Transcript Cystic Fibrosis “65 Roses”

Classifying Genetic Disorders
Single Gene
Chromosomal
Autosomes
Sex Chromosomes
Autosomal
Dominant
Sex-Linked
Disorders
Autosomal
Recessive
Large portion or
entire chromosome
Chromosomal
Abnormalities
Human Genetic Disorders
21 of the 3,000
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Cystic Fibrosis
Tay-Sachs
Albinism
Huntington Disease
Achondroplasia
Marfan Syndrome
Club Foot
Duchenne Muscular
Dystrophy
Down Syndrome
Cri-Du-Chat
Hemophilia
Sickle-Cell Anemia
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Klinefelter Syndrome
PKU
Diabetes
Adrenoleukodystrophy
Red-Green Colorblindness
Polydactyly
SCIDs
Progeria
Turner Syndrome
Cystic Fibrosis
• Affects lungs and digestive
system
• Eastern European ancestry
•1 in 25 are carriers of
mutated gene
•Avg. lifespan = 32 years
•CTFR protein abnormality
Cystic Fibrosis
Tay - Sachs
Tay - Sachs
• Eastern European Jewish decent
• Lack vital enzyme (protein) Hex–A needed to break down fatty
waste substance found in brain cells.
• No Hex A = abnormal accumulation of fatty waste in brain cells
• Lose motor skills and mental functions
• Eventually blind, deaf, mentally retarded, paralyzed and non
responsive to environment
• Death by age 5
Albinism
• Altered gene does not allow
body to make the usual
amount of a pigment called
melanin
• 1 in 17, 000 people
• Little or no pigment in eyes,
skin and hair.
Huntington Disease
• Gene produces protein
called Huntington which
leads to damage of the
nerve cells in the brain.
• Slowly diminishes the
affected individual's ability
to walk, think, talk and
reason. Jerky movements
common.
• Late onset b/w 30-50 yrs.
• Death occurs approximately
12 years after onset.
• Crosses all races and ethnic
backgrounds
Huntington Disease
Are there carriers in disorders that are autosomal dominant?
Achondroplasia
• Genetic disorder of bone
growth that is evident at
birth.
• Affects about one in every
25,000 births
• Occurs in all races and in
both sexes.
• Normal torso , short arms
and legs, generally the head
is large, the forehead is
prominent, and the nose is
flat at the bridge.
Marfan Syndrome
Marfan Syndrome
• A connective tissue disorder.
• Linked to the FBN1 gene, chromosome 15, which
encodes a protein called fibrillin, essential for the
formation of elastic fibers found in connective
tissue.
• Without the structural support provided by fibrillin,
ruptures in the walls of major arteries can occur,
spine may curve, eye lens may dislocate.
• Unusually long limbs, and is believed to have
affected Abraham Lincoln.
Club Foot
Duchenne Muscular Dystrophy
• Rapid progression of muscle
degeneration that occurs
early in life (first 3 yrs).
• An estimated 1 in 3500 males
affected worldwide.
• Gene for DMD found on X
Chromosome. Encodes
protein called dystrophin
which is involved in
structural support of muscle
cells
• Clumsiness in walking, many
falls by age 10, muscles so
weak wheelchair bound.
Death by age 20
Down Syndrome
Trisomy 21
Some degree of mental retardation, or
cognitive disability, developmental delays.
Common physical traits, but not always
present:
- folds over the eyes
- flattened bridge of nose
- a single palmar crease
Down Syndrome
Klinefelter Syndrome
• 47,XXY: Extra X chromosome
• Hormone Imbalance
• sterility, breast development, small testes,
incomplete masculine body build, sparse facial
and body hair
• Non-disjunction disorder
Klinefelter Syndrome
Cri-du-chat Syndrome
Caused by genetic material being lost
from the short arm of the 5th
chromosome
Dr Lejeune (French) discovered the
disorder in 1963 gave the syndrome the
name "cat cry" due to the characteristic
cry of newborns which is not unlike the
mewing of a kitten.
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Cri-du-chat Syndrome
Turner Syndrome
XO
Turner Syndrome
Hemophilia
Deficiency in clotting factors that must work
in a specific sequence to produce blood
clotting.
Hemophilia
European Royal Family
Sickle-Cell Anemia
• Most commonly found among African American population
• Carriers less likely to die from Malaria
• Sickle cell anemia is a painful disease caused by red blood cells
that become malformed into bent and distorted shapes.
• “Sickled" cells don't have the ability to flex like the normal
cells as they travel through the capillaries.
Sickle-Cell Anemia
~256,000 base pairs in gene
Phenylketonuria (PKU)
• Enzymatic disorder affects the
way the body processes protein
• Cannot process phenylalanine
(amino acid) in protein
• Mental retardation and epilepsy
occur if not detected early
• If treated early, lead normal
life with diet modifications
(low-protein)
Diabetes Mellitus
• Serious, chronic condition of high blood sugar. Person has an
inability to transport sugar from the bloodstream into cells
• If left untreated, it may result in blindness, heart attacks,
strokes, kidney failure and amputations.
• Diabetes is the fourth leading cause of death in the United
States. More than 178,000 people die each year from this
disease.
• 2 Types
Type I – IDDM (pancreas does not make insulin)
Type II – NIDDM (pancreas makes little or not enough and body
does not properly use the insuliln) – most common
Adrenoleukodystrophy (ADL)
Lorenzo’s Oil
Born May 29, 1978, now 25 yrs. old
Cannot see, talk or move
Communicates by blinking
Adrenoleukodystrophy (ADL)
• (ALD) is a peroxisomal disorder.
• Peroxisomes are cell organelles involved in the metabolism of
long chain fatty acids. One or more peroxisomal enzymes may
malfunction causing accumulation of very long chain fatty acids.
• In the brain these fatty acid chains cause breakdown myelin
which surrounds nerve cells
• Lorenzo’s Oil = mixture of olive and rapeseed oils that, delay the
build-up of the fatty acids thought to contribute to the
breakdown of the nerve coating.
Red-Green Colorblindness
A person cannot distinguish
shades of red and green
(usually blue-green).
Occurs mostly in males
Polydactyly
Extra digit on hand or foot or both
1/1000 in Caucasian population; 1/100 in African American
population
Sever Combined
Immunodeficiency Disorder
(SCIDs)
Persons born with SCIDs lack the ability to fight off
infections
Often called "bubble boy disease"
Progeria
-Children with Progeria die of
atherosclerosis (heart disease) at an
average age of thirteen years
-There is some evidence that it is
inherited from a parent on an
autosome. Some scientists believe that
the genetic defect might arise through
a spontaneous mutation.