chapter fifteen Flashcards

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1
Q

chromosome theory of inheritance

A
  • Mendelian “factors” - genes
  • specific loci on chromosomes
  • replicated, segregated, independently assorted
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2
Q

Thomas Hunt Morgan

A

provided first solid evidence for chromosome theory of inheritance
- fly lab

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3
Q

what did Morgan use in his research

A

Drosophila melanogaster
- has 4 pairs of chromosomes

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4
Q

mutant phenotype of Drosophila melanogaster

A

white eyes
- alternate to wild type, originated as mutation

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5
Q

wild type of Drosophila melanogaster

A

red eyes

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6
Q

wild type

A

most commonly observed in natural populations
- could be dominant or recessive

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7
Q

white-eye x wild cross

A

F1: all red eyes (wild type)
F2: all females red eyes, 50% males red, 50% males white

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8
Q

sex-linked genes

A

a gene located on either sex chromosome
- X or Y linked

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9
Q

linked genes

A
  • not sex-linked
  • physically linked to other, located near each other and inherited together in genetic crosses
  • don’t assort independently
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10
Q

what are genetic recombinations a result of?

A

independent assortment of chromosomes, crossing over, which sperm fertilizes which egg

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11
Q

sex determination of mammals

A

XX, XY
- depends on if sperm has X or Y
- male has Y

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12
Q

sex determination of Drosophila

A

X:autosome ratio determines male/female
- X/a < 0.5 = male
- X/a > 1 = female
- between 0.5-1 = intersex

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13
Q

sex determination of some insects

A
  • females XX
  • males XO
  • determined if sperm contains X chromosome or not
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14
Q

sex determination of birds, some fish/insects

A
  • ZW female
  • ZZ male
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15
Q

sex determination of bees and ants

A
  • diploid - females develop from fertilized eggs
  • haploid - males develop from unfertilized eggs
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16
Q

potential problem for males in transmission of X-linked recessive traits

A

any male receiving recessive allele from mother will express the trait because they have 1 X chromosome

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17
Q

why don’t recessive lethals don’t normally appear in females

A
  • they have another X chromosome, dominant masks recessive
  • would need 2 copies of recessive, and would only get this from dad, but if dad had it he wouldn’t survive
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18
Q

ex. of recessive sex-linked traits

A
  • Red-green color blindness
  • Duchenne Muscular Dystrophy
  • Hemophilia
19
Q

X-inactivation

A
  • almost all of one X chromosome becomes inactivated during early embryonic development, condenses into
    Barr Body
  • involves modification of DNA/proteins, attaches methyl groups to nucleotides
20
Q

Barr Body

A

inactivated X chromosome that lies inside of nuclear envelope
- reactivated in cells that give rise to eggs

21
Q

nondisjunction

A

when members of a pair of homologous chromosomes don’t move properly apart during meiosis I

22
Q

disjunction

A

sister chromatids fail to separate in meiosis II
- 1 gamete receives 2 of same type of chromosome, other receives no copy

23
Q

aneuploidy

A

when aberrant gamete unites w/ normal at fertilization, zygote will have abnormal # of particular chromosome

24
Q

trisomic

A

if chromosome is present in triplicate in zygote
- 2n + 1

25
Q

monosomic

A

fertilization involving gamete w/ no copy (missing chromosome) in zygote
- 2n - 1

26
Q

polyploidy

A

having an unusual number of complete chromosome sets in somatic cells
- triploidy
- tetraploidy

27
Q

where is polyploidy common?

A

plants

28
Q

where is polyploidy rare?

A

animals
- but more normal in appearance than aneuploids

29
Q

types of alterations in chromosome structure

A
  1. deletions
  2. duplication
  3. inversion
  4. translocation
30
Q

deletions

A

chromosomal fragment lost
- then misses certain genes

31
Q

duplication

A

broken fragment may become reattached as extra segment to a sister/nonsister chromatid

32
Q

inversion

A

chromosomal fragment may reattach to original chromosome but in reverse orientation

33
Q

translocation

A

chromosomal fragment joins non homologous chromosome

34
Q

down syndrome (Trisomy 21)

A
  • extra chromosome 21, 47 chromosomes
  • short stature, heart defects, developmental delays, shorter life span
  • incidence increases with age of parent
35
Q

ex. of aneuploidy of sex chromosomes

A
  1. Klinefelter’s syndrome
  2. XYY
  3. Trisomy X
  4. Turner’s syndrome
36
Q

Klinefelter’s syndrome

A
  • XXY
  • have male sex organs but testes are small and produce little/no sperm
  • male
37
Q

XYY

A

typical sexual development, taller than average
- male

38
Q

Trisomy X

A
  • female
  • taller than average, but at risk for learning disabilities
39
Q

Turner’s syndrome

A
  • monosomy X
  • sterile, sex organs don’t mature, demonstrate sex characteristics when provided w/ estrogen
  • female
40
Q

extra-nuclear (organelle) genes

A
  • genes located in organelles
  • mitochondria/chloroplasts
41
Q

mitochondrial myopathy

A
  • weakness, intolerance of exercise, muscle deterioration
  • defect in genes of mitochondria that reduce amount of ATP made in ETC/synthase
42
Q

what is now being used to trace ancestry?

A

MtDNA

43
Q

where are mitochondrial disorders inherited from?

A

mother

44
Q

types of autosomal aneuplodies in humans

A
  1. trisomy 21 - Down syndrome
  2. trisomy 18 - Edward syndrome
  3. trisomy 13 - Pateau syndrome
    - all other types end in miscarriage