms for the sexual exchange of genetic material

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42
Q

Mechanism for Conjugation

A

2 cell types: F+ and F-
F+ contain an episome called the F factor and is the donor cell

F- is the recipient cell

F+ has extensions called pili that contact F-

A conjugation tube is formed to connect the cells

The F factor is nicked and begins to transfer 1 strand to the F- cell

DNA replication occurs so that both cells end up with a double stranded F factor

The cells break apart

Exconjugants are both F+

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43
Q

Hfr

A

High frequency Recombination
-these cells transfer genes from bacterial chromosomes at high frequency due to an integrated F Factor. Crossing over between the F factor and the bacterial chromosome in an F+ cell results in an Hfr cell.

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44
Q

Mechanism of interrupted mating

A

HfrxF-

  • Part of the f factor leads the way into the F- cell (5’ end leading)
  • The transferred strand is replicated
  • Cell separate prior to transfer of entire bacterial chromosome
  • Recombination occurs between newly transferred DNA and original bacterial chromosome in the recipient cell
  • This can lead to a genetic change in the recipient cell, but the recipient cell will not be an F+ or an Hfr strain
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45
Q

When the F factor can “pop out” of the bacterial chromosome what does it produce?

A

F’ cell

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46
Q

what is the the product of the F’ cell and F- cell called?

A

F’ merozygote

-partial diploid

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47
Q

what does Hfr x F- result in

A

one Hfr cell and one cell that MAY HAVE ALTERED BACTERIAL CHROMOSOME GENES, but will almost never become an F+

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48
Q

what does F’ x F result in

A

in one F’ cell and one F’ merozygote, which is diploid for the transferred bacterial chromosome genes

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49
Q

Transformation

A

Exogenous DNA transfers genes to competent bacterial cell and brings about heritable change in the cell

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50
Q

Competent Cell

A

cell is in proper state to take in DNA

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51
Q

Heteroduplex DNA

A

different alleles on the 2 strands

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52
Q

GENES THAT ARE CLOSE TOGETHER WILL BE CONTRANSFORMED MORE frequently than genes that are far apart

A

…

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53
Q

Lytic cycle

A

phage infects, takes over, replicates, and lyses cell

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54
Q

Plaques

A

seen on lawn of bacteria when lysis occurs

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55
Q

Life cycle of a Temperate Phage

A

-a temperate phage can be either lytic or lysogenic

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56
Q

Prophage

A

when the phage is integrated into the bacterial chromosomes

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57
Q

Lysogenic

A

bacteria containing a prophage

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58
Q

Where do phages produce plaques on the bacterial lawn?

A

where cells are lysed

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59
Q

Transduction

A

viral mediated gene transfer

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60
Q

Generalized Transduction

A
  • During phage replication, the host DNA is degraded into pieces
  • The transducer genres can incorporate into the new host cell through recombination similar to the transformation mechanism
  • This results in RANDOM gene transfer

-USEFUL IN MAPPING SINCE 2 Genes co-transduce, they are probably close together on the bacterial chromsoms

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61
Q

Specialized transduction

A
  • Prophage posts out of bacterial chromosome and take one or a few genes with it. The progeny virus particles transfer these genes when they infect other cells
  • NOT useful in mapping the bacterial chromosomes since only genes near the site of integration are transduced
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62
Q

Is cell contact required in Transformation?

A

NO

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63
Q

is cell contact required in Conjugation?

A

YES

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64
Q

is cell contact required in Transduction?

A

NO

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65
Q

Is transformation sensitive to DNase?

A

yes

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66
Q

is conjugation sensitive to DNase

A

NO

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67
Q

is transduction sensitive to DNase

A

NO

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68
Q

What is it called when two mutations are on the same chromosome of a heterozygous individual?

A

CIS

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69
Q

What is it called when two mutations are on two different chromosomes of a heterozygous individual?

A

TRANS

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70
Q

What is it called when the two mutation can be in the same gene?

71
Q

What is it called when the two mutations are in different genes

A

nonalleles

72
Q

Complementation

A

production of a wild-type (normal) phenotype when two mutant types are combined in the trans configuration

73
Q

Ciastron

A

region of dNA in which two mutations cannot complement each other in TRANS configuration

74
Q

Population Genetics

A

Study of inherited variation within and between populations over time and space

75
Q

Gene frequency

A

allele frequency

76
Q

Population

A

local group of a species among which mating can occur

77
Q

Hardy-Weinberg Law

A

Allele and genotypic frequencies will arrive at and remain at equilibrium frequencies after one generation of random mating if all assumptions below are met.

p^2AA + 2pq+ q^2aa
p and q are the frequencies of the allele

78
Q

Degrees of freedom

A

number of genotypes - # of alleles

79
Q

Genetic conclusion

80
Q

Mutation

A

an important source of variability

-origin of new alleles

81
Q

Mutation Formula

82
Q

Gene frequency changes from mutation are____.

83
Q

Migration

A

change in gene frequency depend on migration rate and on the frequency of the immigrants

84
Q

formula for migration

A

p’=(1-m)p + mP

p’=Frequency of A allele after migration
p=frequency of A allele on island initially
m=proportion of migrants after immigration occurred probability that a parent will come from the mainland
P=average allele frequency of the donor popoulation

85
Q

Directional selection

A
  • favors one extreme or the other

- population mean increases or decreases depending on which extreme is favored

86
Q

Stabilizing Selection

A
  • heterozygote is favored
  • decreases variance
  • leads to polymorphisms (both alleles remain in population)
87
Q

Disruptive selection

A
  • advantage for both extremes

- leads toward bimodal population

88
Q

Viability selection

A

some individuals are more likely to survive to reproduction than others

89
Q

Assortive mating

A

mate based on phenotype

90
Q

Two different types of assortative mating

A

positive- mating like individuals together, results in similar situations as inbreeding, BUT ONLY FOR LOCI UNDER SELECTION

negative- opposites attract would keep diversity in the population and tends to increase the frequency of heterozygous individuals FOR THE LOCI UNDER SELECTION

91
Q

inbreeding

A

mating of related individuals changes frequency of genotypes, but not allele frequency leads to more homozygous individuals in population over time. AFFECTS ALL LOCI IN THE ORGANISM

92
Q

Non-random matting changes frequency of _____ but not _____ frequency.

A

genotye, allele

  • increases frequencies of both homozygous genotypes
  • decreases frequency of heterozygote
  • Eventually everyone in the population will be homozygous and the genotypic array will be pAA + qaa
93
Q

Inbreeding formula

A

(p^2 + Fpq)AA + 2(1-F)pq Aa + (q^2 + Fpq)aa

94
Q

What are the effects of small population size

A

Random Drift/Genetic Drift- random loss and fixation of alleles

Inbreeding: mating between relatives (consanguinity) is more likely in a small population resulting in inbreeding

95
Q

Genetic drift

A

random variation in gene frequency form generation to generation due to small population size and sampling error
-leads to random fixation or loss of alleles over time

96
Q

Founder Population

A

small population that colonies a new area
-have small size and likely to undergo genetic drift
-allele frequencies in the founder population may differ from those in the original population
-selection pressures on found population will probably be different from those on original population since they are in a different environment.
(often this is a harsher environment causing more selection pressure and a more rapid change due to selection)

97
Q

What increases genetic variation within populations?

A

mutation
migration
some types of natural selection

98
Q

What decreases variation within population?

A

Genetic drift

Some types of natural selection

99
Q

What increases genetic variation between populations?

A

mutation
genetic drift
Some types of natural selection

100
Q

What decreases genetic variation between populations?

A

migration

some types of natural selection

101
Q

Deletion

A

missing part of a chromosome

102
Q

What disease is an example of a deletion

A

Cri Du Chat-missing part of short arm of chromosome number 5

103
Q

Terminal deletion

A

produces acentric fragment is lost during cell division

104
Q

Interstitial Deletion

A

Requires two breaks

105
Q

Effects of Deletion

A

segments that do not contain a centromere are lost (acentric fragments are lost)

  • deletions may cause an imbalance in the amount of gene products produced (Haploinsufficiency)
  • deletion of normal allele on one chromosome may allow the recessive allele on the homolog too be visible causing mutant phenotype (pseudo dominance)
106
Q

Haploinsufficiency

A

single copy of gene is not enough to allow the wild-type phenotype to occur

107
Q

Pseudodominance

A

expression of normally recessive phenotype because there is no homologous allele due to a deletion (loss of big A allele in heterozygote)

108
Q

Duplication

A

extra copy of part of the chromosome

109
Q

Tandem dupliction

A

the duplicated sequence is back-to-back to normal duplicated part

ABCDEFDEFG

110
Q

Reverse Tandem

A

the duplicated sequence is the reverse order back-to-back of the normal duplicated part

ABCDEFFEDG

111
Q

Displaced duplication (homobrachial)

A

also called homobrachial
-duplicated section is located at the end of sequence
AB.CDEFGDEF

112
Q

Displaced Duplication (heterobrachial)

A

duplicated seeunce is located at the beginning

DEFABCDEFG

113
Q

Unbalanced Gene Dosage

A

Bar eye in Drosophila Melanogaster
-importance is the position effects on phenotype of the BAR

LOOK IN NOTES

114
Q

SUSUMU OHNO (theory, ex)

A

-duplication is essential to origin of new genes in a species

THEORY:

  • unique genes are essential to survival and therefore cannot accumulate mutations
  • Duplicated copy is “extra” and can accumulate mutations and may even develop a different function over time
  • EX:similarites in sequence but not function
  • myoglobin and hemoglobin
  • hemoglobin and parts of immunoglobin
  • trypsin and chymotrypson
115
Q

Inversion

A

segment of chromosome is removed, turned 180 degrees and reinserted into chromosome

116
Q

Paracentric Inversion

A
  • Inverted area does not include centromere
  • does not change arm ratio of chromosome

AbcdE.FGH
AdcbE.FGH

117
Q

Pericentric inversion

A
  • inverted are does include centromere
  • can alter arm ratio

ABCde.fGH
ABCf.edGH

118
Q

Dicentric bridges

A

are common in anaphase I when a crossover in a PARACENTRIC inversion loop

119
Q

Inversion characteristics

A

suppress crossing over

  • actually, crossing over occurs within inversion loop, but recombinant products are often inviable
  • duplications and deletions result when crossing over occurs in inversion loops
120
Q

Two-stranded Double Crossover

A

-no dicentric bridges, but gametes have duplications and deletions that can result in reduced viability

121
Q

What is the EVOLUTIONARY significance of INVERSIONS

A
  • often see related species with differences between their chromosomes that appear to be due to inversion
  • the fact that crossover types are often inviable may lead to divergence between individuals of different inverted sequence
  • presence of inversions tends to preserve a gene sequence along length of chromosomes that is more favorable
  • Different inverted forms may be favored in different enviroments
122
Q

Reciprocal Translocations

A

two non homologous chromosomes exchange arms (or parts of arms) (NO GAIN OR LOSS OF DNA)

123
Q

NON-reciprocal translocations

A

a segment from one chromosome is moved to a nonhomologus chromosome (no overall gain or loss of DNA)

-part of one chromosome is moved to a non-homologous chromosome

AB.CDEFG AB.CFG
JK.LM JK.LDEM

124
Q

Robertsonian Translocations

A
  • two telocentric/nearly telocentric chromosomes combine to make one larger, more metacentric chromosome (lose a bit of DNA, usually not noticeable)
  • isochromosomes- two chromosomes joined are homologs

-LARGER PIECES FUSE TOGETHER

125
Q

Isochromosomes

A
  • compound chromosomes
  • two homologous chromosomes join to form 1 chromosome. The two tend to stay together if there is only one centromere so twice as much of that chromosomes genetic information is transmitted to a gamete
126
Q

Familial Down syndrome

A

can be due to either robertsonian translocation or isochromosomes

  • robert-joining between chromosomes 14 and 21
  • isos- if two chromosome 21 join together
  • the individual has 46 chromosomes, but still has 3 copies of the information from chromosome 21
  • the parent with the robertsonian translocstion has only 45 chromosomes and is normally phenotypically (NO DOWN SYNDROM) and has 2 copies of chromosome 21 info
127
Q

Burkitt’s Lymphoma

A

abnormal function of B cells (normally B cells secrete antibodies)

  • reciprical translocation between chromosomes 8 and 14 places c-myc (oncogene) next to enhancer which normally stimulates production of immunoglobulin
  • position effect- same genes are present, but chromosomal location alters the phenotype
128
Q

assumptions for Hardy-weinburg law

A 
Infinitely large population
random mating (panmictic)
no selection
no migraton
no mutation
129
Q

Aneuploidy

A

number of chromosome in an interphase somatic cell is not exact multiple of the haploid number

EX; humans are 2n=46 so haploid number is 23

130
Q

Monosomic

A

XX22334

on less of a chromosome

131
Q

Nullisomic

A

XX2233 no copies of one number

D

132
Q

Double Monosomic

A

XX2234 missing one copy of two numbers

133
Q

Trisomic

A

XX2233444 three copies of one number

134
Q

tetrasomic

A

XX22334444 four copies of one number

135
Q

Double Trisomic

A

XX22333444 three copies of two numbers

136
Q

Down syndrome

A

Trisomy 21

137
Q

Nondisjuction

A

can result in aneuploid progeny

-happens in anaphase I and II

138
Q

What are some human Aneuploid conditions

A

Klinefelter syndrome (47,XXY)-male

Down Syndrome (47, 21+)

Turner syndrom (45,XO) mixing sex chromosome

Edward syndrom (47,18+)

Human Female (47,XXX)

Patau Syndrom (47, 13+)

139
Q

Uniparental Disomy

A

a pair of chromosomes comes from the same parent

140
Q

What is the effects of uniparental disomy

A

could get 2 copies of a recessive allele from 1 parent and nothing from the other so child shows recessive trait even when 1 parent is not carrier

141
Q

What is the suspected origin of uniparental disomy

A

thought hat probably arise through a trisomic condition where one of the try is lost early in development thereby resulting in a child with normal 46 chromosomes.

142
Q

Mosaicism

A
  • different cells within the same person have different numbers of chromosomes
  • Could be due to nondisjuction in mitosis of somatic cell with subsequent mitotic divisions of abnormal cells also resulting in cells with abnormal number
143
Q

Polyploidy

A

more than 2 copies of haploid genome

144
Q

Autopolyploidy

A

extra sets of chromosomes are identical to normal chromosome set (ALL SETS ARE FROM THE SAME SPECIES)

  • tend to be sterile
145
Q

Allopolyploidy

A

combination of sets of chromosomes from 2 species

-fertile as long as even number

146
Q

Nondisjunction in anaphase of mitosis can result in?

A

doubling of chromosome number

147
Q

Nondisjunction or all chromosomes in meiosis can result in?

A

gametes with extra sets of chromosomes

148
Q

monoploids

A
  • synthetic haploids
  • produced through another culture to result in monoploid plant
  • used to see genotype (no hidden recessives)
  • can assay for a desirable trait
149
Q

Colchicine

A
  • used to double the chromosome number to obtain diploid plant that is homozygous for desired trait. can be used in breeding program
  • is a spindle fiber poison. Treatment with colchicine prevents spindles from pulling chromatids to opposite poles in anaphase
150
Q

Bivalent

A

2 chromosomes synapse together

151
Q

Triploids

A

sterility problems due to irregular pairing/synapsis of meiosis.

-seedless fruits such as some bananas, winesap apples, european pears, seedless watermelons

AAA or AAB

152
Q

amphidiploid

A

polyploid that behaves like a diploid in meiosis (2 different species are combined)

-most common form of polyploidy in plants

153
Q

Potato

A

Autopolyploid

4n=48

154
Q

banana

A

autopolyploid

3n=33

155
Q

Peanut

A

allopolyploid

4n=40

156
Q

Sweet Potato

A

autopolyploid

-6n=90

157
Q

Tobacco

A

Allopolyploid

4n=48

158
Q

Cotton

A

Allopolyploid

4n=52

159
Q

Wheat

A

allopolyploid

6n=42

160
Q

Oats

A

allopolyploid

6n=42

161
Q

Sugar cane

A

allopolyploid

8n=80

162
Q

Strawberry

A

allopolyploid

8n=56

163
Q

hypothesis for chi square

A

The population of____ has Hardy-weinburg proportions for the ____locus

164
Q

Compensation loops

A

are seem at synapses in individuals heterozygotes for interstitial deletions and for individuals who are heterozygous for tandem and reverse tandem deletions

165
Q

Fertilization of a gamete with abnormal chromosome number due to nondisjunction results in?

A

aneuploidy individuals

166
Q

Plasmids

A

small circular DNA molecules that are found in bacteria and can replicate independently of the bacterial chromosome

167
Q

Episomes

A

are a type of plasmid that can integrate into the bacterial chromosome

168
Q

F factor

A

confers the ability to conjugate and has genes that allow formation of pili, which establish contact between cells

169
Q

Do F+ and F’ have the F factor? and in what FOrm? and who do they donate to?

A

yes, circularized form

F-

170
Q

Hfr

A

have the F factor incorporated into the bacterial chromosome. conjugation between these cells and F- cells often results in transfer of bacterial chromosome genes to the recipient cell

171
Q

Virulent bacteriophages

A

cause lysis of a bacterial cell but cannot integrate into the bacterial chromosome

172
Q

Temperate

A

bacteriophages may lysogenize a cell by incorporating their DNA into bacterial chromosomes

173
Q

Prophage

A

the integrated DNA

GN 311 (17 decks)

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