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Mutations Genetic Disorders

Mutations can occur in DNA and chromosomes, leading to genetic disorders. Point mutations involve a change in a single nitrogen base, while chromosomal mutations involve changes in chromosome structure like inversions, translocations, deletions, and duplications. Nondisjunction during meiosis can result in trisomies or monosomies. Genetic disorders can be detected through tests like chorionic villus sampling, ultrasound, and amniocentesis. Examples of genetic disorders discussed include Down syndrome, cystic fibrosis, hemophilia, sickle cell anemia, and phenylketonuria.

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Kimberly Lopez
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187 views25 pages

Mutations Genetic Disorders

Mutations can occur in DNA and chromosomes, leading to genetic disorders. Point mutations involve a change in a single nitrogen base, while chromosomal mutations involve changes in chromosome structure like inversions, translocations, deletions, and duplications. Nondisjunction during meiosis can result in trisomies or monosomies. Genetic disorders can be detected through tests like chorionic villus sampling, ultrasound, and amniocentesis. Examples of genetic disorders discussed include Down syndrome, cystic fibrosis, hemophilia, sickle cell anemia, and phenylketonuria.

Uploaded by

Kimberly Lopez
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© © All Rights Reserved
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Mutations &

Genetic Disorders
Mutations
Mutation:
 Any mistake or change in the DNA sequence

Point mutation:
 Change in
one nitrogen
base in DNA
 Ex: albinism
Chromosomal Mutation:
 Changes in
chromosome
structure
1) INVERSION:
 the order of genes on
a chromosome is
inverted
2) TRANSLOCATION:
•the movement of a
chromosome fragment to
a nonhomologus
chromosome
3. DELETION
 Loss of a few bases
 Loss of large regions
of a chromosome

4. DUPLICATION
 Duplication of a few
bases
 Duplication of large
regions of a
chromosome
Crossing Over
 Occurs when
chromosomes
exchange genes.
 2 chromosomes
overlap.
 Some genes
cross over and
switch places
NONDISJUNCTION
Nondisjunction:
 chromosome pair fails
to separate properly
during meiosis
Monosomy:
 gamete has 1 less
chromosome than it
should
 45 chromosomes
is the result
 Ex: Turner syndrome
 Missing a sex
chromosome
Trisomy:
Gamete has 1
more chromosome
than it should
Result is 47
chromosomes
Ex: Down’s
Syndrome
Extra#21
chromosome
Methods of Detection
Chorion villi sampling:
•Take sample of the chorion
–(membrane surrounding
fetus)
•Chemical tests and Karyotyping performed

Ultrasound:
 Sound waves are used to
generate an image of the
unborn child.
 Used to detect abnormalities of
limbs, organs, etc.
Amniocentesis:
• Fluid surrounding the fetus is drawn out by
needle
• Fetal cells are collected and grown in a lab.
• Chromosomes can be then Karyotyped
Autosomal Disorders
 Down’s Syndrome (Trisomy 21)

 Patau’s Syndrome (Trisomy 13)

 Edward’s Syndrome (Trisomy 18)


Down’s Syndrome (DS)
 Excess # 21 chromosome
 Prenatal testing can be done
 Result of chromosomal mutation
 1 in 900 people born with this
 Likelihood of having a child with DS
increases with advancing maternal age
 Symptoms: mental retardation, upward
slant to eyes, small mouth, abnormal ear
shape, decreased muscle tone
 No cure
Patau’s Syndrome &
Edward’s Syndrome
 Cardiac abnormalities
 Very severe conditions
 Most affected infants
die during first few
weeks of life
Deletion Disorders
 Angelman Syndrome

 Prader-Willi Syndrome
Angelman Syndrome
 Inappropriate
laughter with
convulsions
 Poor
coordination
 Mental
retardation
Prader-Willi Syndrome

Extremely floppy
Obesity (constantly
hungry)
Mild mental
retardation
Sex Chromosome Disorders
 Klinefelter’s Syndrome

 Turner’s Syndrome

 Fragile X Syndrome
Klinefelter’s Syndrome
 47, XXY
 1 in 1000 male live births
 Mild learning difficulties
 Taller than average with
long lower limbs
 Show mild enlargement of
breasts
 Infertile (absence of
sperm)
 Treat with testosterone
Turner’s Syndrome

 45, X
 Low incidence
 Look normal
 Ovarian failure
 Normal intelligence
 Short stature
 Estrogen therapy
Fragile X Syndrome
 Most common inherited
cause of mental
retardation
 1 in 2000 males
 High forehead,
prominent jaw, autism
 Gap in X chromosome
Single Gene Disorders
 Cystic Fibrosis

 Hemophilia

 Sickle Cell Anemia

 Phenylketonuria
Cystic Fibrosis (CF)
 Recessive disorder
 Mutation stops production of
protein in lung cells,
pancreas
 Thick mucus, bacterial
infections in lung
 “sweat test”
 Most common in
Caucasians (1 in 3300)
 Chest percussions, diet
supplements
 Shortened life expectancy
Hemophilia

 Sex-linked
 Failure of blood to clot
 Rare in females
 Injections with clotting factors to stop
bleeding episodes
 $350,000 a year in treatment
Sickle Cell Anemia
 Mutation in blood protein
 “sickle” shape to RBC
 Screening tests
 Most common in African-Americans
(1 in 375)
 Pain associated with blocked vessels, causes
anemia (fatigue)
 Common where
mosquito-borne
malaria is present
PKU
 Mutation disrupts function of enzyme
 Leads to high phenylalanine levels in brain
(poisons)
 Mental retardation, epilepsy
 Screening newborns (heel prick)
 1 in 10,000 Caucasian births
 Extremely rare in African-Americans
 Look normal
 Need low-protein diet,
smelly formulas
Self Quiz:
Quick Check for Understanding
 1. Which of the following is an X-linked
disorder?
 A. Angelman B. hemophilia c. Down syndrome
 2. How is PKU tested for?
 A. amniocentesis b. heel prick c. X-ray
 3. How are CF patients treated?
 A. testosterone injections b. chest percussions
 4. Turner’s Syndrome is
 A. 45, X b. 46, XX c. 47, XXY
 5. Patients with Klinefelter’s Syndrome are
 A. all male b. all female c. male or female

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