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Human Genetics

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by

Richard Huey

on 1 November 2013

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Transcript of Human Genetics

Genetics and Sex
Chromosomal Basis
Sex chromosomes
are X and Y
Females are XX
Males are XY
Problems
Different sizes affect
what alleles can be present.
Sex-linked recessive trait
- female gets two alleles
-male gets only one allele
Also, females cannot
survive with both X
chromosomes active.
So one is randomly condensed
to form Barr body.
Punnet Squares and
Sex-linkage
Works the same way only insert
a y for the second allele in a male.
Also, interpret by
the sexes, not total
offspring.
A
a
A
y
AA
Aa
Ay
ay
Sex-linked problems
Colorblindness
Certain Hemophilia
Affect on history - Russia
Ratios: usually a 1:1:1:1
Chromosome problems
First is structural.
Second is nondisjunction
Here, the spindle fails
to work correctly.
As a result, chromatids
do not separate like they
are supposed to.
End result, more or less
chromosome numbers.
Aneuploidy
Having abnormal number
of a particular chromosome.
Plants can survive multiple
chromosome copies. Animals
cannot.
Monosomy - one copy less.
Trisomy - one copy more.
Human examples
Down syndrome =
Trisomy 21
Turner syndrome =
XO
Klinefelter syndrome =
XXY
Jacob's syndrome =
XYY
PREDICTIONS AND TOOLS
Pedigrees
and
Testing
Pedigree is a family tree
that traces a trait.
Fetal Testing
Amniocentesis
Chorionic villus
sampling (CVS)

Common genetic defects
Cystic fibrosis
Sickle-cell disease
Huntington's disease
Achondroplasia
Full transcript