Darius Goes West

A study of Human Genetics and Disease

Day 1

Why do I look the way I

do?

http://www.lwtech.edu/images/Acedamics/Social
%20Services/Social_Human_Services_Group.jpg

Its all in your genes (not jeans

)
Inside

the nucleus of every cell of

an organism are structures called
chromosomes.

DNA
Chromosomes

are
made of tightly coiled
DNA (deoxyribonucleic
acid) molecules.

DNA

is the master copy

of an organisms code

When

mitosis takes
place, DNA is copied
and passed to new cells

DNA

controls the
activities of cells

Every

cell contains DNA

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Genes
Genes

are sections of

DNA.
Genes control the
production of proteins
in the cells.
Proteins determine
the traits of an
organism.
Humans have 23
pairs of
chromosomes for a
total of 46 (do the
math)
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What are genes? - video

Day 2

(Label diagram as review from Day 1)

Day 2

Normal DNA Structure

DNA is in the shape of a
double helix. twisted
ladder
The handrails of the
ladder are two twisted
strands of sugar and
phosphate molecules
(handrails)
Stairs of the ladder are
made up of molecules
called nitrogen bases
4 kinds of nitrogen bases
including adenine,
guanine, cytosine, and
thymine

Normal DNA Structure

Nitrogen

Base Pairs:

Adenine only pairs

with thymine
Guanine only pairs
with cytosine
Build

a DNA model:

Day 3

What disease does

Darius have?
How did Darius get this
disease?

10

Where did my traits come from?

Each human sex cell has 23 chromosomes. When

they join, the offspring (you) has 23 pairs, from

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BUT..
All

of my family members have

brown eyes, mine are blue
My new baby sister has red hair,
the rest of us have brown
hair.
My mom and dad are right
handed, I am left handed

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Lets remember Mendel and the

pea plants.review
Mendels

research
revealed that every
offspring receives one
allele (form of a gene) for
a trait from each parent.
These alleles can be
dominant or recessive.
A dominant alleles trait
always shows up when it
is present. It is
represented by a capital
letter.
A recessive allele
remains hidden as long as
the dominant allele is
there. It is represented by
a lower case letter.

If

an organism has 2
identical alleles, such
as 2 dominant (TT) or 2
recessive (tt), it is said
to be homozygous for
that trait.
If an organism has 2
different alleles, 1
dominant and 1
recessive (Tt), it is said
to be heterozygous
for that trait.

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Human inheritance
A

number of human traits are

controlled by a single gene with 2
alleles (one from each parent)
The Punnett square can be used
to predict the probability that an
offspring will have a specific trait.

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Mom and Dad both have brown eyes (B), but they
both carry the recessive allele for blue eyes (b).
Could their offspring have blue eyes?
Complete the square to find out

Dad

B
b
Mom

Whats the probability of the offspring having

brown eyes? Blue eyes?
Are mom and dad homozygous or
heterozygous for eye color?

15

How is gender
determined?
Chromosome

pair #23 are the

sex
chromosomes.
They are the
only pair that do
not match.
A girl has 2, X
chromosomes
A boy has an X
and a Y
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Boy or girl? The answer is in

the Punnett square

What is the probability that the

offspring will be a girl? A boy?

Video
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DNA Mutations
A

mutation is a change in the

DNA sequence of a gene.
Mutations can be
1. Acquired when an environmental
factor damages DNA.
2. Inherited from parents
Some

are harmless, others can

cause disorders/diseases

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Harmless DNA mutations

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Genetic Disorders
A

genetic disorder is an abnormal condition that a

person inherits through genes or chromosomes.

Just

like physical traits, genetic disorders can also

be passed from parent to offspring.

Genetic

disorders can be caused by

1. Mutations in the DNA of genes
2. Changes in the structure of
chromosomes
3. Changes in the number of
chromosomes

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Recessive disorders
Passed

from
parents to
offspring when
both parents are
carriers of the
disorder.
Parents may not
know they are
carriers

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Recessive Disorders
Cystic

Fibrosis - body produces abnormally

thick mucus that fills the lungs and makes
it difficult to breathe.

Sickle

Cell Anemia - red blood cells are

sickle-shaped instead of disc-shaped. Cells
cant deliver enough oxygen and clog blood
vessels

Tay

Sachs Disease fatty proteins build up

in the brain destroying nerve cells in the
brain and spinal cord.
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Sex-linked recessive disorders

Inherited

conditions that are linked with

X and Y chromosomes
Hemophilia Blood clots very slowly or not at
all. Occurs more frequently in males
Duchenne Muscular Dystrophy progressive
loss of muscle strength that eventually
affects the heart and lungs. It caused by a
lack of the protein, dystrophin. Occurs more
frequently in males.
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How Darius acquired DMD

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Chromosomal Disorders
Downs

Syndrome is an example
of a chromosomal disorder
A person with Downs syndrome
has an extra copy of chromosome
21.

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Genetic Testing
Today,

medical advances have developed

screening tests for many genetic disorders.

Questions

to ponder.

Should couples who might pass along a genetic

disorder to children be tested to decide whether
or not to have such children?
Should people be tested for genes for a future
disorder if there is no cure available for the
disorder?
Could someone be discriminated against by
employers or health insurance companies if they
had knowledge of the existence of a disorder?
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