Fundamentals 1

Question 1

Human Immunodeficiency Virus

Answer 1

HIV attacks T cells DNA

depleted immune sys can tx w/ AZT, test w/ PCR

Question 2

Aging

Answer 2

no more telomerase

Question 3

Retinoblastoma

Answer 3

RB cycle inhibitor lost

tumors on retina

Question 4

Wasting Syndrome

Answer 4

uncontrolled cdk/cell cycle

Question 5

Turner’s Syndrome

Answer 5

female w/ one X

Question 6

Down’s Syndrome

Answer 6

trisomy 21

Question 7

Dyskeratosis Congenita

Answer 7

bad telomeres

bad epithelia, premature aging, Affected individuals often have fingernails and toenails that grow poorly or are abnormally shaped. They also often have changes in skin coloring

Question 8

Hutchinson-Gilford progeria syndrome (HGPS)

Answer 8

lamina A attached to nuclear membrane

Early aging

Question 9

Emery-Dreifuss Muscular Dystrophy (EMD1)

Answer 9

no lamin/emerin attach

SRF (key regulator of muscle gene transcription) - muscle wasting, heart problems

Question 10

Dilated Cardiomyopathy

Answer 10

lamin

Question 11

Familial Partial Lipodystrophy

Answer 11

lamin

Question 12

Limb-girdle Muscular Dystrophy

Answer 12

lamin

Question 13

Sickle Cell Anemia

Answer 13

missense where glu->val on Beta globin
Autosomal recessive

Aggregates with a lost ability to carry blood

Question 14

Major (Beta -0) Thalassemia

Answer 14

nonsense mutation in Beta globulin

Question 15

Constant Spring

Answer 15

missense where stop ->Gln on Alpha globin

Question 16

Benzopyrene

Answer 16

toxin, tobacco smoke

DNA defect at Guanine

Question 17

Xerodoma Pigmentosum

Answer 17

UV irradiation or alkylation of DNA (helicase, endonuclease, exonuclease) NER – Nucleotide Excision Repair

UV sensitivity

Question 18

Lynch Syndrome: Hereditary Non-Polyposis Colorectal Cancer

Answer 18

mutation of MutS or MutL (bad MMR)

Autosomal Dominant

Question 19

Mononucleosis

Answer 19

Epstein Barr Virus

tested by looking for proteins or DNA (FISH/CISH)

Question 20

Mosaic

Answer 20

non-disjuction at mitosis

Question 21

69 XXX or 69 XXY

Answer 21

2 sperm (diandric) or 2n egg (digynic)

Question 22

Patau’s Syndrome

Answer 22

Trisomy of 13

Question 23

Edward’s Syndrom

Answer 23

Trisomy of 18

Question 24

Triple-X

Answer 24

XXX non-disjunction in Meiosis

Question 25

Klinefelter's Syndrome

Answer 25

XXY

Question 26

Angelman

Answer 26

microdeletion of 15q11 from mom

Question 27

Prader Willi

Answer 27

microdeletion of 15q11 from dad

Question 28

Cystic Fibrosis

Answer 28

genetic disease w/ heterozygote advantage

Question 29

Myatonic Distrophy

Answer 29

A dom, anticipation and triplet repeat

Question 30

Neurofibromitosis

Answer 30

NF-1 cell signaling

Question 31

Lung and other cancer

Answer 31

TP53 genomic integrity

Question 32

Colon/rectal cancer

Answer 32

APC - cell signaling HNPCC - dna repait

Question 33

Multiple Myeloma

Answer 33

monoclonal antibodies inc, lesions on bone marrow and bence jones protein in urine

Question 34

metabolic syndrome

Answer 34

obesity + insulin resistance + hyperlipidemia

Question 35

juvenile-onset Huntington's disease

Answer 35

10% of HD cases have onset < 20 y/o, more likely if mutation inherited from father because of increased repeat expansion Nuerodegenerative disorder -- autosomal dominant -- thus can be tested via predictive genetic testing

Question 36

Beckwith-Wiedemann syndrome

Answer 36

increased risk of childhood cancers (Wilm's tumor, hepatoblastoma); 4 different genetic mechanisms with different cancer risks there is a clinical genetic test

Question 37

Autoimmune

Answer 37

failure of self-tolerance

Question 38

Burkitt's Lymphoma

Answer 38

translocation of 8/14 puts C-myc next to enhancer