CONCEPT MAP OF GENETIC DISORDERS (most of this info is also

in your notes. Some information is added here so you can

understand examples of each category. If you don’t see a
disease in your notes, you won’t have to know it for the exam.) Genetic Disorders
Two categories—chromosomal
aberrations & single gene disorders
Chromosomal aberrations
Key characteristics (KC): Single gene disorders (next page)
• one or more chromosomes damaged
• often caused by clastogens such as xrays, drugs,
viruses, free radicals Alterations in structure
• 2 sub-categories: KC:
o alterations in number (aneuploidy) • when parts of chromosomes are deleted, duplicated, or rearranged
o alterations in structure • one type of rearrangement is called translocation
• an example of translocation-- Philadelphia chromosome

Alterations in number (aneuploidy)

KC:
• caused by non-disjunction—failure to divide properly Philadelphia chromosome → CML
KC:
• non-disjunction results in too few chromosomes (45) or too
many (47) • results from translocation
• part of a particular chromosome “breaks off” & attaches to
another
• the left over, deformed, piece is known as the Philadelphia
too few-- too many--
chromosome
monosomy polysomy
• if a person has this chromosome, will more likely have
CML—chronic myelocytic leukemia
Turner’s Syndrome Trisomy 21 (Down’s syndrome) • CML occurs because the genes on the once-healthy
KC: KC: chromosome control WBC production—now those genes
• presence of only •21st chromosome set has 3 damaged→ WBC production “goes crazy” in bone marrow→
45 chromosomes instead of two & this causes huge number of WBCs in blood (leukocytosis)→ diagnosis of
—one X instead of XX malfunction of the genes that leukemia.
code for normal development .
S&S (phenotype):
• mental retardation
• epicanthic fold
• short limbs
• large tongue
 Single gene disorders
KC:
• caused by mutations in single
set of alleles
• since genes code for protein
production, a mutated gene
will code for malformed
protein product
• product malfunctions→
disease / disorder
• 3 categories of disorder—
autosomal recessive,
autosomal dominant, sex-
linked
KC:
Sex-linked disorders
KC:
• the diseased gene is recessive &
the normal gene is dominant
• the diseased gene is usually
found on the X chromosome
• a male will have the disease if
his X chromosome has the
mutated gene
• a woman will have the disease
only if BOTH of her X
chromosomes have the mutated
gene
Autosomal recessive disorders Sickle cell anemia
KC: • recessive mutated gene codes for
abnormally shaped Hgb→ makes RBCs
• most common genetic disease
sickle- shaped
category
• the diseased gene is recessive & the
normal gene is dominant
• a person will have the disease only if RBCs become
decreased O2- sickled & get RBCs become
he gets two recessive genes, ie has a carrying capacity destroyed more sickled &
homozygous recessive genotype (ss). of abnormal Hgb easily→ less RBCs→ cannot flow to
• Ss = heterozygous = carrier. anemia (the tissues very
condition of having well
too few RBCs)
Autosomal dominant disorders
S&S: joint pain & other
S&S: shortness of tissue pain from O2
• the diseased gene is dominant & the breath (SOB) & deprivation (ischemia)
normal gene is recessive fatigue.
• a person will have the disease if he has
either homozygous or heterozygous
genotype
Huntington’s disease
• dominant mutated gene codes for
degeneration of basal ganglia
Hemophilia
• recessive mutated gene on the X
chromosome codes for
abnormally developed or
complete lack of certain S&S: abnormal
coagulation factors movements, dementia.
S&S: easy bleeding; often
has joint pain from blood
collecting there after
minor traumas.