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GENETIC

DISORDERS

Genetic Disorders
-

diseases caused by an abnormality in


an individual's DNA.

Human Genome

46 chromosomes
- 23 pairs: 22 pairs autosomal chromosomes
or autosomes
: 1 pair sex chromosomes
male- x, y
female- x, x

approx 3 billion basepairs

about 30,000 to 40,000 coding genes

Karyotype
visual display of the chromosomes
arranged by size, shape and banding
pattern

Karyotype
analysis

of the chromosome make up of


the individual.
can determine if there are changes in the
number or structure of the chromosomes.
any change in the chromosome make up
may indicate genetic disorder.

Diagnosis
Amniocentesis
involves drawing out the amniotic
fluid surrounding the fetus through a
small incision made on the mothers
navel
collected fluid contains cells from the
fetus that can be analyzed

NORMAL HUMAN KARYOTYPE

NORMAL HUMAN KARYOTYPE

X and Y chromosomes

gene

ATGAGTAACGCG
TACTCATTGCGC
Transcription

mRNA

AUGAGUAACGCG
Translation

protein

Met Ser Asn Ala

Genetic code
1966
Genetic code was
discovered
Scientists are now
able to predict
characteristics by
studying DNA. This
leads to genetic
engineering,
genetic
counseling.

Types of mutations
Changes

to the letters (A,C,T,G


bases) in the DNA
point mutation
change

to ONE letter (base) in the DNA


may cause change to protein, may not

frameshift mutation
addition

of a new letter (base) in the DNA


sequence
deletion of a letter (base) in the DNA
both of these shift the DNA so it changes
how the codons are read
big changes to protein!

Chromosomal mutations

LEVEL 1:
Single Gene Disorders
result when a mutation
causes the protein product
of a single gene to be altered
or missing.

Sickle Cell Anemia


a

disorder that affects the red blood cells

due

to defect in gene found in chromosome 11 coding for


beta subunit of hemoglobin

hemoglobin

molecules don't
form properly

red

blood cells are rigid, with a concave shape (like a sickle used to cut wheat)

irregularly

shaped cells get stuck in the blood vessels and are unable to transport oxygen
effectively, causing pain and damage to the organs.

http://www.miracleofthebloodandheart.com/6_clip_image003.jpg

LEVEL 2:

Chromosomal Abnormalities

entire chromosomes, or large segments of


them, are missing, duplicated, or otherwise
altered.

NORMAL HUMAN KARYOTYPE

http://www.ucl.ac.uk/~ucbhjow/bmsi/lec7_images/47_xx_21.gif

Down
Syndrome

LEVEL 3:
Multi-factorial Disorder
These disorders result
in mutations in several
genes, with interaction
with the environment

Cancer

Cell cycle control


proteins called checkpoint proteins monitor
progression through the cell cycle.

Benign

tumors

Grow slowly
Remain in place
Malignant
Weakened

tumors (cancer)
capacity for adhesion

Metastasis

Cells break away

Enter blood vessel

Emerge in new
tissue

HUMAN GENETIC
DISORDERS

Down
Syndrome

Trisomy 21 karyotype
47,XX,+21

Cri-du Chat
Syndrome
46, 5p-

Turner Syndrome
45,XO

Klinefelter Syndrome
47, XXY

XYY SYNDROME
47,XYY

Jacobs syndrome

XYY syndrome
typically causes
- no unusual physical features or medical problems.
- Persons may be slightly taller than average,
- have more severe acne than normal.
-Skeletal malformations may also accompany
- large hands and feet
-Most males with XYY syndrome have normal sexual development and are able to
conceive children.
-Since there are no distinct physical characteristics, the condition usually is only
detected during genetic analysis for other reasons.
behavioral symptoms
more likely to have behavior problems, possibly due to a higher testosterone
XYY syndrome is not inherited, but usually occurs as a random event during the
formation of sperm cells. An error in cell division called nondisjunction can result in
sperm cells with an extra copy of the Y chromosome.
The incidence of this condition is about one in 850 males.

Chromosome map

ROYAL PEDIGREE- X-LINKED


RECESSIVE

1. Stay silent: ignore the genetic disorder and nothing gets


fixed.
2. Try to treat the disorder with drugs or other approaches:
depending on the disorder, treatment may or may not be a
good long-term solution.
3. Put in a normal, functioning copy of the gene: if you can do
this, it may solve the problem!

Treatment
Currently

available means of
treatment of genetic disorders
include alleviating or reducing
the gravity of the symptoms of
the genetic disorders such as
medicine, replacement of
damaged cells through stem
cells and gene therapy.

Genetic
Disorder

1.
2.
3.
4.
5.
6.
7.
8.
9.

Caus
e
s

Manifestati
ons
(Symptoms
)

Mode of
Inherita
nce

Possible
Treatme
nt

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