MUTATION

✓ Any permanent heritable change in the DNA base sequence of an organism

✓ Has the potential to change the base sequence of mRNA and the amino acid
sequence of proteins.

CHROMOSOMAL MUTATIONS
Deletion loss of all or part of a chromosome
Duplications production of extra copies of parts on
the chromosome
Translocation a piece of one chromosome breaks
off and attaches to another
chromosome
Inversion occurs when a segment breaks off and
reattaches within the same
chromosome, but in reverse
orientation.
MUTATION
NONDISJUNCTION - when homologous chromosomes fail to separate properly
during meiosis resulting in abnormal numbers of chromosomes.

Monosomy Turner syndrome (X monosomy) (45, X0) - Complete loss of an

entire X chromosome.
Autosomal Down syndrome (trisomy 21)
trisomy Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)
Sex chromosome Klinefelter syndrome ( XXY) – most common; cause of
aneuploidy hypogonadism and infertility in men.
XYY Male ( XYY)
Trisomy X (XXX) - females have three instead of two X
chromosomes.
Uniparental Prader-Willi syndrome and Angelman syndrome.
disomy
Mosaicism Affected individuals may have a patchy or asymmetric
syndromes appearance.
Mosaicism in malignant transformation - Cancer
TURNER’S SYNDROME
- affects only females
- results when one of the X chromosomes (sex chromosomes) is
missing or partially missing.
- short height, failure of the ovaries to develop and heart defects.
EDWARD SYNDROME
- has 3 copies of chromosome number 18 instead of 2.
- AKA Trisomy 18
Patau Syndrome
- has 3 copies of chromosome number 13 instead of 2.
- AKA Trisomy 13 or BARTHOLIN SYNDROME
- severe intellectual disability and physical abnormalities in many parts of the body.
- heart defects, brain or spinal cord abnormalities, very small or poorly developed
eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with
or without an opening in the roof of the mouth (a cleft palate), and weak muscle
tone (hypotonia).
Klinefelter syndrome
- (47, KS, or XXY) – most common;
cause of hypogonadism and
infertility in men.
- boys and men are born with an
extra X chromosome.
XYY Male ( XYY) – JACOB SYNDROME
Trisomy X (XXX)
- Superfemales
- Meta Females
- Triple X Syndrome
- females have three instead of two
X chromosomes.
Mosaicism syndrome
- Symptoms
✓ slower speech.
✓ lower IQ.
✓ a flattened face.
✓ small ears.
✓ shorter height.
✓ eyes that tend to
slant up.
✓ white spots on the iris
of the eye.
Gene Mutation
1. POINT MUTATION Change in the nucleotide sequence of a gene ; may
only involve a single nucleotide ; due to copying
errors, chemicals, viruses.
• Transitional a purine substitutes a purine or a pyrimidine
substitutes a pyrimidine
• Transversional a purine substitutes for a pyrimidine or a pyrimidine
substitutes for a purine
✓ Silent mutation in a codon to one that encodes a different
amino acid
✓ Missense mutation in a codon to one that encodes the same
amino acid
✓ Nonsense mutation an amino-acid coding codon to a “stop”
codon
2. FRAME SHIFT a type of mutation involving the insertion or deletion
MUTATION of a nucleotide in which the number of deleted base
pairs is not divisible by three.
METABOLIC DISEASES
STARVATION Condition that develops when the body is starved for glucose during
prolonged fasting or starvation
KETOACIDOSIS
A pituitary disorder that directly affects kidney function, NO unusual level of
DIABETES INSIPIDUS glucose in urine is observed
Beta cells of the pancreas are damaged, NO insulin is produced, condition is
IDDM controlled by the daily injections of insulin
Normal amounts of insulin is produced; either it is NOT released fast
TYPE 2 DM enough when the blood sugar rises or the target tissues have a reduces
responsiveness
A neuro-psychiatric disorder that arises from a lack of thiamine in the diet,
WERNICKE- poor absorption of thiamine form the gut, or poor storage of thiamine in the
KORSAKOFF liver.
NEURAL TUBE Deficiency in folate derivatives during the early pregnancy because of the
important role of these derivatives in the synthesis of DNA precursors
DEFECT
SEVERE COMBINED This pathological condition results from the absence of adenosine
deaminase, an enzyme in the purine degradation pathway
IMMUNODEFICIENCY
(SCID)
A disease that is associated with an excessive accumulation of monosodium
GOUT urate crystals
A disease caused by the absence of hypoxanthine guanine phosphoribosyl
LESCH-NYHAN transferase (HGPRT) that is essential for the metabolism of purines; leads to
SYNDROME self-mutilation, mental deficiencies and gout.