Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Molecular Mechanisms - Genetics > Deck 1 > Flashcards

Deck 1 Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

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

A

HLA2 genes involved in antigen presentation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

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

A

APP, Presenilin-1, Presenilin-2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

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

A

APEO, EP2 / EP4 (EP2 is protective)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the inheritance pattern of osteogenesis imperfect?

A

autosomal dominant negative

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What causes achondroplasia?

A

gain of function mutation in FGFR3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What causes fragile X

A

More than 200 CCG repeats on X chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What causes huntington’s?

A

Many copies of CAG repeat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the inheritance pattern of hereditary retinoblastoma?

A

autosomal dominant (autosomal recessive at the cellular level)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the inheritance pattern of muscular dystrophy?

A

X-linked recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the inheritance pattern of achondroplasia?

A

autosomal dominant (gain of function mutation)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the inheritance pattern of myotonic dystrophy?

A

autosomal dominant (Triple repeat expansion)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the inheritance pattern of osteogenesis imperfecta?

A

dominant negative

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is a method of treating urea cycle disorders?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What’s a method of treating beta thalassemia?

A

butyrate, helps rescue by up regulating HbF synthesis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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

A

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

18
Q

What is Angelman syndrome and how is it inherited?

A

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

19
Q

What do cytogenomic arrays detect?

A

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

20
Q

Paracentric vs. pericentric - which inversion involves the centromere?

A

pericentric.

21
Q

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

A

beta thalassemia

22
Q

What is presymptomatic genetic testing?

A

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

23
Q

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

A

BRCA2

24
Q

What are the BRCA genes involved with?

A

DNA repair

25
Q

What is the major symptom of malignant hyperthermia

A

Crash during anesthesia involving certain trigger agents.

26
Q

What is the treatment for familial hypercholesterolemia?

A

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

27
Q

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

A

iron overload - phlebotomy.

28
Q

How do you treat homocystinuria?

A

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

29
Q

What is a pseudogene?

A

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

30
Q

What is spinal muscular atrophy and what causes it?

A

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

31
Q

Define genetic heterogeneity

A

Different gene -> same phenotype

32
Q

What is Bardet-Biedl?

A

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

33
Q

What does ‘sensitivity’ measure?

A

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

34
Q

What does ‘specificity’ measure?

A

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

35
Q

What is the treatment for medium chain acyl dehydrogenase deficiency?

A

avoid fasting

36
Q

What is Duchenne Muscular Dystrophy, how is it inherited?

A

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

37
Q

What is difference between DMD and BMD?

A

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

38
Q

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

A

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

39
Q

What causes familial hypercholesterolemia?

A

LDL receptor deficiency

40
Q

What causes osteogenesis imperfecta?

A

mutation in a collagen gene.

41
Q

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

A

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.

Molecular Mechanisms - Genetics (2 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions