Week 3

Question 1

Huntington disease Clinical Presentation

Answer 1

-Choreiform, Ataxia, Dysarthia

Question 2

Huntington disease Pathogenesis

Answer 2

-Trinuclotide repeat in the coding region Exon-1 on 4p16.3, Autosomal dominate fashion

Question 3

Fragile X Syndrome Clinical presentation

Answer 3

-Congnitive/ Development impairments, Large head, long face, prominent forehead and chin, protruding ears, macroorchidism

Question 4

Fragile X Syndrome Pathogenesis

Answer 4

-Trinuclotide expansion in the Promoter Region, causing Hypermethylation and increased compaction of the Histones

Question 5

Friedrich Ataxia Clinical Presentation

Answer 5

-Ataxia, Hypertrophic Cardiomyopathy, Dysmetria, Pes Cavus, Spinal cord disruptions/problems

Question 6

Friedrich Ataxia Pathogenesis

Answer 6

• Expansion repeat in the Intron of the gene on Chromosome 9

- Autosomal recessive

Question 7

Myotonic Dystrophy Clinical Presentation

Answer 7

-Slow Growth, Development delay, Myopathic face, Tenting of the upper lip, Myotonia, Cataracts

Question 8

Myotonic Dystrophy Pathogenesis

Answer 8

• expansion repeat in Chromosome 19 [3’ UTR] or 3 [Intron], depending on if it is Type I/II,
• Repeat acts like a sponge tying up the machinery

Question 9

Anencephaly Clinical Presentation

Answer 9

• Forebrain, vault of skull, skin are absent
• stillborn
• 2/3 female

Question 10

Anencephaly Pathogenesis

Answer 10

-Defect in Anterior neural tube closer

Question 11

Spinabifida Clinical presentation

Answer 11

-Meningomyeocele, protrusion of neural tissue out of the spine

Question 12

Spinabifida Pathogenesis

Answer 12

• Is a problem with failure of fusion of the arches of the vertebrate
• is also related to [Folate]`

Question 13

Qualitative Traits

Answer 13

Disease or not

Question 14

Quanitative Traits

Answer 14

A measurable quantity

Question 15

Discordance vs Concordance

Answer 15

Non-Genetic factors - Strong Genetic Factors

Question 16

4 types of molecular therapeutics

Answer 16

1) Gene product Augmentation
2) Gene Replacement
3) Gene Correction
4) Gene Expression change

Question 17

Gene Product Augmentation Goal

Answer 17

• To synthesize the protein externally and introduce it back into the body
• not a permanent solution*

Question 18

Adenovirus Vector Treatment Advantages

Answer 18

Large payload, Can infect respiratory epithelia

Question 19

Adenovirus Vector Treatment Disadvantages

Answer 19

High immune response, Not Stable

Question 20

Lentiviral Vector Advantages

Answer 20

Stably integrated, independent expression, large payloads

Question 21

Lentiviral Vector Disadvantages

Answer 21

Possible Oncogenesis, and insertional mutagenesis due to it “jumping” around.

Question 22

SCIDS Pathogenesis

Answer 22

Defective Adenosine Deaminase causing build up of Deoxyadenosine which leads to conversation of S-Adenosylhomocystine (which kills B/T cells)

Question 23

Prader-Willi syndrome Clinical presentation

Answer 23

-Hypotonia, Cryptochidism, Feeding poorly, Hypothalamic dysfunction, Obesity, Cognitive impairment, Short Stature

Question 24

Prader-Willi syndrome Pathogenesis

Answer 24

Paternal Deletion on 15q11-13 while the mothers is Imprinted

Question 25

Angelman Syndrome Clinical presentation

Answer 25

-severe mental retardation ataxic gaid, spontaneously happy, “happy puppet syndrome”

Question 26

Angelman syndrome Pathogenesis

Answer 26

Maternal deletion on UBE3 gene while the fathers is imprinted

Question 27

Malformation vs Deformation vs Disruption

Answer 27

• Intrisic Abnormalities that cause a Dx
• External force in the 2nd/3rd TriM that cause Dx
• Problem of mechanical problems in the fetus that lead to secondary problems

Question 28

Syndrome vs sequence vs Anomaly

Answer 28

• Linked to genetics
• Single problem causes 2nd problem
• Departure from normal

Question 29

Tuberous Sclerosis Clinical presentation

Answer 29

-Harmatomas, Cardiac rhabdomyoma, Ash Leaf Spots, Facial Angiofibromas, Ungual Fibroma

Question 30

Waardenburg Syndrome Clinical Presentation

Answer 30

-Heterochromia, Hypertelorism, White Forlock, deafness

Question 31

Waardenburg syndrome Pathogenesis

Answer 31

Problems with the Pax3 gene

Question 32

Hirschsprand Disease Presentation

Answer 32

-Patient has Aganglionic Megacolon