Errors of Meiosis

Chromosomal Abnormalities

AP Biology 2006-2007
 Chromosomal abnormalities
Incorrect number of chromosomes
nondisjunction
chromosomes dont 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
homologous chromosomes do not separate
properly during Meiosis 1
sister chromatids fail to separate during Meiosis 2
too many or too few chromosomes

2n n-1
n

n+1
n

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 Alteration of chromosome number

error in Meiosis 1

error in Meiosis 2

all with incorrect number 1/2 with incorrect 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 n n-1 n

trisomy monosomy
2n+1 2n-1
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 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?
hormones?
transcription factors?
Certain conditions are tolerated
upset the balance less = survivable
but 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
Incidence of
Mothers age 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 Rate of miscarriage due to
40 1 in 105 amniocentesis:
1970s data
42 1 in 60
0.5%, or 1 in 200 pregnancies
44 1 in 35
46 1 in 20
2006 data
<0.1%, or 1 in 1600 pregnancies
48 1 in 16
49 1 in 12
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 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
XXY = Klinefelters syndrome male
XXX = Trisomy X female
XYY = Jacobs syndrome male
XO = Turner syndrome female
Know inheritance
and characteristics
of each!
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 Klinefelters 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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 Klinefelters syndrome

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 Jacobs 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 maturity

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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 Know each and
their cause!
Changes in chromosome structure
deletion
replication
error of

loss of a chromosomal segment

duplication
repeat a segment
crossing over

inversion
error of

reverses a segment
translocation
move segment from one chromosome
to another
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 Genomic Imprinting
The phenotypic effects of some mammalian
genes depend on whether they were inherited
from the mother or the father (imprinting)
Does depend on which parent passed along the
alleles for those traits.

The genes involved are not sex linked and may

or may not lie on the X chromosome.

AP Biology Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings

 Prader-Willi syndrome and Angelman syndrome,
-due to the same cause, a deletion of a specific segment
of chromosome 15.

Prader-Willi syndrome- characterized by mental

retardation, obesity, short stature, and unusually
small hands and feet. These individuals inherit
the abnormal chromosome from their father.

Angelman syndrome exhibit spontaneous

laughter, jerky movements, and other motor and
mental symptoms. This is inherited from the
mother.
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 The difference between the disorders is due to
genomic imprinting.
The imprinting status of a given gene depends on
whether the gene resides in a female or a male.
Methyl groups are added to cytosine nucleotides on
one of the alleles.
Heavily methylated genes are turned off.

The animal uses the allele that is not imprinted.

Several hundred mammalian genes, many critical

for development, may be subject to imprinting.
Imprinting is critical for normal development.

AP Biology Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings

 In the new generation,
both maternal and
paternal imprints are
apparently erased in
gamete-producing cells.

Then, all chromosomes

are re-imprinted
according to the sex of
the individual in which
they reside.
Fig. 15.15
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 Any Questions?

AP Biology 2006-2007