Brainscape's Knowledge GenomeTM

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


See full index

GI System Final I > Genetics - Cole > Flashcards

Genetics - Cole Flashcards

1
Q

Etiology of Hirschsprung disease

A

abnormal neural growth, migration, and differentiation

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

Short segment form of Hirschsprung disease

A

does not extend beyond upper sigmoid

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

Long segment form of Hirschsprung disease

A

extends proximal to sigmoid

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

Clinical presentation of Hirschsprung disease

A

megacolon, lack of colon peritalsis

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

What other syndrome is commonly associated with Hirschsprung disease

A

Down syndrome

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

Who is Hirschsprung disease most common in (incidence)

A

male and asians

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

Most common gene associated with Hirschsprung disease

A

RET gene

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

Mode of inheritance for Hirschsprung disease in RET gene

A

Autosomal dominant

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

Protein function involved in Hirschsprung disease and RET gene

A

tyrosine kinase receptor

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

Proto-oncogene

A

genes that code for proteins that help regulate cell growth

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

what cell is RET gene expressed in

A

neural crest cells

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

Hirschsprung is what kind of mutation

A

Loss-of-function

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

Loss-of-function mutation

A

reduced or abolished protein function

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

What syndrome is associated with gain-of-function mutation

A

MEN (multiple endocrine neoplasia) syndrome

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

Gain-of-function

A

type of mutation in which altered gene product has new function or new pattern of expression

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

Function of RET gene

A

gives instructions to proteins that are involved in signaling within cells

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

RET and Hirschsprung disease association

A

result in nonfunctional RET protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Result of no RET protein signaling

A

enteric nerves do not develop

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Hemochromatosis

A

liver disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Etiology of hemochromatosis

A

Decrease in HFE function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Function of AAT

A

protect the cell from elastase overactivation`

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

2 diseases/syndromes associated with hemochromatosis

A

Wilson disease and Menkes syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Secondary hemochromatosis

A

not genetically related- but due to build-up of iron from anemia, liver disease, or alcoholism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Iron overload through too much absorbed

A

iron is excess of transferrin capacity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Where does iron excess deposit in the body

A

liver, heart, and endocrine organs

26
Q

What can iron excess in body lead to

A

tissue damage and fibrosis of liver, heart, and endocrine organs

27
Q

Iron overload through too many erythrocytes destroyed

A

accumulates in macrophages first then tissue parenchyma

28
Q

Most common gene associated to iron absorption regulation

A

HFE

29
Q

Mode of inheritance for HFE gene

A

autosomal recessive

30
Q

Factors that decrease iron absorption

A

regular blood transfusions, high iron diet, iron loading vitamins

31
Q

Factors that increase iron absorption

A

celiac disease, pica, GI bleeding

32
Q

HFE function

A

regulate circulating iron uptake by regulating transferrin receptor (TFR1/2) and transferrin

33
Q

Hepcidin

A

regulator of entry of iron into circulation

34
Q

Transferrin

A

iron-binding blood plasma glycoprotein that controls level of free iron

35
Q

Ferroportin

A

transmembrane protein that transports iron from inside cell to outside cell

36
Q

What inhibits ferroportin

A

hepcidin

37
Q

T/F hemochromatosis is common in young infants

A

F- late onset, 40-50 males and later onset in females

38
Q

S/S of hemochromatosis

A

increased pigmentation, fatigue, hepatospenomegaly

39
Q

Endocrine organs affected by hemochromatosis

A

diabetes (pancreas), hypopituitarism (pit), hypogonadism (gonad), hypoparathyroidism (thyroid)

40
Q

Skin color of person with hemochromatosis

A

bronze skin

41
Q

ONLY sign or symptom specific to hemochromatosis

A

“The Iron Fist”

42
Q

Treatment for hemochromatosis

A

therapeutic phlebotomy to remove iron in blood

43
Q

Hereditary hemochromatosis gene

A

C282Y - cys to tyr mutation

44
Q

Incidence of hemochromatosis

A

Northern European ancestry

45
Q

Two genes involved in copper homeostasis

A

ATP7A and ATP78

46
Q

Ceruloplasmin

A

major copper-carrying protein in the blood and iron metabolism

47
Q

Regulation of iron absorption by ceruloplasmin

A

ceruloplasmin promotes iron loading onto transferring with only binds Fe2+ –> reduced Cu2+ transports Fe2+ to increase Fe2+ absorption

48
Q

Gene associated with Menkes Syndrome

A

ATP7A

49
Q

If ATP7A is mutated

A

Menkes Syndrome- uptake of copper impaired and copper deficiency occurs

50
Q

Clinical presentation of Menkes

A

infant healthy until 2-3 months, loss of developmental milestones, hypotonia, and failure to thrive

51
Q

MAIN sign of Menkes

A

kinky hair, short, sparse, lightly pigmented

52
Q

Vessels of Menkes patient

A

very tortuous blood vessels

53
Q

Gene associated with Wilson disease

A

ATP7B

54
Q

ATP7B mutations for Wilsons disease

A

prevent release of Cu2+ from hepatocytes causing decreased ceruloplasmin levels and Fe2+ and Fe3+ affected

55
Q

S/S of Wilsons Disease

A

progressive lenticular degeneration, softening of lenticular nucleus, liver cirrhosis

56
Q

Clinical presentation of Wilsons Disease

A

movement disorders, rigid dystonia, Kayser-Fleischer ring

57
Q

Kayser-Fleischer ring

A

copper deposition in Descemet’s membrane of cornea

58
Q

Copper levels in liver of Menkes syndrome

A

decreased

59
Q

Copper levels in liver of Wilsons

A

increased

60
Q

Serum copper in Menkes and Wilsons

A

decreased

61
Q

Treatment for Menkes

A

daily copper/histidine injections

62
Q

Treatment for Wilsons

A

copper chelation

GI System Final I (7 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions