chapter 8-genetics Flashcards

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1
Q

define genetics

A

the study of how traits are inherited from one generation to the next

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2
Q

define an allele

A

more than one alternative form of a gene

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3
Q

define a genotype

A

genetic makeup of an individual

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4
Q

define a phenotype

A

the physical manifestation of the genetic makeup

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5
Q

what are the 4 principles of inheritance Mendel populated

A

1) genes exist in alternative forms ( alleles). A gene controls a specific trait in an organism
2) an organism has 2 alleles for each inherited trait, one from each parent
3) the 2 alleles segregate during meiosis resulting in gametes that carry only one allele for any given inherited trait
4) if 2 alleles in an indivudal organisms are different only one will be fully expressed and the other will be silent

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6
Q

what is a homozygous trait

A

2 copies of the same allele

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7
Q

what is a heterozygous trait

A

2 different alleles

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8
Q

what is Mendels law of Dominance

A

the dominant allele is expressed in the phenotype

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9
Q

what is a monohybrid cross

A

only one trait is being studied

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10
Q

what is the progeny of the P generation

A

filial ( F generation)

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11
Q

what is a testcross

A

a diagnostic tool used to determine the genotype of an organisms

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12
Q

with only what type of phenotype can a genotype be predicted with 100% accuracy

A

recessive

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13
Q

Mendels second law: law of independent assortment

A

the inheritance of one trait is completely independent of any other

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14
Q

when can the law of independent assortment be used

A

can be used to explain inheritance only for monohybrid a dihybrid crosses in which parent differ in 2 traits as long as the genes are on separate chromosomes and assort independently during meiosis

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15
Q

typical pattern of mendelian inheritance in a dihybrid cross between heterozygotes with independently assorting traits

A

9:3:3:1

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16
Q

why are drosophila a model organism for genetics

A

large number of offspring and short generation time

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17
Q

what is incomplete dominance

A

some progeny phenotypes are apparently blends of the parental phenotypes

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18
Q

what is codominance

A

multiple alleles exist for a given gene and more than one of them is dominant
- each dominant allele is fully dominant when combined with a recessive allele but when 2 dominant alleles are present the phenotype is the result of the expression of both dominant alleles simultaneously

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19
Q

what are autosomes

A

pair of regular non sex chromosomes

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20
Q

how many autosomes do we have

A

22 chromosomes

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21
Q

who determines the sex of a baby

A

a male bc his gametes are either X or Y and female is just X

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22
Q

true or false sex chromosomes pair during meiosis and segregate during first meitotic division

A

true

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23
Q

what are sex linked genes

A

genes located on the X and Y chromosomes

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24
Q

X or Y chromosome carry most of the sex-linked genes and why?

A

X bc of its size

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25
Q

why are recessive phenotypes are more frequently found in me

A

when a recessive gene is found on a X chromosome men will produce it bc there is no dominant

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26
Q

what is an example of sex-linked recessives in humans

A

goes for hemophilia and colour-blindness

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27
Q

what produces a phenotype ( 2 things)

A

interactions between the environment and genotype

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28
Q

what is cytoplasmic inheritance + an example

A

heredity system exist outside the nucleus

-ex. DNA is found in mitochondria and other cytoplasmic bodies

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29
Q

what is nondisjunction

A

failure of homologous chromosomes to separate properly during meiosis I or the failure of sister chromatids to separate properly during meiosis II

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30
Q

what is trisomy

+ example

A
  • 3 copies ( somatic cells will have 2N +1 chromosomes)
  • nondisjunction
  • down syndrome caused by trisomy of chromosome 21
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31
Q

what is monosomy

+ example

A
  • single copy of that chromosome ( somatic cells will have 2N-1 chromosomes)
  • nondisjunction
    turner syndrome: only viable monosomy
    -monosomy of the sex chromosome resulting in the genotype XO
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32
Q

if a chromosome has a deficiency what does that mean

A

the chromosome that loses a fragment

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33
Q

how does chromosomal breakage occur

A

may occur spontaneously or be induced by environmental factors such as mutagenic agents and X rays

34
Q

what is a mutation

A

are changes in the genetic information coded in the DNA of a cell
genetic error with the wrong base or a missing base in the DNA at any particular position

35
Q

mutations in somatic cells can lead to ___

A

tumors

36
Q

ex of mutagenic agents

A

cosmic rays, X-rays, ultraviolet rays and radioactivity, chemical cpds, carcinogenic

37
Q

what happens with a N base is added deleted or substituted

A

when any of these occur inappropriate amino acids may be inserted into polypeptide chains and a mutated protein may be produced

38
Q

what is a point mutation

A

a nucleic acid is replicated by another nucleic acid

- there are 3 possible effects on a codon bc they generally invole 1-3 nucleotides

39
Q

describe silent mutation

A

the new codon may code for the same amino acid

40
Q

describe missense mutation

A

the new codon may code for a different amino acid this may or may not lead to a problem with th resulting protein depending on the role of the amino acid in determining the protein structure

41
Q

describe nonsense mutation

A

a new codon may be a stop codon which are often lethal or severely inhibit the functioning of the protein which can lead to many different problems depending on the role of the protein in organisms function

42
Q

wha tis frameshift mutation

A

nucleic acids are deleted or inserted into the genome sequence

  • this frequenly is lethal
  • the length of the genome changes
43
Q

what is sickle cell anemia and how is it caused

A

sickle cell anemia: a disease (genetic disorder) in which RBC become crescent shaped bc they contain deficient hemoglobin which carries less O2
-single base pair substitution for valine to glutamic acid

44
Q

where is bacterial chromosome located

A

nucleoid region of the cell

45
Q

what is plasmid

A

smaller than the single chromosome (bacterial genome) circular rings of DNA which contain accessory pigment

46
Q

what are episomes

A

plasmids that are capable of integration into bacterial genome

47
Q

where does replication begin for bacteria

A

at a unique origin of replication

48
Q

what direction does replication occur

A

in both directions simultaneously

49
Q

does DNA get synthesized in the 5’ to 3’ or 3’ to 5’

A

in the 5’ to 3’

50
Q

how do bacteria reproduce

A

binary fission

51
Q

how do bacteria increase their variance

A

transformation, conjugation, transduction

52
Q

what is transformation

A

the process by which a foreign chromosome fragment (plasmid) is incorporated into the bacterial chromosome via recombination creating new inheritable genetic combination

53
Q

what is conjugation and how does it work

A
  • the transfer of genetic material between 2 bacteria that are temporarily joining
  • a cytoplasmic conjugation bridge is formed between the two cells and genetic material is transferred from the donor mal (+) to the recipient female
54
Q

bacteria must contain what ignorer to undergo conjugation

A

plasmids called sex factors are capable of conjugation

55
Q

what is Hfr

A

High frequency of recombination

  • the sex factor becomes integrated into the bacterial genome
  • During conjugation the entire bacterial chromosome replicates and begins to move from the donor into the recipient
  • Conjugation bridge usually breaks before the entire chromosome is transferred but the bacterial genes that enter the recipient can easily recombine with the genes already present to form novel genetic combination
56
Q

what is a bacteriophage

A

virus that infects its host bacterium

57
Q

what is transduction

A

Transduction: the a bacteriophage infects its host bacterium by attaching to the bacterium, boring a hole through bacteria cell wall and injecting its viral DNA while its protein coat remains attached to the cell wall
-Occurs when fragments of the bacterial chromosome become packaged into the viral progeny produced during such a viral infection

58
Q

do chances of transduction increase or decrease as the 2 genes distance on a chromosome decreases

A

increases

59
Q

recombination

A

occurs when liked genes are separated
-It occurs by breakage and rearrangement of adjacent regions of DNA when organisms carrying different genes or alleles for the same traits are crossed

60
Q

what does an operon consist of

A

structural genes, an operator region and a promotor region on the DNA before the protein coding genes of DNA that code for proteins

61
Q

what is regulation of transcription based on

A

accessibility of RNA polymerase to the gene being transcribed and directed by an operon

62
Q

regulation of what enables prokaryotes to control their metabolism

A

transcription

63
Q

what is the operator

A

the sequence of nontranscribable DNA that is the repressor binding site

64
Q

what is the promotor

A

the noncoding sequence of DNA that serves as the initial binding site of RNA polymerase

65
Q

what does the regulatory gene code for

A

codes for the synthesis of a repressor mc that binds to the operator and blocks RNA polymerase from transcribing the structural gene

66
Q

how do regulatory systems function

A

by preventing or permitting the RNA polymerase to pass on to the structural genes

67
Q

what are inducible system

A
  • regulation may occur via them

- which are those that require the presence of a substance called an inducer for transcription to occur

68
Q

what occurs in an inducible system

A

the repressor binds to the operator forming a barrier that prevents RNA polymerase from transcribing the structural genes

69
Q

what must bind to the repressor to allow transcription to occur in an inducible system

A

-an inducer must bind to the repressor forming an inducer-repressor complex

70
Q

what does the inducer repressor complex do if an inducer is bound to the repressor

A

This complex cannot bind to the operator thus removing it as a barrier and permitting transcription

71
Q

what kind of genes are transcribed when the induced-repressor complex cannot bind to the operator AND what type of proteins

A

structural genes which encode for an enzyme

- inducible proteins

72
Q

what is a repressible system

A
  • The repressor is inactive until it combines with the corepressor
  • Repressor can bind to the operator and prevent transcription only when it has formed a repressor-corepressor complex
73
Q

what are corepressors

A

are end products of the biosynthetic pathways they control

74
Q

why are the proteins produced in repressible systems said to be repressible

A

bc they are normally being synthesized; transcription and translation occur until the corepressor is synthesized

75
Q

what is a constitutive in a repressible system

A

enzymes which are always synthesized
- Operon containing mutations such as deletions or whose regulator genes code for defective repressor are incapable of being turned off; their enzymes which are always synthesized

76
Q

what is a pedigree

A

tools used by geneticists to track one phenotype in a family across generations
-Males are squares and females are circles

77
Q

what shape are males and females in a pedigree

A

males=square and females=circle

78
Q

traits of an autosomal recessive pedigree

A
  • A personal will only be affected if he or she possess 2 copies of the recessive allele (homozygous recessive)
  • Roughly affect roughly equal number of males and females
  • Can skip a generation due to dominant-phenotype carriers
    • when 2 unaffected individuals have offspring that are affected
79
Q

traits of autosomal dominant pedigree

A
  • a person will be affected if he or she posses one or more copies of the domiant allele ( homozygous or heterozygous)
  • effect equal number of males and females
  • appear in every generation
  • need to have 2 affected individuals who have an unaffected offspring
80
Q

traits of X linked recessive pedigree

A
  • a person will be affected if he or she possess only affected X chromosomes
  • can skip a generation
  • more males are affected than females
  • when 2 unaffected individuals produce offspring that is affected