Errors of Meiosis
Chromosomal Abnormalities
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2006-2007
replication
error of
Changes in chromosome structure
 deletion

 duplication
crossing over

error of
loss of a chromosomal segment
repeat a segment
 inversion

reverses a segment
 translocation

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move segment from one chromosome
to another
Chromosomal abnormalities
 Incorrect number of chromosomes

nondisjunction
 chromosomes don’t separate properly
during meiosis

breakage of chromosomes
 deletion
 duplication
 inversion
 translocation
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Nondisjunction
 Problems with meiotic spindle cause errors in
daughter cells



2n
homologous chromosomes do not separate
properly during Meiosis 1
sister chromatids fail to separate during Meiosis 2
too many or too few chromosomes
n-1
n
n+1
n
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Alteration of chromosome number
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Nondisjunction
 Baby has wrong chromosome number

trisomy
 cells have 3 copies of a chromosome

monosomy
 cells have only 1 copy of a chromosome
n+1
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n-1
n
n
trisomy
monosomy
2n+1
2n-1
Human chromosome disorders
 High frequency in humans
most embryos are spontaneously aborted
 alterations are too disastrous
 developmental problems result from
biochemical imbalance

 imbalance in regulatory molecules?
 Certain conditions are tolerated
upset the balance less = survivable
 characteristic set of symptoms = syndrome

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Down syndrome
 Trisomy 21
3 copies of chromosome 21
 1 in 700 children born in U.S.

 Chromosome 21 is the
smallest human chromosome

but still severe effects
 Frequency of Down
syndrome correlates
with the age of the mother
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Down syndrome & age of mother
Mother’s age
Incidence of
Down Syndrome
Under 30
<1 in 1000
30
1 in 900
35
1 in 400
36
1 in 300
37
1 in 230
38
1 in 180
39
1 in 135
40
1 in 105
42
1 in 60
44
1 in 35
46
1 in 20
48
1 in 16
49
1 in 12
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Rate of miscarriage due to
amniocentesis:
 1970s data
0.5%, or 1 in 200 pregnancies
 2006 data
<0.1%, or 1 in 1600 pregnancies
Genetic testing
 Amniocentesis in 2nd trimester
sample of embryo cells
 stain & photograph chromosomes

 Analysis of karyotype
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Sex chromosomes abnormalities
 Human development more tolerant of
wrong numbers in sex chromosome
 But produces a variety of distinct
syndromes in humans




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XXY = Klinefelter’s syndrome male
XXX = Trisomy X female
XYY = Jacob’s syndrome male
XO = Turner syndrome female
Klinefelter’s syndrome
 XXY male
one in every 2000 live births
 have male sex organs, but
are sterile
 feminine characteristics

 some breast development
 lack of facial hair
tall
 normal intelligence

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Klinefelter’s syndrome
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Jacob’s syndrome male
 XYY Males
1 in 1000 live male
births
 extra Y chromosome
 slightly taller than
average
 more active
 normal intelligence, slight learning disabilities
 delayed emotional immaturity
 normal sexual development

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Trisomy X
 XXX
1 in every 2000 live births
 produces healthy females

 Why?
 Barr bodies
 all but one X chromosome is inactivated
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Turner syndrome
 Monosomy X or X0
1 in every 5000 births
 varied degree of effects
 webbed neck
 short stature
 sterile

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Examples of Chromosome Mutations

Polyploidy
•
•
•
•
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Whole extra set of chromosomes
Treat cells with colchicine - freezes
metaphase
Effects in plants
 Bigger, better, hardier, more disease
resistant
Effect in animals
 lethal
Examples of Gene Mutations
Name of Disorder Symptoms
Cystic Fibrosis
• Produce thick, sticky mucus that
clogs lungs and prevents
enzymes from going from
pancreas to intestine
• More prone to respiratory
infection and digestive difficulty
• Can be fatal
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Examples of Gene Mutations
Name of Disorder Symptoms
Sickle Cell
Anemia
• Red blood cells mis-shaped so
carry less oxygen
• Effects bone, brain & kidneys
• Homozygous(S’S’) =lethal
• Heterozygous(S’S)=better able to
survive malaria (more prevalent
in warm climates/African decent)
• Incomplete dominance
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Examples of Gene Mutations
Name of Disorder Symptoms
PKU
(Phenylketonuria)
• Inability to produce an enzyme
that breaks down phenylalanine
• Effects mental development
• Treatment: no intake of food that
contains phenylalanine (milk)
• Detected by a blood test at birth
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Examples of Gene Mutations
Name of Disorder Symptoms
• Lack of enzyme to break down
certain fat
Tay Sachs
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•
Effects: failure of proper nervous
system development
•
Treatment: none Usually lethal
•
Detected by a blood test at birth or
genetic testing of parents
•
Common in people of Eastern
Europeans Jewish decent
Examples of Gene Mutations
Name of Disorder Symptoms
• Failure to produce enough insulin
Diabetes
mellitus
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•
Effects: too much sugar in blood, not
enough in cells. Can affect kidney,
eye sight, etc
•
Treatment: insulin injections
•
Detected by sampling urine for
presence of sugar
•
Influenced by weight, diet, age, etc
Examples of Gene Mutations
Name of Disorder
Symptoms
•
Lack of certain proteins which act as
clotting factors and prevent bleeding
to death
•
Effects: can bleed to death from
simple cut or bruise
•
Treatment: transfusions of clotting
factor
•
Sex linked, carried on X
chromosome
Hemophilia
(bleeder’s
disease)
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Examples of Gene Mutations
Name of Disorder Symptoms
• Lack certain types of color vision
Color Blindness
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•
Sex linked, carried on X
chromosome
Examples of Gene Mutations
Symptoms
Name of Disorder
• progressive weakness and
degeneration of the skeletal
Muscular
muscles which control movement.
Dystrophy
• Several different kinds Duchenne’s is sex linked
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Examples of Gene Mutations
Name of Disorder Symptoms
• degeneration of brain
cells(neurons), in certain areas
Huntington’s
of the brain.
• This degeneration causes
uncontrolled movements,
• loss of intellectual faculties,
• and emotional disturbance.
• Symptoms are not noticeable until
mid forties
• Genetic testing is available for this
allele
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