Deck 1

Question 1

What gene is associated with increased risk for DM Type 1?

Answer 1

HLA2 genes involved in antigen presentation.

Question 2

What genes are linked to early-onset alzheimer’s?

Answer 2

APP, Presenilin-1, Presenilin-2

Question 3

What genes are linked to late-onset alzheimer’s?

Answer 3

APEO, EP2 / EP4 (EP2 is protective)

Question 4

What is the inheritance pattern of osteogenesis imperfect?

Answer 4

autosomal dominant negative

Question 5

What causes achondroplasia?

Answer 5

gain of function mutation in FGFR3

Question 6

What causes fragile X

Answer 6

More than 200 CCG repeats on X chromosome

Question 7

What causes huntington’s?

Answer 7

Many copies of CAG repeat

Question 8

What is the inheritance pattern of hereditary retinoblastoma?

Answer 8

autosomal dominant (autosomal recessive at the cellular level)

Question 9

What is the inheritance pattern of muscular dystrophy?

Answer 9

X-linked recessive

Question 10

What is the inheritance pattern of achondroplasia?

Answer 10

autosomal dominant (gain of function mutation)

Question 11

What is the inheritance pattern of Alpha-1-antitrypsin deficiency?

Answer 11

autosomal recessive (increased risk of lung cancer and chronic liver problems)

Question 12

What is the inheritance pattern of myotonic dystrophy?

Answer 12

autosomal dominant (Triple repeat expansion)

Question 13

What is the inheritance pattern of osteogenesis imperfecta?

Answer 13

dominant negative

Question 14

What is a method of treating urea cycle disorders?

Answer 14

sodium benzoate with glycine shunts NH3 to hippurate which can be excreted in the urine.. Can also use phenylacetate with glutamine.

Question 15

What’s a method of treating beta thalassemia?

Answer 15

butyrate, helps rescue by up regulating HbF synthesis.

Question 16

What is Leber congenital amaurosis and how do you treat it?

Answer 16

congenital degenerative vision problem. Treat with aden-associated virus gene therapy. AR

Question 17

What is Prader-Willi syndrome and how is it inherited?

Answer 17

Low stature, intellectual disability, low muscle town - due to uniparental maternal disomy for a portion of chromosome 15.

Question 18

What is Angelman syndrome and how is it inherited?

Answer 18

neurogenetic disorder involving severe intellectual disability, seizures, sleep disturbances - due to uniparental paternal disomy, mirror image of prader-willi

Question 19

What do cytogenomic arrays detect?

Answer 19

copy number changes (won’t catch a paracentric inversion)

Question 20

Paracentric vs. pericentric - which inversion involves the centromere?

Answer 20

pericentric.

Question 21

What is the most common form of genetic hemoglobinopathy in individuals of italian ancestry?

Answer 21

beta thalassemia

Question 22

What is presymptomatic genetic testing?

Answer 22

genetic testing that determines whether an individual has inherited a gene mutation that exhibits age-dependent penetrance.

Question 23

What gene mutation is most likely to be associated with male breast cancer?

Answer 23

BRCA2

Question 24

What are the BRCA genes involved with?

Answer 24

DNA repair

Question 25

What is the major symptom of malignant hyperthermia

Answer 25

Crash during anesthesia involving certain trigger agents.

Question 26

What is the treatment for familial hypercholesterolemia?

Answer 26

cholestyramine (clears cholesterol through feces) + statin (blocks HMG CoA Reductase, rate limiting step of cholesterol production).

Question 27

What is the problem and how do you treat hereditary hemochromatosis?

Answer 27

iron overload - phlebotomy.

Question 28

How do you treat homocystinuria?

Answer 28

(methionine metabolism disorder) 1st line - treat with B6 (pyridoxine), cofactor for apoenzyme.

Question 29

What is a pseudogene?

Answer 29

nonfunctional vestigial genes (such as those in the global family) that are remnants of previously functional genes.

Question 30

What is spinal muscular atrophy and what causes it?

Answer 30

problem of motor function, caused by survival motor neuron (SMN1) gene mutation - AR.

Question 31

Define genetic heterogeneity

Answer 31

Different gene -> same phenotype

Question 32

What is Bardet-Biedl?

Answer 32

condition including obesity, polydactyly. Caused by 18 different genes (genetic heterogeneity) that affect cilia.

Question 33

What does 'sensitivity' measure?

Answer 33

proportion of those with disease who are detected (true positive / all positive)

Question 34

What does 'specificity' measure?

Answer 34

Proportion of those who are disease free who test negative (true negative / all negative)

Question 35

What is the treatment for medium chain acyl dehydrogenase deficiency?

Answer 35

avoid fasting

Question 36

What is Duchenne Muscular Dystrophy, how is it inherited?

Answer 36

X-linked disorder associated with loss of dystrophin, important structural protein. Rock-hard calves.

Question 37

What is difference between DMD and BMD?

Answer 37

Becker's is less severe, some protein vs. DMD, no protein.

Question 38

Give for example of tumor suppressor genes whose mutations lead to disease

Answer 38

1) BRCA1 2) BRCA2 3) Retinoblastoma 4) familial adenomatous polyposis (polyps in colon)

Question 39

What causes familial hypercholesterolemia?

Answer 39

LDL receptor deficiency

Question 40

What causes osteogenesis imperfecta?

Answer 40

mutation in a collagen gene.

Question 41

What is the mechanism by which huntington's disease acts?

Answer 41

triplet repeat produces a mutant gene product due to a polyglutamine repeat that acts to kill cells in which they are expressed. Gain of function mutation.