Mutations and other genetic problems
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Transcript Mutations and other genetic problems
Mutations and other genetic
issues
Genetics Unit
Mutations
Changes in the genetic material.
Any deviation from the normal
chromosomal compliment
Two types:
Spontaneous mutations-occur randomly; no
cause can be determined
Induced mutations are caused by some
traceable artificial factor: exposure to
chemicals, alcohol, drugs, radiation
Mutations
Mutations that produce changes in a
single gene are gene mutations.
Mutations that produce changes in a
whole chromosome are chromosomal
mutations.
Gene Mutations
Point mutation-change in one or just a
few nucleotides. So named because it
occurs at a single point.
Substitutions
Deletions
Insertions
Gene Mutations
Frameshift mutation—shift the reading
frame of the genetic code
Can alter a protein so much that it can’t
perform its job.
Chromosomal Mutations
Involve a change in the number or
structure of the chromosome
Some change the location of some
genes on the chromosome
Some may change the number of copies
of some genes.
Chromosomal Mutations
Four main types of mutations:
Deletion
Duplication
Inversion
translocation
Deletion
The permanent loss of a segment of
chromosome
Can be found anywhere on the
chromosome
Can be caused by heat, radiation,
viruses, chemicals, errors
Deletion
Duplication
Doubles a segment of chromosome
Can be fatal
Can be caused by uneven crossing over
during meiosis or replication error before
meiosis
Duplication
Causes of abnormalities
Nondisjunction
The failure of the chromosome pairs to
separate during Meiosis I or Meiosis II
Result will be a zygote with too many or too
few chromosomes
Two types: Primary and secondary
nondisjunction
Primary Nondisjunction
Secondary Nondisjunction
Types of Genetics Tests
When trying to determine a genetic
problem, we can use non-invasive tests
such as
Pedigrees
Karyotypes
Pedigrees
A pedigree follows a specific trait through
several generations
Resembling a type of map, the pedigree
uses symbols to represent certain
elements
Pedigree key
Pedigree
Karyotypes
A photographic inventory of an
individual’s chromosomes
Can show the individual’s gender and
any abnormalities in chromosome
number or structure
Karyotypes
Karyotypes
Amniocentesis
An invasive test that obtains amniotic
fluid surrounding the fetus using a
needle
Amniocentesis Pros and Cons
Able to determine fetus’ gender and/or
any abnormalities
Can’t be done before 16th week of
pregnancy
Can cause infection to mother and/or
fetus
Can cause premature delivery and birth
Chorionic Villus Sampling (CVS)
CVS Pros and Cons
Can determine fetus gender and any
genetic abnormalities
Can be done after 10 weeks
Can cause leakage of amniotic fluid
Can cause premature labor and delivery
Recessive Disorders
Must be inherited from BOTH parents
Autosomal recessive disorders (non-sex
cells)
Tay-Sachs
PKU
Cystic fibrosis
Recessive Disorders
Tay-Sachs—lipid accumulation in the brain;
mental deficiency; blindness, death in early
childhood
PKU-phenylketonuria—accumulation of
phenylalanine in tissues; lack of normal skin
pigment; mental retardation
Cystic fibrosis—excess mucus in lungs,
digestive tract, liver; increased susceptibility to
infections; often die young
Dominant Disorders
Can get the disorder by inheriting only
one dominant allele
Huntington’s disease
Achondroplasia
Dominant Disorders
Huntington’s Disease
Mental deterioration and uncontrollable
movements
Doesn’t appear until middle age
Achondroplasia
One form of dwarfism
Sex Linked Disorders
Is there a pattern of inheritance for genes
located on the X or Y chromosome? YES
especially on the X
Many times it is male children that inherit
these disorders from their mothers because . .
. They inherit their X from their mom’s
Many sex linked genes are on the X
Colorblindness
Hemophilia
Duchenne Muscular Dystrophy
Sex Linked Disorders
Colorblindness
Most often found in males
1 in 10 males
Females have to inherit from both parents
1 in 100 females
Most common is red-green colorblindness
Sex Linked Disorders
Hemophilia
Two genes on the X chromosome control
blood clotting
Many times it is male children that inherit
this from their mom’s X chromosome
1 in 10,000 males
A bleeding disorder; can cause death in
severe cases
Sex Linked Disorders
Duchenne Muscular Dystrophy
1 in 3000 males
Progressive weakening and loss of skeletal
muscle
Caused by defective version of gene that
codes for a muscle protein
Genetic Disorders
Trisomy
Downs Syndrome (extra chromosome 21)
Edwards Syndrome (extra chromosome 18)
Patau Syndrome(extra chromosome 13)
Downs Syndrome (Trisomy 21)
Edwards Syndrome (Trisomy 18)
Patau Syndrome (Trisomy 13)
Turner’s Syndrome
Turner’s Karyotype
Klinefelter’s Syndrome