Chapter 11 &14

Human Genetics
and Meiosis

The study of
inheritance patterns Oculocutaneous albinism

in humans
What each of the human
chromosomes look like
Karyotype: A photomicrograph of
chromosomes arranged according to
a standard classification
 In other words…
• Chromosomes are digitally arranged so
that they are matched with their
homologue or “partner” chromosome.

• Homologue chromosomes are the same

size, shape, and carry the same genes,
and one is inherited from each parent.

• They are numbered according to size.

 Sex determination with karyotype
• This karyotype has 23
exact pairs, which
means the person is
female.

• Note that #23

chromosomes are
both X.
 Normal human male
• Note that #23
chromosomes
are X and Y.
Is this person female or male?
 Trisomy 21
• Abnormality
shown in
karyotype
• Note that there
are three copies
of #21
chromosome.
• This person has
Down
Syndrome.
Photos of Down Syndrome patients from
the National Down Syndrome Society
Correlation between mother’s age
and Trisomy 21 incidence
 Monosomy X
• Abnormality
shown in
karyotype
• Note this
person only has
1 copy of the X
chromosome.
• This female has
Turner’s
syndrome.
XXY Male (Extra X)
How are DNA samples obtained for
karyotypes?
Amniocentesis: obtaining amniotic
fluid which has cells from the fetus
 Chorionic villi sampling: removing
cells from the chorion with fetal tissue
If there are chromosomal number
abnormalities, how do they form?
• Meiosis: the process of creating sperm or
egg from a diploid cell

• If there is a mistake when chromosomes

are separating, then the resulting sperm or
egg will have too many or too few
chromosomes.
Click on image to play video.
Meiosis 1
 Meiosis II

Prophase II Metaphase II Anaphase II Telophase II

Meiosis I results in two The chromosomes line up in a The sister chromatids Meiosis II results in four
haploid (N) daughter cells, similar way to the metaphase separate and move toward haploid (N) daughter cells.
each with half the number of stage of mitosis. opposite ends of the cell.
chromosomes as the original.
 Oocyte or Spermatocyte
• This cell that can
undergo meiosis
originally has 6
chromosomes and
has replicated to 12
chromosomes in
preparation for
meiosis.
 Prophase I: homologous
chromosomes pairing into tetrads
Metaphase I: tetrads align, along
the metaphase plate
Anaphase I: homologous chromosomes
separate from the metaphase plate
• If chromosomes
do not properly
separate, this is
called
nondisjunction.
• Nondisjunction
leads to trisomy
and monosomy
disorders.
 Telophase I: membranes form
around the separated homologues
 Prophase II: spindle fibers bind to the
sister chromatids of each chromosome
Metaphase II: chromosomes align
along the metaphase plate
Anaphase II: sister chromatids
separate to opposite poles
Telophase II: nuclear membrane forms
around newly separated chromatids
• Note that each new nucleus formed has ½
the amount of DNA as the original cell.
• These cells are haploid cells.
Nondisjunction
How can siblings look alike but not
exactly the same if they come from the
same parents?
 Crossing over
• The chromosomes during prophase I
undergo crossing over, where parts of the
homologues randomly switch places.
 Importance of crossing over
• The gene
combinations that a
person gets from his
or her parents will be
different, to varying
degrees, than the
combination a sibling
may get.
More sibling similarities
What other
chromosomal
disorders can arise?

• Deletion
• Inversion
• Translocation*
• Duplication

*Don’t worry about this one.

Chromosomal mutations

Deletion

Duplication

Inversion

Translocation
 Problems with chromosomes
• Duplication: copied parts of chromosome

A A
B B
C B
D B
C
D
 Problems with chromosomes
• Deletion: missing parts of chromosome

A A
B D
C
D
 Problems with chromosomes
• Inversion: parts of chromosome tched

A A
B C
C B
D D
 Human genetic disorders from
deleterious genes
• Sometimes the alleles inherited contribute to
disorders and not from the number or shape of
the chromosomes.

1. Sex-linked: genes found on X or Y

chromosome
2. Recessive: requires 2 allele copies to express
disorder
3. Dominant: requires only 1 allele copy to
express disorder
Recessive disorders
Dominant disorder
Sex-linked disorder
 Are you red-green color blind?
• Yes, if you
have a difficult
time
distinguishing
a number from
this picture
Pedigrees: a chart which can show trait
inheritance through several generations

Albinism
 Symbols

marriage

Male Female
More symbols

She gave birth!

Pain! Suffering!
Even more symbols

… and they have a litter of 4!

 Still more symbols
Affected. AA Normal
or aa heterozygous
Albinism – recessive disorder

aa Aa

Aa aa Aa Aa
Deafness – dominant disorder

aa Aa or AA?

Mother must be AA.

Aa Aa Aa Aa
Colored blindness – Sex linked

XcY XCXc

XcY XCXc XCY XcXc

 Pedigree of Hsu family

Me!
Review Videos
Click on image to play video.
Click on image to play video.
Click on image to play video.
Click on image to play video.