Download Disorder - Northern Highlands

Human Genetic Disorders- Caused by Gene Mutations
Disorder
Sex linked/
Autosomal
Dominant/
Recessive
Primary Defect
Main Symptoms/
Life Expectancy
(L.E.)
Populations
Commonly
Affected/Frequency
in births
-Fatigue, wasting
away of muscles,
respiratory failure
Duchenne
Muscular
Dystrophy
Hemophilia
Phenylketonuria
Albinism
Sex linked
Sex linked
Autosomal
Autosomal
Recessive
Recessive
Lacks clotting
Factor VIII
Recessive
Defective form of
enzyme
phenylalanine
Hydroxylase
Recessive
Achondroplasia
“without cartilage
formation”
(Dwarfism)
Autosomal
- Defects in muscle
protein; inactive/
absence of
DYSTROPHIN
-death of muscle
cells and tissues
Dominant
- Absence of color in
hair, skin and eyes.
- defect in MELANIN
production
- Inability to convert
cartilage to bone (in
long bones)
-mutation in growth
factor gene (on
chromosome 4)
- loss of movement
-Possible mental
retardation
-L.E.: late teens or
early twenties- depends
on degree
-Bleeding without
clotting normally
-Random bleeding
-Internal bleeding
-L.E.: Unaffected if
diagnosed early- can
take up to 10 yrs. off
normal
-No ability to properly
break down the amino
acid phenylalanine
-Delayed mental and
social skills
-Small head
-Hyperactivity
-Seizures/tremors
-L.E.: Unaffected if
treated properly
(controlled by diet)
-no pigmentation in
skin, hair, eyes
-Crossed eyes
-Light sensitivity
-Vision problems
-Rapid eye movements
-L.E.: Unaffected.
-short stature (4’14’4)
- Bowed legs
- Prominent forehead,
shortened arms & legs
- Spine curvatures
- Disproportionate head
to body ratio
- normal intelligence
-L.E.: 10 yrs. Less than
normal
-1 out of every 3,600
male infants are
affected
-Affects all ethnicities.
-400 babies a year
diagnosed in U.S.
(1/7000 males)
-Affects all ethnicities.
-1 out of 15,000 births
-Occurs more in
Ireland, Norway, Italy
and China.
-1 in 17,000 births in
the U.S.
-Affects all ethnicities.
-1 in 15,000-40,000
births worldwide
Huntington’s
Disease
Autosomal
Dominant
Sickle Cell
Disease
(Heterozygous
advantage –
increased
resistance to
Malaria)
Autosomal
Recessive
- production of an
inhibitor of brain cell
metabolism
- repeated codon for
one amino acid in
the brain
- Nerve cells in the
brain waste away.
Red blood cells
form an abnormal
crescent shape due
to defective
polypeptide that
makes up
hemoglobin
Cystic Fibrosis
(Heterozygous
advantage –
increased
resistance to
typhoid – blocks
entry of bacteria
in the digestive
system)
Cataracts
Polydactyly
Tay-Sachs
Disease
Autosomal
Autosomal
Autosomal
Autosomal
Recessive
Failure of chloride
ion transport
mechanism
- gradual
deterioration of brain
tissue
- uncontrolled
movement
- Often diagnosed in
30’s– 50’s
- HallucinationsMoodiness-Dementia
- Antisocial behavior
-L.E.: 40-50 yrs.
- Impaired circulation
(clogging of capillaries)
- organ damage
- Abdominal pain
-Bone pain
-L.E.: Into 50’s and
beyond
-Thick, sticky mucus
forms in the lungs
and digestive tract
- difficulty breathing
-Coughing
-Wheezing
-Nausea/gas
-L.E.: 35 yrs.
1/10,000
(European descent)
-1 in 500 African
Americans
-More common in
people of African,
Mediterranean,
Central/South
American, Caribbean
and Middle Eastern
descent
(1/12 are carriers)
-1 per 2,000 births
-Occurs mostly in
Caucasians with
European descent
(1/25 carriers)
Dominant
-Abnormality in the
shape or structure of
the lens of the eye
- The clouding of the
natural lens of the eye
-Faded colors
-Cloudy or blurry
vision
-Glare
-Poor night vision
-L.E.: Unaffected
Affects about 1 in every
10,000 births
genetically
-Statistics vary
Dominant
Oral facial digital
syndrome and other
diseases can lead to
polydactyly.
-The development of
more than five digits
per hand or foot
-L.E.: Unaffected
-About 170 per 100,000
births are affected
-Affects African
Americans more than
other groups, 1 in 500
A deficient protein
enzyme, called
hexosaminidase.A
(found in lysosome);
causes deterioration
of central nervous
system
-Gradual blindness
and deafness
-Seizures
-Dementia
-Slow physical and
mental development
-L.E.: Usually no older
than age 5
Recessive
-1/1600
(Jewish descent)
Chromosomal Genetic Disorders
Disorder
Down Syndrome
Chromosome
Problem
Trisomy of the 21st
chromosome.
Klinefelter Syndrome
(XXy)
Trisomy of the X
chromosome.
Turner Syndrome
(X-)
Nondisjunction of the X
chromosome.
Life Expectancy
Main Symptom
-75% of babies with
down syndrome die
before they are born
Those who are born:
-15% die before 1 yr.
old
-35% before 50 yrs.
-50% live 50 and
beyond
-No reduced life
expectancy.
Intellectual disability
with short stature,
weak muscles and
distinct facial features.
Male development
affected by appearing
more feminine and
having fewer masculine
traits. (Infertility)
-Up to 13 yrs.
decreased life
expectancy
-
Short stature and
generally ovarian
failure. (Infertility)
Incomplete sexual
development