Genetics Flashcards

1
Q

Genes and Chromosomes associated with Early onset Alzheimer

A

Amyloid Precursor Protein gene on chr 21, Presenelin 1 gene on chr 14, Presenelin 2 gene on chr 1

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

Huntington Disease Brain Region affected

A

Atrophy of the caudate, changes to putamen as well, collectively these are the striatum

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

Stop Codons

A

UAA, UAG, UGA

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

MEN1

A

Pituitary tumors, Pancreatic endocrine tumors, Parathyroid adenomas

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

Mutation in MEN1

A

Menin protein, a tumor suppressor, gene on chromosome 11

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

MEN2A

A

Parathyroid hyperplasia, Medullary thyroid carcinoma, Pheochromocytoma

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

Mutation in MEN2A

A

RET oncogene, receptor tyrosine kinase in cells of neural crest origin

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

MEN2B

A

Marfanoid habitus, Medullary thyroid carcinoma, Pheochromocytoma, Mucosal neuromas (oral/intestinal ganglioneuromatosis)

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

Mutation in MEN2B

A

RET oncogene, receptor tyrosine kinase in cells of neural crest origin

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

Pituitary tumors, Pancreatic endocrine tumors, Parathyroid adenomas

A

MEN1

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

Parathyroid hyperplasia, Medullary thyroid carcinoma, Pheochromocytoma

A

MEN2A

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

Marfanoid habitus, Medullary thyroid carcinoma, Pheochromocytoma, Mucosal neuromas (oral/intestinal ganglioneuromatosis)

A

MEN2B

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

Inheritance of all MEN syndromes

A

Autosomal Dominant

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

Neurofibromatosis 1

A

Cafe-au-lait spots, cutaneous neurofibromas, axillary or inguinal freckling, optic glioma, iris hamartomas, osseous lesions, pheochromocytoma

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

Neurofibromatosis 2

A

More central form: bilateral acoustic neuromas, brain meningiomas, and schwannomas of the dorsal roots in the spinal cord

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

Von Hippel-Lindau

A

Hemangioblastomas in retina, brain stem, cerebellum, and spine; angiomatosis (e.g. cavernous hemangiomas in skin, mucosa, organs); bilateral renal cell carcinoma; pheochromocytomas