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DISORDERS
Genetic Disorders
-
Human Genome
46 chromosomes
- 23 pairs: 22 pairs autosomal chromosomes
or autosomes
: 1 pair sex chromosomes
male- x, y
female- x, x
Karyotype
visual display of the chromosomes
arranged by size, shape and banding
pattern
Karyotype
analysis
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
X and Y chromosomes
gene
ATGAGTAACGCG
TACTCATTGCGC
Transcription
mRNA
AUGAGUAACGCG
Translation
protein
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
frameshift mutation
addition
Chromosomal mutations
LEVEL 1:
Single Gene Disorders
result when a mutation
causes the protein product
of a single gene to be altered
or missing.
due
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
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
Benign
tumors
Grow slowly
Remain in place
Malignant
Weakened
tumors (cancer)
capacity for adhesion
Metastasis
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
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
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Caus
e
s
Manifestati
ons
(Symptoms
)
Mode of
Inherita
nce
Possible
Treatme
nt