Chapter 14 Flashcards

1
Q

what is heredity?

A

passing on of traits from one generation to the next

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2
Q

what is the blending hypothesis?

A

genetic material contributed by parents mixes like paint

(yellow + blue = green)

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3
Q

why is the blending hypothesis not how heredity works?

A
  • offspring traits not always average of parents
  • some traits are skipped and return across generations
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4
Q

what is the particulate hypothesis?

A

parents pass on distinct “heritable factors”/genes to their offspring

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5
Q

Why are peas a good organism for testing out the particulate hypothesis?

A
  • easy to grow
  • have easily distinguishable phenotypes
  • could strictly control mating between organisms to ensure parentage of offspring
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6
Q

what are “either-or” traits?

A

no intermediates, either one distinct character or another distinct one

ex: no green, either yellow or blue

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7
Q

what is the concept of true breeding?

A

breeding of offspring where the physical appearance of a parental generation is identical to the offspring generation

ex: purple parents, purple offspring

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8
Q

what are characteristics for good models when it comes to studying genetics/heredity?

A

GROS
G- generation time is rapid
R - reproduction is quick
O - offspring are plentiful
S - space taken up is small

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9
Q

what is a monohybrid cross?

A

cross between two individuals differing in A SINGLE character

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10
Q

what four hypotheses did Mendel develop to explain monohybrid cross conclusions? (3:1 in F₂ generation)

A
  1. alleles account for variations in inherited characters
  2. for each gene, an organism inherits two alleles, one from each parent
  3. if two alleles differ, the dominant allele determines organism’s phenotype
  4. law of segregation - two alleles for a heritable character separate during gamete formation and end up in different gametes
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11
Q

what are alleles?

A

alternate versions of genes

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12
Q

why do dominant alleles not suppress a recessive allele?

A

alleles don’t interact, they’re simply variations in a gene’s nucleotide sequence

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13
Q

what is the law of segregation?

A

two alleles for a heritable character separate during gamete formation and end up in different gametes, applies only to genes located on different chromosomes, or very far apart on the same chromosome.

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14
Q

Why are dominant alleles not necessarily more common than recessive alleles in the gene pool?

A

dominant alleles do not suppressive recessive alleles

an allele is dominant because it is seen in the phenotype, not because it can overcome recessive alleles

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15
Q

the segregation of alleles corresponds to what process?

A

chromosome separation in anaphase I during meiosis I

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16
Q

why doesn’t an organism’s traits always reveal its genetic composition?

A

phenotype/traits are not equal to genotype/genetic composition

(a dominant trait-expressing individual can be heterozygous or homozyogus dominant)

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17
Q

what is a testcross? what does it accomplish?

A

breeding a dominant expressing individual with unknown genotype (AA? Aa?) with a homozygous recessive individual (aa), determines genotype of an individual with a dominant phenotype

if offspring displays recessive phenotype (aa), unknown individual has heterozygous allele (Aa)

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18
Q

what are Mendel’s two laws of inheritance?

A
  1. law of segregation - following a monohybrid cross
  2. law of independent assortment - following two traits at the same time
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19
Q

what is the law of independent assortment?

A

two copies of each gene segregates into gametes independently of the two copies of another gene, genes do not influence each other with regard to the sorting of alleles into gametes: every possible combination of alleles for every gene is equally likely to occur

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20
Q

what are dihybrids?

A

crossing two true-breeding parents differing in two characteristics

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21
Q

what is a dihybrid cross?

A

cross between F₁ dihybrids
(AaBb x AaBb)

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22
Q

what does a dihybrid cross accomplish?

A

determines whether two characteristics are transmitted to offspring together as a package or independent of each other

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23
Q

what phenotypic ratio did Mendel observe that supports the hypothesis of independent assortment?

A

9:3:3:1

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24
Q

why does the law of independent assortment work as long as two genes are on two separate chromosomes?

A

if genes were on the same chromosome, both will be present on a gamete and therefore will not be independent of each other

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25
Q

the physical basis of the law of independent assortment lie in which process?

A

metaphase of meiosis I

equal probability of maternal and paternal chromosome facing a given pole

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26
Q

how does Mendel’s law of segregation and independent assortment reflect the rules of probability?

A

each event is independent, the outcome of one event has no effect on the outcome of the next event

the alleles of one gene segregate into gametes independently of another gene’s alleles

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27
Q

what is the multiplication rule?

A

“and” rule; states that the probability that two or more independent events will occur together is the product of their individual probabilities

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28
Q

what is the addition rule?

A

“or” rule; states that the probability that any one of two or more exclusive events will occur is the sum of their individual probabilities

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29
Q

How does the inheritance of characters by a single gene deviate from Mendelian patterns?

A
  1. alleles can be incompletely dominant or recessive
  2. a gene can have more than two alleles
    3.a gene can produce multiple phenotypes
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30
Q

what are the degrees of dominance?

A

the degree to which an allele is expressed on the organism

complete, incomplete, codominance

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31
Q

what is complete dominance?

A

when the phenotypes of heterozygote and dominant homozygote are identical

32
Q

what is incomplete dominance?

A

the phenotype of a hybrid is somewhere between the phenotypes of the two parental varieties

(white + red = pink offspring)

33
Q

what is codominance?

A

the two dominant alleles affect the phenotype of an offspring in separate, distinct ways, both alleles are clearly present

(white + red = white and red offspring)

34
Q

why are humans not good subjects for genetic research?

A
  1. very long generation time
  2. parents produce relatively few offspring
  3. breeding experiments are unacceptable
35
Q

how can patterns of inheritance be inferred in humans?

A

analyzing family pedigrees

36
Q

what is a pedigree?

A

a family tree that describes the interrelationships of parents and children across generations

37
Q

what are characteristics of dominantly inherited traits on pedigrees?

A
  1. males and females equally affected
  2. affected offspring have atleast one affected parent
  3. affected offspring are HETEROZYGOUS if only ONE PARENT is affected
  4. unaffected offspring are homozygous recessive
  5. if one parent is heterozygous, about half of offspring will be affected
  6. trait DOES NOT SKIP generations
  7. affected parents can have unaffected child
38
Q

why are dominant inherited alleles that cause lethal diseases rare?

A

the mutant dominant allele is likely to die out in a population because they usually result in the death of an organism before they have a chance to transmit the allele to its offspring

39
Q

what are characteristics of recessively inherited traits on pedigrees?

A
  1. males and females equally likely to be affected
  2. affected offspring often have unaffected parents, which are heterozygous
  3. heterozygous individuals are CARRIERS
  4. if both parents heterozygous, a quarter of the offspring will be affected
  5. trait OFTEN SKIPS generations
40
Q

are the sex chromosomes in humans fully homologous?

A

NO, the tips of the arms are the only regions of the sex chromosomes that are homologous

41
Q

why are the sex chromosomes not fully homologous?

A
  • different in size, X chromosome has more genes than Y chromosome
  • almost none of the genes in the X chromosome have counterparts in the Y chromosome
42
Q

what are X-linked genes?

A

genes present in the X-chromosome only

43
Q

what is the probability of getting a male or female with random fertilization?

A

ALWAYS 50%, law of segregation explains how gametes in females will result in X-bearing eggs whereas gametes in males will result in a 1:1 ratio of X-bearing and Y-bearing sperm

44
Q

is the sex of an offspring determined by sperm or egg in humans?

A

sperm, a gamete may bear Y-chromosomes containing info for male development whereas eggs will always bear X-chromosomes

45
Q

why are fruit flies a convenient organism for genetic studies?

A
  1. breed at high rate
  2. short generation time
  3. have only four pairs of chromosomes
  4. polytene chromosomes
  5. males are XY and XX, similar to humans
46
Q

what are wild type phenotypes?

A

phenotypes that are the most common in a population

genotype is denoted by a + sign

47
Q

what are mutant type phenotypes?

A

phenotypes that are alternative to the wild type, different from the most common characteristic

genotype denoted by a - sign

48
Q

why are X-linked recessive alleles most commonly expressed only in males?

A

most genes in the X chromosome have no counterparts in the Y chromosome. so a recessive mutation in an X-linked gene is expressed in males (b/c its the only gene present that can code for protein, it is dominant in a way)

49
Q

what is crisscross inheritance?

A

an X chromosome with an X-linked gene can crisscross or alternate between the sexes in successive generations

  • initially, male carried mutant gene
  • after, female carries mutant gene
  • male carries mutant gene in next generation
50
Q

what is nondisjunction?

A

when chromosomes do not separate properly during Anaphase I or II

51
Q

how does nondisjunction provide evidence that genes reside on chromosomes?

A

when X chromosomes in females occasionally fail to separate during anaphase I or II, eggs with abnormalities resulted in “exceptional” offspring that unexpected traits

52
Q

why are chromosomal abnormalities deadly?

A

When there is a missing, extra, or irregular portion of chromosomal DNA, it can cause errors in the expression of these genes, leading to physical and mental abnormalities

53
Q

what is trisomy?

A

3 copies of a chromosome in an affected individual

54
Q

what are characteristics of X-linked recessively inherited traits on pedigrees?

A
  1. males are affected more frequently than females
  2. trait is NEVER passed down from FATHER to SON
  3. affected sons are usually born to CARRIER mothers
  4. about half the sons of a carrier mother will be affected
  5. All daughters of an affected male and an unaffected non-carrier female are 100% CARRIERS
  6. Trait OFTEN SKIPS generations
55
Q

what are characteristics of X-linked dominantly inherited traits on pedigrees?

A
  1. males and females equally affected
  2. all daughters of an affected father are affected, but not the sons
  3. affected sons always have affected mothers
  4. about half the offspring of an affected other will be affected
  5. affected daughters can have affected mother or father
  6. trait DOES NOT SKIP generations
56
Q

why are X chromosomes inactivated in female mammals?

A

because they have two X chromosomes, one of their X chromosomes will be inactivated randomly in each somatic cell during embryonic development

57
Q

what is a barr body?

A

an inactivated and condensed X chromosome

58
Q

why are barr bodies produced in female mammals?

A

female mammals have 2 X-chromosomes, 1 is condensed to avoid making twice the number of proteins needed

59
Q

How are barr bodies condensed?

A

DNA Methylation

60
Q

describe X-inactivation

A
  1. Xist gene transcription is increased
  2. Xist RNA from the transcription binds with the X-chromosome inactivation center (XIC)
  3. eventually coats entire chromosome
  4. coated chromosome triggers DNA methylation
61
Q

How does DNA methylation slow/stop transcription?

A

when nucleotide bases are methylated (a methyl group is added to them), they restrict access to the genes, therefore inhibiting transcription

62
Q

Why does the Y-chromosome determine the organism’s sex as male?

A

the sex determining region Y (SRY) gene on Y-chromosome encodes the protein SRY which triggers male development

63
Q

What are characteristics of Y-linked inheritance on pedigrees?

A
  1. ONLY MALES exhibit trait
  2. females DO NOT inherit/transmit trait
  3. All sons of affected males will show the trait
64
Q

what are haplotypes?

A

a group of alleles located on the same chromosome in an organism that are inherited together from a single parent

65
Q

How can the ancestry of a male’s Y chromosome be traced?

A

By determining his Y-chromosome haplotypes

66
Q

why does an organism’s mitochondria originate from the mother?

A

mother’s oocyte has cytoplasmic contents, including mitochondria. the father’s sperm only delivers his genetic info, very small cytoplasmic contents

67
Q

What are the characteristics of a mitochondrial trait on pedigrees?

A
  1. Both males and females exhibit trait
  2. Males DO NOT transmit trait
  3. All the affected mother’s offspring are affected
68
Q

What are linked genes?

A

genes that segregate together during meiosis, same arm, same chromosome

69
Q

does independent assortment apply to linked genes?

A

No, linked genes are on the same arm and same chromosome

70
Q

what are nonrecombinant groups?

A

parental groups; offspring that have the same genotypes as their parents.

71
Q

what are recombinant groups?

A

offspring that have different genotypes compared to their parents as a result of crossing over/synapsis during prophase I

72
Q

how does crossing over result in recombinant groups?

A

allele combinations that were originally together in each chromosome have recombined in the chromosomes that participated in the crossover

73
Q

what does crossing over result in?

A

2 nonrecombinant chromosomes
2 recombinant chromosomes

74
Q

why does crossing over only result in 2 recombinant strands and not 4?

A

crossing over only occurs between only two of the four strands

75
Q

how can the frequency of recombination be used to map the relative position of genes on chromosomes?

A

the farther apart two genes are, the higher the probability that a crossover will occur between them and therefore the higher the recombination frequency

76
Q

how do you calculate the frequency of recombination?

A

(# of recombinant offspring) / (total # of offspring) x 100%

77
Q

why is the max frequency of recombination 50%?

A

the random assortment of genes generates 50% recombination when the genes are so far apart that crossing over always takes place. half the offspring will have same genotypes as parents and half will have different genotypes. Any higher than 50% means that the genes are not linked at all