diseases

Question 1

Myotonic Dystrophy 1

Answer 1

CTG or (CUG) n>50 increased RNA binding proteins results in impaired RNA splicing

Question 2

Wiskott-Aldrich syndrome

Answer 2

Patients deficient in Wasp immunodeficiency where immune system cells have abnormal actin based motility, defective platelet formation

Question 3

PKU

Answer 3

autosomal recessive high levels of phenylaalnie/ deficient in phenyaline hydroxylase
PKU is treated by restriction of phenylalanine in diet.

Question 4

maple syrup urine

Answer 4

high levels of branched chain amino acids

Question 5

Friedreich ataxia

Answer 5

GAA n>200 impaired transcriptional elongation =loss of frataxian function increased Fe in mitochondria loss of heme synthesis messes up Fe-S proteins

Question 6

incomplete penetrance

Answer 6

don’t display gene phenotype but still carry bad gene

Question 7

FGFR3 mutation gain of function=

Answer 7

dwarfism

Question 8

cerebral edema

Answer 8

NH3 ammonia

Question 9

Hypercholesteremia and Antherosclerosis

Answer 9

absence of LDL receptors

Question 10

Hypertrophic cardiomyopathy (HCM)

Answer 10

dominant mutation in the MYBPC3 gene corrected with crisper

Question 11

Anteriormost paraxial mesoderm

Answer 11

forms the head mesoderm

Question 12

Myotonic Dystrophy 2

Answer 12

CCTG or (CCUG) n>75 increased RNA binding proteins results in impaired RNA splicing

Question 13

endoderm

Answer 13

Gut tube= thymus lung pancreas prostate GI tract liver thyroid

Question 14

missense mutation

Answer 14

one amino acid for another

Question 15

Anencephaly

Answer 15

failure of cranial neural tube to close between day 23-25 little to no cerbrum

Question 16

Intermediate mesoderm

Answer 16

Kidney Gonads

Question 17

The parietal layer will differentiate into

Answer 17

The parietal layer will differentiate into the sternum, dermis of the body wall, parietal pleura and peritoneum, and bones/connective tissues of the limbs.

Question 18

Huntingtons disease

Answer 18

CAG n>36 (40) increased promiscous protein and protein interactions with transcription factors

Question 19

collagin creation

Answer 19

need prolyl hydroxylase in order to from mature colligen this needs vitamin C

Question 20

chorda mesoderm

Answer 20

notochord=intervertabral disc

Question 21

spina bifida

Answer 21

failure of caudal neural tube to close

Question 22

ectoderm

Answer 22

surface=epidermis neural=neural tube=spinal cord/brain neural crest=PNS head mesychyme

Question 23

Pleiotropism

Answer 23

single mutant gene may result in varied phenotypical outcomes/affects multiple organ systems

Question 24

Encephalocele

Answer 24

Failure of the cranial neuropore to close between days 23–25. Can affect the anterior or posterior skull.

Question 25

paraxial mesoderm

Answer 25

head/ somite=cartialidge, skeletal muscle (myotome) tendons(syndetome) endothilial cells (dorsal aorta), dermotome (dermis)

Question 26

Fragile X syndrome

Answer 26

CGG n>200 transcriptional silencing loss of function | n60-200=2-5 fold increase of FMR1 mRNA leads to neuronal intranuclear inclusion

Question 27

Variable expressivity

Answer 27

varying degree of the genotypic phenotype of the disease being expressed

Question 28

marfan syndrome

Answer 28

effects connective tissue/lysyl oxidase messes up fribrilin microfuilaments

Question 29

• Holoprosencephaly

Answer 29

o Abnormality of development due to inaccurate midline formation ♣ SHH mutations, cholesterol metabolism defects o Presentation varies from mild changes in brain division and close set facial structures to o Most severe ♣ No division between left/right hemispheres of brain ♣ Cyclopia • One central eye ♣ Proboscis • Tubular nasal structure located above the eye ♣ Usually results in death before birth or soon after

Question 30

anticipation

Answer 30

development of disease at younger age or with more severity

Question 31

lateral plate mesoderm

Answer 31

circulatory system, body cavity, pelvis, limb bones, extra embryonic

Question 32

nonsense mutation

Answer 32

early stop codon

Question 33

The visceral layer will form

Answer 33

the walls of the gut tube (with endoderm), visceral pleura/peritoneum, cardiac muscle, and lung/tracheal cartilages and connective tissues.