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adv. patho > exam 1 > Flashcards

exam 1 Flashcards

1
Q

4 key elements of DNA

A

Cytosine (C), thymine (T), adenine (A), guanine (G

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2
Q

purines

A

adenine

guanine

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3
Q

pyrimidine

A

cytosine

thymine

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4
Q

when the cells are not dividing

A

G 0

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5
Q

cell that getting ready for division

amount of cytoplasm increase

A

G1

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6
Q

Formation of haploid cells from diploid cells

A

Meiosis

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7
Q

Is any inherited alteration of genetic material.

A

Mutation

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8
Q

Are agents, such as radiation and chemicals, that increase the frequency of mutations.

A

Mutagens

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9
Q

Involves the insertion or deletion of one or more base pairs to the DNA molecule.

A

Frameshift mutation

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10
Q

One base pair is substituted for another; may result in changes in amino acid sequence.

May or may not cause disease or problems

A

Base pair substitution or missense mutation

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11
Q

With Transcription:

RNA is synthesized from the ___ template via RNA
polymerase.

A

DNA

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12
Q

With Transcription:

DNA specifies a sequence of____

A

mRNA.

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13
Q

With Transcription:

Transcription continues until the _____ sequence is reached.

A

termination sequence is reached.

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14
Q

With Transcription:

mRNA then moves out of the nucleus and into the _____

A

cytoplasm.

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15
Q

With Transcription:

Gene ____ occurs.

A

Gene splicing occurs.

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16
Q

Is the process by which RNA directs the synthesis of a polypeptide via the interaction with transfer RNA (tRNA).

A

Translation

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17
Q

____ contains a sequence of nucleotides (anticodon) complementary to the triad of nucleotides on the mRNA strand (codon).

A

tRNA

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18
Q

_____ is the site of protein synthesis.

A

Ribosome

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19
Q

_____ helps mRNA and tRNA make polypeptides.

A

Ribosome

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20
Q

Contain 46 chromosomes (23 pairs)

One member from the mother; one from the father

Diploid cells

A

Somatic cells

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21
Q

Sperm and egg cells

Contain 23 chromosomes

Haploid cells
One member of each chromosome pair

A

Gametes

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22
Q

Are the first 22 of the 23 pairs of chromosomes in males and females.

The two members are virtually identical and are thus said to be homologous.

A

Autosomes

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23
Q

Make up the remaining pair of chromosomes.

In females, it is a homologous pair (XX).

In males, it is a non-homologous pair (XY).

A

Sex chromosomes

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24
Q

The length and centromere location determine the ordered display of chromosomes

A

Karyotype

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25
Q

Have a multiple of the normal number of chromosomes.

Haploid and diploid cells are forms.

A

Euploid cells

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26
Q

: Is a zygote that has three copies of each chromosome.

A

Triploidy

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27
Q

An euploid cell has more than the diploid number.

A

Polyploid cells:

Triploidy, Tetraploidy

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28
Q

Has four copies of each chromosome (92 total).

A

Tetraploidy:

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29
Q

_____ fetuses do not surviveor are stillborn or spontaneously aborted.

A

Triploid and tetraploid

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30
Q

Usually presents less serious consequences than autosomes.

Y chromosome usually causes no problems since it contains little genetic material.

For the X chromosome, inactivation of extra chromosomes largely diminishes their effect.

A

Aneuploidy of sex chromosomes

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31
Q

Chromosomes 13, 18, and 21 can survive;

most others do not.

A

Trisomy

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32
Q

Only an extra portion of a chromosome is present in each cell.

Is not as severe as trisomy.

A

Partial trisomy

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33
Q

Are trisomies that occur in only some cells of the body.

Body has two or more different cell lines, each of which has a different karyotype.

A

Chromosomal mosaics

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34
Q

Trisomy
Partial trisomy
Chromosomal mosaics

A

Autosomal Aneuploidy

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35
Q

Most common cause is maternal nondisjunction

A

Down syndrome

Autosomal Aneuploidy

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36
Q

Is the best-known example of aneuploidy.
Trisomy 21

Occurs 1 in 800 live births.

Manifestations: Mental challenges; low nasal bridge; epicanthal folds; protruding tongue; flat, low-set ears; and poor muscle tone.

Risk increases with maternal age.

Has an increased risk of congenital heart disease, respiratory infections, and leukemia.

A

Down syndrome

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37
Q

Occurs 1 in 400 males and 1 in 650 females.

Trisomy X is one of the most common aneuploidy.

Females have three X chromosomes.

Occurs 1 in 1000 female births.

Symptoms are variable and include sterility, menstrual irregularity, and/or cognitive deficits.

Symptoms worsen with each additional X chromosome.

A

Sex Chromosome Aneuploidy

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38
Q

Females have only one X chromosome

Denoted as karyotype 45,X.

Absence of ovaries (sterile)

Short stature

Webbing of the neck

Widely spaced nipples

High number of aborted fetuses

X chromosome that is usually inherited from the mother

Occurs 1 in 2500 female births.

Teenagers receive estrogen.

A

Turner syndrome

Sex Chromosome Aneuploidy

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39
Q

Individuals with at least one Y and two X chromosomes.

Characteristics include:
Male appearance
Femalelike breasts (gynecomastia)
Small testes
Sparse body hair
1 in 1000 male births

Some individuals can be XXXY and XXXXY; will have male appearance; abnormalities will increase with each X; can also have an extra Y chromosome.
Disorder increases with the mother’s age.

A

Klinefelter syndrome

Sex Chromosome Aneuploidy

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40
Q

Abnormalities of Chromosomal Structure:

Chromosome breakage or loss of DNA

Example: Cri du chat syndrome or “cry of the cat”
Low birth weight, mentally challenged, and microcephaly

A

Deletions

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41
Q

Abnormalities of Chromosomal Structure:

Excess genetic material

Usually have less serious consequences

A

Duplications

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42
Q

Abnormalities of Chromosomal Structure:

Chromosomal rearrangement in which a chromosome segment is inverted: ABCDEFG becomes ABEDCFG

Usually affects offspring

A

Inversion

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43
Q

Element of Formal Genetics where:

Is the location occupied by a gene on a chromosome.

A

Locus:

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44
Q

Is one of several different forms of a gene at a locus.

A

Allele

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45
Q

Is a locus that has two or more alleles that occur with appreciable frequency.

A

Polymorphism or polymorphic

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46
Q

When genes are identical

A

Homozygous:

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47
Q

When genes are different

A

Heterozygous:

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48
Q

Is the composition of genes at a given locus.

A

Genotype

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49
Q

Is the outward appearance of an individual.

Results from genotype and the environment.

A

Phenotype

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50
Q

Four major types of genetic diseases

A

Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive

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51
Q

The union of a normal parent with an affected heterozygous parent usually produces the affected offspring.

half will be heterozygous and will express the disease and half will be normal.

A

Autosomal Dominant Inheritance

example: Huntington’s disease

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52
Q

Abnormal allele is recessive, and the person must be homozygous to express the disease.

Trait usually appears in the children, not in the parents.

A

Autosomal Recessive Inheritance

example: cystic fibrosis

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53
Q

Is the mating of two related individuals.

Offspring are termed inbred.

Proportion of shared genes depends on the closeness of the biologic relationship.

A

Consanguinity

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54
Q

Is a disorder that involves X and Y chromosomes.

Y-linked disorders are uncommon because the Y chromosome contains relatively few genes.

Males are affected more often with X recessive conditions.

A

X-Linked Inheritance

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55
Q

Is a process by which one X chromosome in the somatic cells of females is permanently inactivated.

A

X inactivation

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56
Q

Begins during the sixth week of gestation.
One copy of the Y chromosome is sufficient to initiate the process of gonadal differentiation that produces a male fetus.
Number of X chromosomes does not alter this process.

A

Sex determination

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57
Q

The process by which cells program themselves to die is called:

A

apoptosis.

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58
Q

A cell can ingest bacteria or cellular debris through the process of:

A

phagocytosis

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59
Q

Activity of the Cell Cycle where:

Cells that are not actively dividing
Most normal cells in this stage most of the time

A

G0

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60
Q

Activity of the Cell Cycle where:

Cell is getting ready for division by taking on extra nutrients, making more energy, & growing extra membrane. The amt. of cell cytoplasm also increases

normal cell functions occur

A

G1

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61
Q

Activity of the Cell Cycle where:

DNA replication and synthesis

2 copies of each chromosome

A

S

62
Q

Activity of the Cell Cycle where:

Production of proteins important to cell division and in normal physiological function after mitosis is complete

A

G2

63
Q

Activity of the Cell Cycle where:

the DNA in the nucleus pulls apart and creates 2 nuclei, followed by the cell separating into 2 cells each with on nucleus

A

M (mitosis)

64
Q

the part of the cell cycle where

(growth phase) nuclear division

A

mitosis

65
Q

cytoplasmic division

A

cytokinesis

66
Q

what are the 3 phases of interphase?

A

G1
S
G2

67
Q

what are the phases of mitosis

A

prophase
metaphase
anaphase
telophase

68
Q

Are chemical modifications of deoxyribonucleic acid (DNA) sequences that alter the expression of genes, resulting in disease and phenotypic variations (upon genetics).

A

Epigenetics

69
Q

4 Types of epigenetic modifications

A

DNA methylation

Histone modification

Microribonucleic acids (miRNAs) or mature miRNAs [miRs])

Specific environmental or nongenetic factors
(such as diet and exposure to certain chemicals, can affect epigenetics.)

70
Q

4 Types of Cancer -genomic mechanism

A

Hereditary
Chromosomal
Epigenetic Biochem. Modification
Sporadic mutation

71
Q

Specific genetic changes passed from parent to child

A

Hereditary

72
Q

Genomic Mechanism where:
Hallmarks:

Early age of onset
Development of multiple types of cancer in a single person
Bilateral tumors in paired organs
Cancer in gender less affected i.e. breast cancer in males
Same or similar cancer in many biological relatives

A

Hereditary

73
Q

Genomic Mechanism where:

5-10% of cancer cases

Inheritance predisposition occurs on a single gene mutation

Susceptibility begins a genetic alteration in parental gamete (sperm/ova) and incorporated into zygote

Every somatic cell in body will carry this germline mutation

A

Hereditary

74
Q

4 types of genetic alteration disrupt cell differentiation and function

A

DNA repair
Oncogenes
Chromosomal translocations
Tumor suppressor genes

75
Q

3 basic chromosomal alteration that effect Cancer

A

Alteration in copy # of chromosomes inside the nucleus of the cell

Translocation of one or more segments on one or more chromosomes to a new position on the same of different chromosome

Structural instability of chromosomes leads to further impairments in the cells ability to repair DNA or recover form the slippery slope of tumorigenesis

76
Q

4 types of Epigenetic Biochemical Modification

A

DNA methylation
Genomic imprinting
Histone modification
miRNA

77
Q

Cellular information that is inherited during cell division but is not encoded in the DNA sequence of the genome.

A

Epigenetic Biochemical Modification

78
Q

are both inherited and acquired in response to environmental exposure early in life

A

Epigenetic Biochemical Modification

79
Q

Increases activity of oncogenes.

increases as tumors progress from benign neoplasms to malignancy.

A

Hypomethylation (decreased methylation).

80
Q

Ability to inhibit tumor formation: Decreases

Promoter region of the RB1: Can cause retinoblastoma

BRCA1: can lead to inherited breast cancer

VHL promoter region: associated with von Hippel-Lindau disease, in which renal cell carcinomas frequently occur

A

Hypermethylation in promoter regions of tumor-suppressor genes.

81
Q

When MLH1 becomes inactive, damaged DNA accumulates, eventually resulting in colon tumors.

Is the major cause of one form of inherited colon cancer—hereditary nonpolyposis colorectal cancer.

A

Methylation of the promoter region of a gene: MLH1

82
Q

Results
Histone acetylation and deacetylation
Alterations in chromatin

A

Histone Modification

83
Q

Cancer that happen de novo “by chance”

Comprises 90-95% of all cancers not attributed to gene mutations or chromosomal aberrations

A

Sporadic mutations

84
Q

Is the process of gene silencing, in which genes are predictably silenced, depending on which parent transmits them

A

Genomic Imprinting

85
Q

Is the deletion of approximately 4 million base (Mb) pairs of the long arm of chromosome 15.

Is inherited from the father.

A

Prader-Willi Syndrome

86
Q

Has the same deletion of approximately 4 Mb pairs of the long arm of chromosome 15.

Is inherited from the mother.

Clinical manifestations:
Severe mental retardation
Seizures
Ataxic gait

A

Angelman Syndrome

87
Q

broad term for a class of diseases characterized by abnormal cells that grow and invadehealthy cells in the body.

A

Cancer

88
Q 
slow growth
well defined capsule 
no invasive 
well differentiated 
low mitotic index 
does not metastasize
A

benign

89
Q 
rapid growth
not encapsulated
invasive 
poorly differentiated 
high mitotic index
 can spread distantly (metastasize
A

malignant

90
Q

Malignant epithelial tumors:

A

Carcinomas

91
Q

Malignant tumor of Ducts or glands

A

Adenocarcinoma

92
Q

Malignant connective tissue tumors

A

Sarcomas

93
Q

Cancers of lymphatic tissue

A

Lymphomas

94
Q

Cancers of blood-forming cells

A

Leukemias

95
Q

Are preinvasive epithelial malignant tumors of glandular or squamous origin.

not malignant

A

Carcinoma in situ (CIS)

96
Q

Are substances produced by benign or malignant cells.

Are found on or in a tumor cell, in the blood, in the spinal fluid, or in urine.

A

Tumor Markers

97
Q

Is the process during which a normal cell becomes a cancer cell.

A

Transformation

98
Q

Are normal nonmutant genes that code for cellular growth.

A

Proto-oncogenes

99
Q

Are mutant genes that, in their nonmutant state, direct protein synthesis and cellular growth.

A

Oncogenes

100
Q

Encode proteins that, in their normal state, negatively regulate proliferation.

A

Tumor-suppressor genes

Are also referred to as anti-oncogenes.

101
Q

is a G protein that relays a growth signal from a growth factor receptor on the plasma membrane to a cascade of protein kinases

A

Ras protein

102
Q

Positive signal for cell proliferation

master regulator

A

MYC protein:

103
Q

Changes occur in one or a few nucleotide base pairs.\

Ras gene converts a regulated proto-oncogene to an unregulated oncogene, accelerating growth.

A

Point mutations

104
Q

Piece on one chromosome is transferred to another.

A

Chromosome translocation

105
Q

A small piece of chromosome is duplicated over and over.

Results in an increased expression of an oncogene.

A

Gene amplification

106
Q

Are responsible for the maintenance of genomic integrity.

Encode proteins that are involved in repairing damaged DNA, such as the damage that occurs with errors in DNA replication, mutations caused by ultraviolet or ionizing radiation, and mutations caused by chemicals and drugs.

A

Caretaker genes

107
Q

first factor in cancer metastasizing

A

Cancer cells secrete enzyme and motility factors

108
Q

Are protective caps on each chromosome that are held in place by a telomerase.

A

Telomeres

109
Q

become smaller and smaller with each cell division.

A

Telomeres

110
Q

Viruses have been associated with human cancer

A 
Epstein-Barr virus (EBV)
Kaposi sarcoma herpesvirus (KSHV)
Human T-cell lymphotropic virus type 1 
Human papillomavirus (HPV)
Chronic hepatitis B &C infections
111
Q

Active ______ predisposes a person to cancer.

A

inflammation

112
Q

This bacteria can both directly and indirectly produce genetic and epigenetic changes in infected stomachs.

bacterial cause of cancer

A

Helicobacter pylori

113
Q

Is the spread of cancer cells from the site of the original tumor to distant tissues and organs through the body

A

Metastasis

114
Q

Local spread

Is a prerequisite for metastasis and the first step in the metastatic process.

A

Invasion

115
Q

stage of cancer where

Is confined to its organ of origin

A

stage 1

116
Q

stage of cancer where

Is locally invasive.

A

stage 2

117
Q

stage of cancer where

Has advanced to regional structures

A

stage 3

118
Q

stage of cancer where

Has spread to distant sites.

A

stage 4

119
Q

Symptom complexes are triggered by a cancer but are not caused by direct local effects of the tumor mass.

Are caused by biologic substances released from the tumor (e.g., hormones) or by an immune response triggered by the tumor.

A

Paraneoplastic syndromes

120
Q

Is the most frequently reported symptom of cancer and cancer treatment.

A

Fatigue

121
Q

Is the most severe form of malnutrition.

Leads to protein-calorie malnutrition and progressive wasting.

A

Cachexia

122
Q

Is a decrease of hemoglobin in the blood.

A

anemia

123
Q

Eradicates enough tumor cells to enable the body’s natural defenses to eradicate the remaining cells.

A

Chemotherapy

124
Q

Causes shrinkage or the disappearance of tumors.

A

Induction chemotherapy:

125
Q

Is administered after the surgical excision with a goal of eliminating micrometastases.

A

Adjuvant chemotherapy:

126
Q

Is administered before localized (surgical or radiation) treatment.

A

Neoadjuvant chemotherapy:

127
Q

Is used to kill cancer cells while minimizing the damage to normal structures.

A

Radiation Therapy

128
Q

Damages cells by imparting enough ionizing radiation to cause molecular damage to the DNA.

Causes irreversible damage to normal cells.

A

Ionizing radiation

129
Q

Radiation Seeds are implanted.

A

Brachytherapy

130
Q

Is a definitive treatment of cancers that do not spread beyond the limits of surgical excision

A

Surgery

131
Q

Inhibit the binding of proteins that promote transcription; the gene becomes transcriptionally inactive.

A

Histone Modification

132
Q

The Warburg Effect

A

increase in the rate of glucose uptake and preferential production of lactate, even in the presence of oxygen.

133
Q

formation of new blood vessels

A

angiogenesis

134
Q

tumors more the 1mm requires _____

A

own blood supply

135
Q

contain genes.

A

Chromosome

136
Q

The sequence of three bases _____ direct the production of amino acids.

A

(codons)

137
Q

Termination and nonsense codons stop the production of _____

A

protein.

138
Q

having an abnormal number of chromosomes in a haploid set.

A

Aneuploidy

139
Q

the first appearance of chromosomes. As the phase proceeds, each chromosome is seen as two identical halves called chromatids

A

prophase

140
Q

the spindle fibers begin to pull the centromeres of the chromosomes

A

metaphase

141
Q

When the sister chromatids are separated, each is considered to be a chromosome. Thus the cell has 92 chromosomes during this stage.

A

anaphase

142
Q

a new nuclear membrane is formed around each group of 46 chromosomes, the spindle fibers disappear, and the chromosomes begin to uncoil

A

telophase

143
Q

a form of modified cellular metabolism found in cancer cells, which tend to favor aerobic glycolysis even in the presence of oxygen

A

Warburg effect

144
Q

5 steps of cancer metastases

A

cancer cells secrete enzyme and motility factors

cancer cells escape into circulation

new tissue invaded downstream

malignant cells target specific sites

metastatic tumor appears

145
Q

the loss of cellular differentiation

A

anaplasia

146
Q

an increase in the number of cells in an organ or tissue resulting from an increased rate of cellular division.

A

hyperplasia

147
Q

the reversible replacement of one mature cell type (epithelial or mesenchymal) by another, sometimes less differentiated, cell type.

A

Metaplasia

148
Q

abnormal changes in the size, shape, and organization of mature cells.

A

dysplasia

149
Q

loss of TP 53 results in

A

increase of malignancy

150
Q

Bodily tissues are thought to release this protein to signal the need for additional oxygen

A

VEGF

adv. patho (10 decks)

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