Genetic Diseases Flashcards
what is the name of a substance that can genetically alter the embryo/fetus? give five examples
teratogen
radiation, pollution, drugs, chemicals, infections (especially viruses like zika)
what is it called when all it takes is one mutant gene to affect the offspring?
autosomal dominant
if one parent has the autosomal dominant mutant gene, what are the chances that the child will become affected?
50%
what is it called when there is a genetic problem with growth factor that causes cartilage abnormality? is this autosomal dominant or recessive?
achondroplasia
dominant
people with achondroplasia tend to have proportional or disproportional growth?
disproportional
what are some physical features and symptoms of achondroplasia?
enlarged forehead and large head
disproportional growth
bowed legs
susceptible to arthritis because the cartilage isn’t protecting the joints
What causes the autosomal (________) disease called Huntington’s Disease aka (______)?
dominant
Chorea
gene causes degeneration of basal ganglia (which are responsible for movement) and later holes in all of cerebral cortex and will develop full cognitive decline
what are the basal ganglia responsible for?
motor control
what is the cerebral cortex responsible for?
consciousness, thought, language, emotion, reasoning, and memory
when does huntington’s chorea/disease typically start to manifest s/s?
30-50 years old
what are some s/s of huntington’s chorea/disease?
irritability
quick, sudden, purposeless, jerking movements
progressive cognitive decline
what’s it called when a defect on chromosome 15 causes defective protein (fibrillin) in the connective tissue? is it autosomal dominant or recessive?
marfan’s syndrome
dominant
marfan’s syndrome affects the connective tissue of which tissues the most? how does this make their bodies look?
bone
heart
eyes
blood vessels
long, with longer wingspan than height
what are people with marfan’s syndrome prone to?
dislocations, hernias, chest wall abnormalities, spinal deformities
eye detachment and retinal dislocation
valve prolapse in heart
aneurysm in veins
how many copies of a gene does a person need to get in order to have an autosomal recessive disorder?
two!
if both parents are carriers (have one copy) of an autosomal recessive trait, what are the chances of the child showing symptoms of it?
25%
if both parents have an autosomal recessive condition, what are the chances that the child will have the condition?
100%
if only one parent is the carrier of an autosomal recessive disease, what is the chance that the child will have the condition?
0%
(_____) is an autosomal (_______) disease in which the liver cannot make the enzyme phenylalanine hydroxylase
phenylketonuria
recessive
if the liver cannot convert phenylalanine into tyrosine, what happens?
progressive brain damage
(_______) is an autosomal (________) disease in which the person has no enzyme tyrosinase, which is necessary to make (_______)
albinism
recessive
melanin
what are some s/s of albinism?
no pigment in skin, hair, eyes.
susceptible to sunburn
(______) cells line the surfaces of your body
epithelial
epithelial cells are found on the
skin
blood vessels
urinary tract
organs
(__________) is an autosomal recessive disease that affects the (__) channels on epithelial cells. This causes abnormal transport of (__) and (__) ions across epithelium
cystic fibrosis
Cl-
Cl- and Na+
Cystic fibrosis mainly affects these five things:
sweat glands respiratory system GI tract Pancreas Male reproductive system
how does cystic fibrosis affect sweat glands?
very salty sweat
how does cystic fibrosis affect sweat glands?
very salty sweat
how does cystic fibrosis affect the respiratory system?
the airways become clogged with very sticky mucus
this leads to SOB, chest pain, coughing, and can’t fight off infections very well
chronic inflammation
the heart can become hypoxic
how does cystic fibrosis affect the pancreas and GI?
thick secretions block GI, leading to inability to absorb nutrients. This leads to pain, gas, bloating, diarrhea, constipation, and inability to gain weight
how does cystic fibrosis affect the male reproductive system?
some males are born without vas deferens
Do men or women tend to get X linked recessive disorders more?
men
list three x-linked recessive genetic disorders
fragile x syndrome
hemophilia a
duchenne muscular dystrophy
fuck him, dykes
list three autosomal dominant disorders
achondroplasia
huntington’s
marfan’s syndrome
“ahm” pronounced “ahem” because it’s in the front
osteogenesis imperfecta
list three autosomal recessive disorders
phenylketonuria
albinism
cystic fibrosis
in the “pac” like, in the “back”
(_________) is when the long arm of the X chromosome is abnormal, and cant code the proper protein for brain development
fragile X syndrome
As people move into adulthood with fragile X syndrome, the ears get (__________), the face gets (________), and they lose their presence of (______)
everted
long
shen
(__________) is an X-linked recessive disorder in which there is a deficiency of (____________)
hemophilia A
clotting factor VIII
(________________) is an x-linked recessive disorder in which the gene can’t code for a muscle protein called (________). It starts to show up around age (__), and the muscles have atrophied to the point where the patient can’t walk by age (__)
duchenne muscular dystrophy
dystrophin
6
12
If a child with duchenne’s muscular dystrophy widens their stance in order to stand up, this is called:
Gower’s sign
list the multifactorial inheritance disorders
cleft lip/palate club foot certain cancers congenital hip dislocation hypertension high cholesterol
What is aneuploidy?
anything other than 46 chromosomes
list three examples of aneuploidy
Trisomy 21 (down syndrome)
Turner syndrome
Kleinfelter syndrome
Try 21 Turning Keys
Any problem with chromosome (__) can cause (________) or (_________)
21
trisomy 21
Down syndrome
As the mother gets older, there is a higher risk of child having down syndrome?
yes
(________) is when a person only has 45 chromosomes. Which chromosome are they missing in whole or part?
THIS WILL BE ON COMPS
Turner’s syndrome
either whole or partial deletion of x chromosome
what is the phenotype of turner’s syndrome?
they appear to be female nonfunctional ovarian "streaks" short stature with webbed neck lack of female hormones dry vaginal canal no pubic hair or breast development bone issues lymphadema of hands and feet
(____________) is when a person has 47 chromosomes. What is the person’s genotype?
THIS WILL BE ON COMPS
Kleinefelter syndrome
XXY
What is the phenotype for kleinefelter syndrome?
they appear as male
however, they have small, nonfunctioning testes that don’t produce enough testosterone so they have
small adam’s apple and high pitched voice
female pubic hair distribution
breast tissue
lack of muscle development
long legs, wide hips
what is spina bifida and what can cause it?
spinal cord, meninges, and fluid are exposed through a gap in baby’s back bone
caused by folic acid deficiency in pregnant mother
what are the meninges? name the three layers from external to internal
three layers of membranes that cover and protect the brain and spinal cord
dura mater
arachnoid mater
pia mater
anencephaly and encephalocele can be caused by?
folic acid deficiency in pregnant mother
