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PHRM 824 Final > Exam 5 Exam Material > Flashcards

Exam 5 Exam Material Flashcards

1
Q

Autosomal dominant

A

DD and Dd, Delayed onset, Huntington disease

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2
Q

Autosomal recessive

A

Dd and Dd, Early onset, uniform symptoms

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3
Q

X linked recessive

A

Xx and Xy, Only males effected usually, Hemophilia A an B

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4
Q

Penetrance

A

Portion of people in population with mutated gene that shows traits

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5
Q

Expressivity

A

How a gene presents itself, complete, moderate, minimal, no penetrance/expression

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6
Q

Genetic variants

A

Pathogenic, Benign, Likely Pathogenic, Likely benign, Uncertain significance

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7
Q

New de novo variants

A

Found in children not parents, in egg or sperm of parents but not in other cells, can lead to mosaicism

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8
Q

Missense mutation

A

Change 1 nucleotide, amino acid to different amino acid, produce malfunctioning proteins

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9
Q

Nonsense mutation

A

Single nucleotide change, change amino acid to stop codon, causes frame shift, multiple of 3 does not cause frame shift

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10
Q

Three types of mutations that cause autosomal dominant disorders

A

Loss of function, Osteogenesis imperfecta, gain of function

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11
Q

Loss of function

A

Loss of LDL-R
can’t remove LDL from body
Familial hypercholesterolemia

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12
Q

Osteogenesis imperfecta

A

Defects in production of collagen
2 subunits alpha 1, 1 subunit alpha 2

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13
Q

Gain of function

A

PCSK9 binds to LDL receptor
Directs it to lysosome

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14
Q

Cystic fibrosis

A

Recessive disorder LOF, most common affecting Caucasians, affects fluid secretion in exocrine glands, respiratory lining, GI, and reproductive tracts

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15
Q

Translocation

A

transfer part of a chromosome to another

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16
Q

Isochromosome

A

Centromere divides horizontally instead of vertically

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17
Q

Deletion

A

Loss of a portion

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18
Q

Inversion

A

Two interstitial breaks the segment reunites but is flipped

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19
Q

Ring chromosome

A

A variant of deletion after loss of segments from each end of the chromosome, the arms unite to form a ring

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20
Q

Down syndrome

A

Trisomy 21, 3 copies, meiosis 1 nondysjunction, excess skin on back of neck, transverse palmar crease, folded ear

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21
Q

Turner syndrome

A

Monosomy X, single X chromosome in females

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22
Q

Triplet repeat mutations

A

Longer repeats cause disruption of gene function
40 neurodegeneration diseases, fragile X

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23
Q

Mitochondrial mutations

A

Only inherited from mother, males can’t transmit to offspring, affected organs depend on oxidative phosphorylation (skeletal muscle, heart, brain)

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24
Q

Cytogenetic disorders

A

In 1/200 infants, change in chromosome number or structure, autosomes or sex chromosomes, disorders from autosome number are more severe than single gene disorders

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25
Q

Genetic imprinting

A

Some regions of DNA inactivated in copy received from mother or father

26
Q

Maternal imprinting

A

silencing of maternal allele

27
Q

Paternal imprinting

A

Transcriptional silencing of paternal allele

28
Q

Prader willi

A

Chromosome 15 deletion from father

29
Q

Angelman syndrome

A

chromosome 15 deletion from mother

30
Q

Neoplasia

A

Abnormal growth of cells and tissues
characterized by dysregulated cell proliferation

31
Q

Difference between malignant and benign

A

Cancers are less differentiated, invasive, and metastatic

32
Q

Grading

A

estimate of aggressiveness level of malignancy
based on differentiation and greater clinical value

33
Q

Three fundamental principles of carcinogenesis

A

Genetic changes lie at the heart of carcinogenesis, carcinogenesis is multistep, oncogenes and tumor suppressive genes are targets of this damage

34
Q

Oncogenes

A

genes that encode proteins that inhibit cancer

35
Q

Two hit hypothesis

A

Need a mutation in both genes to lose activity of tumor suppressor and to develop cancer

36
Q

Pediatric cancers

A

Tend to have single genetic events that are important at a specific developmental time

37
Q

Adult cancers

A

rarely have a single genetic mutation

38
Q

X ray and cosmic radiationcause

A

genetic lesions

39
Q

Six hallmarks of cancer cells

A

Self sufficiency in growth signals
Insensitivity to anti-growth signals
Tissue invasion and metastasis
Limitless replicative potential
Sustained angiogenesis
Evading apoptosis

40
Q

G0/G1

A

Building blocks, duplicated contents but not chromosomes

41
Q

G1 checkpoint

A

Cell size, nutrients, dna damage, growth factors

42
Q

S

A

cell replicating DNA

43
Q

G2

A

cell assembles for chromosome segregation and cytokinesis
double checks duplicated chromosomes

44
Q

M

A

mitosis, spindle assembly checkpoint

45
Q

Telomerase expression

A

Leads to cell immortalization, limitless replicative potential, telomeres at the end of chromosomes shorted with every division

46
Q

How tumor cells induce angiogenesis

A

Produce vascular endothelial growth factor

47
Q

How inflammation increases cancer risk

A

Results in persistent regenerative cell proliferation or hyperplasia and dna damage as a result of reactive oxygen and nitrogen species produced by immune cells

48
Q

PTEN

A

Phosphatase that reverses PI3K kinase phosphorylation

49
Q

NF1

A

Inhibits Ras

50
Q

BAX

A

pro-apoptotic regulators

51
Q

VEGF

A

promotes angiogenesis

52
Q

LMP1 and LMP2

A

In Epstein Barr virus, cell surface receptors that activate mitogenic signaling in B cells

53
Q

vFLIP

A

In Kaposi’s herpesvirus, increases metastasis and angiogenesis

54
Q

MCPV

A

Merkel cell polyomavirus, requires infection then mutation of the large T antigen in elderly and immunocompromised

55
Q

HPV

A

Human papillomaviruses cause cervical cancer because E6 targets p53 and E7 targets Rb

56
Q

TAX

A

In HTLV-1, increases expression of genes that promote proliferation, DNA repair, and resistance to apoptosis

57
Q

Loss of APC

A

results in hyperproliferative colonic epithelium

58
Q

GOF mutation of ras gene

A

Intermediate adenoma

59
Q

Loss of mutation of p53

A

results in carcinoma

60
Q

HER2 overexpression

A

Breast cancer responsiveness to anti-hormone therapy

PHRM 824 Final (4 decks)

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