Genetic Diseases

Question 1

what is the name of a substance that can genetically alter the embryo/fetus? give five examples

Answer 1

teratogen

radiation, pollution, drugs, chemicals, infections (especially viruses like zika)

Question 2

what is it called when all it takes is one mutant gene to affect the offspring?

Answer 2

autosomal dominant

Question 3

if one parent has the autosomal dominant mutant gene, what are the chances that the child will become affected?

Answer 3

50%

Question 4

what is it called when there is a genetic problem with growth factor that causes cartilage abnormality? is this autosomal dominant or recessive?

Answer 4

achondroplasia

dominant

Question 5

people with achondroplasia tend to have proportional or disproportional growth?

Answer 5

disproportional

Question 6

what are some physical features and symptoms of achondroplasia?

Answer 6

enlarged forehead and large head
disproportional growth
bowed legs
susceptible to arthritis because the cartilage isn’t protecting the joints

Question 7

What causes the autosomal (________) disease called Huntington’s Disease aka (______)?

Answer 7

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

Question 8

what are the basal ganglia responsible for?

Answer 8

motor control

Question 9

what is the cerebral cortex responsible for?

Answer 9

consciousness, thought, language, emotion, reasoning, and memory

Question 10

when does huntington’s chorea/disease typically start to manifest s/s?

Answer 10

30-50 years old

Question 11

what are some s/s of huntington’s chorea/disease?

Answer 11

irritability
quick, sudden, purposeless, jerking movements
progressive cognitive decline

Question 12

what’s it called when a defect on chromosome 15 causes defective protein (fibrillin) in the connective tissue? is it autosomal dominant or recessive?

Answer 12

marfan’s syndrome

dominant

Question 13

marfan’s syndrome affects the connective tissue of which tissues the most? how does this make their bodies look?

Answer 13

bone
heart
eyes
blood vessels

long, with longer wingspan than height

Question 14

what are people with marfan’s syndrome prone to?

Answer 14

dislocations, hernias, chest wall abnormalities, spinal deformities
eye detachment and retinal dislocation
valve prolapse in heart
aneurysm in veins

Question 15

how many copies of a gene does a person need to get in order to have an autosomal recessive disorder?

Answer 15

two!

Question 16

if both parents are carriers (have one copy) of an autosomal recessive trait, what are the chances of the child showing symptoms of it?

Answer 16

25%

Question 17

if both parents have an autosomal recessive condition, what are the chances that the child will have the condition?

Answer 17

100%

Question 18

if only one parent is the carrier of an autosomal recessive disease, what is the chance that the child will have the condition?

Answer 18

0%

Question 19

(_____) is an autosomal (_______) disease in which the liver cannot make the enzyme phenylalanine hydroxylase

Answer 19

phenylketonuria

recessive

Question 20

if the liver cannot convert phenylalanine into tyrosine, what happens?

Answer 20

progressive brain damage

Question 21

(_______) is an autosomal (________) disease in which the person has no enzyme tyrosinase, which is necessary to make (_______)

Answer 21

albinism
recessive
melanin

Question 22

what are some s/s of albinism?

Answer 22

no pigment in skin, hair, eyes.

susceptible to sunburn

Question 23

(______) cells line the surfaces of your body

Answer 23

epithelial

Question 24

epithelial cells are found on the

Answer 24

skin
blood vessels
urinary tract
organs

Question 25

(__________) is an autosomal recessive disease that affects the (__) channels on epithelial cells. This causes abnormal transport of (__) and (__) ions across epithelium

Answer 25

cystic fibrosis Cl- Cl- and Na+

Question 26

Cystic fibrosis mainly affects these five things:

Answer 26

``` sweat glands respiratory system GI tract Pancreas Male reproductive system ```

Question 27

how does cystic fibrosis affect sweat glands?

Answer 27

very salty sweat

Question 28

how does cystic fibrosis affect sweat glands?

Answer 28

very salty sweat

Question 29

how does cystic fibrosis affect the respiratory system?

Answer 29

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

Question 30

how does cystic fibrosis affect the pancreas and GI?

Answer 30

thick secretions block GI, leading to inability to absorb nutrients. This leads to pain, gas, bloating, diarrhea, constipation, and inability to gain weight

Question 31

how does cystic fibrosis affect the male reproductive system?

Answer 31

some males are born without vas deferens

Question 32

Do men or women tend to get X linked recessive disorders more?

Answer 32

men

Question 33

list three x-linked recessive genetic disorders

Answer 33

fragile x syndrome hemophilia a duchenne muscular dystrophy fuck him, dykes

Question 34

list three autosomal dominant disorders

Answer 34

achondroplasia huntington's marfan's syndrome "ahm" pronounced "ahem" because it's in the front osteogenesis imperfecta

Question 35

list three autosomal recessive disorders

Answer 35

phenylketonuria albinism cystic fibrosis in the "pac" like, in the "back"

Question 36

(_________) is when the long arm of the X chromosome is abnormal, and cant code the proper protein for brain development

Answer 36

fragile X syndrome

Question 37

As people move into adulthood with fragile X syndrome, the ears get (__________), the face gets (________), and they lose their presence of (______)

Answer 37

everted long shen

Question 38

(__________) is an X-linked recessive disorder in which there is a deficiency of (____________)

Answer 38

hemophilia A | clotting factor VIII

Question 39

(________________) 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 (__)

Answer 39

duchenne muscular dystrophy dystrophin 6 12

Question 40

If a child with duchenne's muscular dystrophy widens their stance in order to stand up, this is called:

Answer 40

Gower's sign

Question 41

list the multifactorial inheritance disorders

Answer 41

``` cleft lip/palate club foot certain cancers congenital hip dislocation hypertension high cholesterol ```

Question 42

What is aneuploidy?

Answer 42

anything other than 46 chromosomes

Question 43

list three examples of aneuploidy

Answer 43

Trisomy 21 (down syndrome) Turner syndrome Kleinfelter syndrome Try 21 Turning Keys

Question 44

Any problem with chromosome (__) can cause (________) or (_________)

Answer 44

21 trisomy 21 Down syndrome

Question 45

As the mother gets older, there is a higher risk of child having down syndrome?

Answer 45

yes

Question 46

(________) is when a person only has 45 chromosomes. Which chromosome are they missing in whole or part? THIS WILL BE ON COMPS

Answer 46

Turner's syndrome | either whole or partial deletion of x chromosome

Question 47

what is the phenotype of turner's syndrome?

Answer 47

``` 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 ```

Question 48

(____________) is when a person has 47 chromosomes. What is the person's genotype? THIS WILL BE ON COMPS

Answer 48

Kleinefelter syndrome | XXY

Question 49

What is the phenotype for kleinefelter syndrome?

Answer 49

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

Question 50

what is spina bifida and what can cause it?

Answer 50

spinal cord, meninges, and fluid are exposed through a gap in baby's back bone caused by folic acid deficiency in pregnant mother

Question 51

what are the meninges? name the three layers from external to internal

Answer 51

three layers of membranes that cover and protect the brain and spinal cord dura mater arachnoid mater pia mater

Question 52

anencephaly and encephalocele can be caused by?

Answer 52

folic acid deficiency in pregnant mother