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Cassandra's Advanced Pathophysiology > Module 1 Part B: Cell physiology and genetics > Flashcards

Module 1 Part B: Cell physiology and genetics Flashcards

1
Q

what are genes?

A

basic units of inheritance

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2
Q

What are genes composed of?

A

Composed of sequences of DNA and proteins

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3
Q

What are the four nitrogenous bases in DNA?

A

Adenine, cytosine, guanine and thymine.

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4
Q

What is a nucleotide?

A

A DNA subunit, consisting of one deoxyribose molecule, one phosphate group and one base.

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5
Q

How many different types of amino acids does the body have?

A

20

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6
Q

what are the three stop codons?

A

UAA
UAG
UGA

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7
Q

What is DNA polymerase function?

A

A protein enzyme that assists in DNA replication to ensure complementary base pairing of the nucleotides.

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8
Q

what is one single strand of DNA referred to as?

A

A template (guide)

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9
Q

what is mutation?

A

an inherited alteration of genetic material that occurs in DNA or mRNA sequence of nucleic acids.

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10
Q

what is base pair substition (form of mutation)?

A

one base pair is replaced with another

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11
Q

what is a missense mutation?

A

when one base pair alters a single amino acid

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12
Q

what is a nonsense mutation?

A

when the substitution produces any of the three stop codons

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13
Q

what is a frameshift mutation?

A

this involves the insertion or deletion of one or more base pairs in the DNA molecule.–can result in a premature stop codon and greatly alter the amino acid sequence.

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14
Q

What causes mutation?

A

coping errors during cell division, UV radiation, chemical toxins, viruses.

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15
Q

what kind of mutation is insertion?

A

one or more bases are added to the DNA strand (may be previous replication of previous base/codons).

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16
Q

where does transcription occur?

A

In the nucleus

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17
Q

what are the two processes involved in protein synthesis?

A

transcription and translation

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18
Q

Name RNA’s codon bases?

A

Uracil instead of thymine

adenine, cytosine, guanine

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19
Q

What is the difference in structure between DNA and RNA?

A

DNA structure is a double helix; RNA structure is a single strand.

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20
Q

where does translation occur?

A

In the cytoplasm

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21
Q

How many homologous chromosomes pairs does a human have?

A

22 pairs

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22
Q

How many sex chromosomes does a human have?

A

1 pair

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23
Q

What is the female sex chromosome?

A

XX

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24
Q

What is the male sex chromosome?

A

XY

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25
Q

how many possible codons are there?

A

64

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26
Q

what are germline cells?

A

sperm or egg cells (gametes)

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27
Q

what are somatic cells?

A

all human cells aside from sex cells

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28
Q

Can mutations in germline cells be transmitted to the next generation?

A

yes

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29
Q

Can mutations in somatic cells be transmitted to the next generation?

A

NO

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30
Q

Each somatic cell has how many chromosomes in its nucleus?

A

46 chromosomes; 23 pairs of chromosomes

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31
Q

how many homologous pairs are there?

A

22 pairs are the same/identical

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32
Q

what is a karyotype?

A

a profile of a person’s chromosomes

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33
Q

what is a centrome?

A

Located where the two pairs of chromosomes attach.

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34
Q

what is an allele?

A

an alternative form of a gene that is located at a specific position on a a specific chromosome.

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35
Q

Homozygous alleles are :

A

alike/identical; have the same trait and the same place on the chromosome

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36
Q

Heterozygous alleles are :

A

different/not the same on the chromosome

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37
Q

what is chromosomal nondisjunction and what is it associated with?

A

It is an error in which sister/homologous chromatids fail to SEPERATE normally during meiosis or mitosis. This is associated with aneuploidy.

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38
Q

What is a phenotype?

A

physical characteristics of a gene

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39
Q

what is a genotype?

A

the genetic makeup/composition of an organism

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40
Q

In which three chromosomes do trisomy occur and is viable for birth?

A

chromosome 13, 18, and 21.

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41
Q

In which chromosome does Down’s syndrome occur in and which aneuploidy is it associated with?

A

21st chromosome and it is associated with trisomy.

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42
Q

In which chromosome does Turner’s syndrome occur in and which aneuploidy is it associated with?

A

45X chromosome, associated with monosomy. Affects females.

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43
Q

Describe the alleles in Huntington’s disease

A

The alleles are heterozygous which means one allele is normal and one is abnormal

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44
Q

what is mosaicism?

A

It is the presence within an individual of 2 or more population of cells that differ in chromosomal numbers, usually caused by nondisjunction.
Occurs early in fetal development

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45
Q

what is the chromosomal abnormality with Klinefelter syndrome?

A

(XXY) an extra X chromosome in males

Mosaicism is sometimes seen in this.

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46
Q

What causes Cri du chat syndrome?

A

This is caused by a chromosomal deletion.

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47
Q

what is chiasmata and in what part of the cell cycle does it occur?

A

The exchange of genetic material, referred to splitting or crossing over. Occurs in Meiosis I.

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48
Q

In what order for DNA replication is the strand read?

A

It reads from the 3’ (prime) end to the 5’ (prime) end.

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49
Q

The antisense strand is use for what an how is it read?

A

It is transcribed to make mRNA. Reads from 3 prime to 5 prime.

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50
Q

what is transcription?

A

It is the process during which DNA sequence of a gene is copied to make an RNA molecule. Occurs in the cytoplasm

51
Q

what is translation?

A

Process during which an mRNA molecule is used to assemble amino acids into a polypeptide chain.

52
Q

T or F: Germline mutation can be passed onto descendants.

A

True

53
Q

T or F: Somatic mutations can’t be transmitted onto descendants.

A

True

54
Q

What is an important difference between mitochondrial DNA and Nuclear DNA?

A

Mitochondrial DNA is more susceptible to damage than nuclear DNA

55
Q

Why is pleiotropy?

A

The genetic effect of a single gene on multiple phenotypic traits. The gene codes for a product that is used by various cells or it has a signaling function on various target cells.

Short answer: one gene has multiple functions that can affect different cell functions.

56
Q

What is polygenic inheritance?

A

The influence of 2 or more that are required to express the trait.

( doesn’t follow recessive/dominant traits, example human skin color)

57
Q

What is penetrance?

A

It is the possibility that a person with the genotype will exhibit the expected trait.

58
Q

What is expressivity?

A

Refers to the ability of a gene mutation to produce different clinical s/s in individuals.

Ex. Cystic fibrosis—can cause infertility in males, some may have severe pancreatic problems while other have severe lung problems

59
Q

What is incomplete penetrance?

A

The person may or may not exhibit the characteristic.

60
Q

What is reduced penetrance?

A

Occurs when the individual has the genotype for the disease but doesn’t exhibit characteristics at all. (Still can pass the disease on, example retinoblastoma)

61
Q

What is Age-dependence penetrance ?

A

Don’t exhibit s/s until adulthood.

Autosomal dominant gene

62
Q

What is a disease example of age dependence penetrance?

A

Huntington’s disease

63
Q

In which direction is mRNA read?

A

From 5’ prime to 3’ prime

64
Q

what are introns?

A

noncoding sections of DNA between genes. They’re a gap in DNA. Introns are not included in mRNA.

65
Q

What is the start codon for DNA?

A

AUG (methionine)

66
Q

Describe the “P” region on a chromosome

A

Short arm of the chromosome, usually above the centrome. Think P for petite.

67
Q

Describe the “Q” region on a chromosome

A

Longer arm of the chromosome, usually below the centrome.

68
Q

Describe monosomy

A

When one single chromosome is lost

69
Q

Give an example of monosomy and what is wrong with the disease

A

Turner’s syndrome ; affects primarily women as they only have one X chromosome, genotype 45X.

70
Q

What is trisomy?

A

Three copies of a chromosome

71
Q

Give an example of trisomy and describe what is wrong with the disease

A

Down’s syndrome; there are three copies of chromosome 21.

72
Q

What is the order for Mitosis?

A

Interphase, Prophase, Metaphase, and Telophase

73
Q

What phases consist of Interphase?

A

G0, G1, S phase, and G2 phase

74
Q

what happens in Interphase: G1 phase?

A

growth of cell and preps for cell replication

75
Q

what happens in Interphase: S phase?

A

DNA replication/synthesis occurs

76
Q

What happens in Interphase: G2 phase?

A

Additional protein synthesis, basically ensure DNA replication from S phase was done correctly. This is before the next phase of mitosis.

77
Q

M phase is also referred to as :

A

Mitosis

78
Q

What significantly happens in Prophase?

A

DNA has been duplicated, nuclear envelope disappears. Centrioles move to opposite sides of the cell, chromatids form.

79
Q

What significantly happens in Metaphase?

A

Chromosome pairs align at the midline, microtubules form and the centrioles pull at the chromosomes at the midline. (THINK metaphase=middle)

80
Q

What stop significantly happens in Telophase?

A

Nuclear envelope forms, chromosomes uncoil. Cytoplasm organelles divide into 2 new cells.

81
Q

what happens in Meiosis I?

A

germ cells (sperm or ova) replicate and divide so that the daughter cells only has 1 representative of each chromosome pair

82
Q

In females when does Meiosis II begin?

A

It stops in Meiosis I and doesn’t go to Meiosis II until ovulation.

83
Q

what is chiasmata?

A

exchange of genetic material, usually occurs in Meiosis I. Referred to as “crossing over”

84
Q

What is X inactivation?

A

Occurs in females, one of the sex chromosome (XX) is inactivated

85
Q

what are the DNA base pairs?

A

Adenine with Thymine

Cytosine with Guanine

86
Q

what direction is DNA read?

A

3 prime to 5 prime

87
Q

In DNA replication/duplication what direction is DNA constructed in ?

A

5 prime to 3 prime

88
Q

what is the sense strand of DNA?

A

Contains the blueprint for protein synthesis

89
Q

what is the antisense strand?

A

It is the foundation or template for transcribing mRNA that directs protein assembly for amino acids.

90
Q

what’s important to know about mitochondrial DNA?

A

passed from the mother to offspring

more susceptible to damage than nuclear DNA

91
Q

what are introns?

A

They are sections of DNA between genes that contain bases that do not code for a polypeptide

92
Q

Describe a deletion mutation

A

One or more bases are dropped out of the DNA strand

93
Q

Pork insulin differs from human insulin in:

A

Only differs by 1 amino acid on the B-chain, alanine is substituted for thymine

94
Q

Beef insulin differs from human insulin in:

A

Has 3 base differences, 2 on the a-chain and 1 on the b-chain

95
Q

What is an important difference in mitochondrial and nuclear DNA ?

A

Mitochondrial DNA is more susceptible to damage than nuclear DNA

96
Q

What is an example of protective polymorphism?

A

HIV (human immunodeficiency virus)

97
Q

What is an example of an X-linked recessive disorder?

A

Hemophilia A, usually receives it from their mother, occurs in males

98
Q

What protein is associated with hemophilia A?

A

Factor 8 (VIII) protein deficiency; needed for blood clotting

99
Q

What is the main electrolyte affected in cystic fibrosis?

A

Chloride, chloride is secreted instead of being reabsorbed loss of salt

100
Q

What does the CFTR protein do?

A

Serves as a channel for chloride and helps regulate sodium

101
Q

What is the protein used in cystic fibrosis?

A

CFTR

Cystic fibrosis transmembrane regulator

102
Q

What are the s/s of tay-Sachs disease?

A

It’s a progressive disease, child can become deaf, blind, unable to swallow, and paralysis.

103
Q

Cystic fibrosis is in relation to which chromosome?

A

Chromosome 7.Q 31.1

104
Q

What is tay-Sachs disease?

A

Beta-hexosamidase A deficiency; this enzyme catalyzes the biodegradation of acidic fatty materials known as gangliosides.
(Side note: autosomal recessive disorder, both parents are carriers)

105
Q

What type of gene disorder is Tay Sachs disease an example of?

A

A single gene disorder

106
Q

Beef insulin differs from human insulin by how many and by which chain?

A

Beef insulin differs from human insulin for a total of 3 based. 2 bases on the A chain and 1 base on the B chain

107
Q

What base is substituted for pork insulin?

A

Alaine is substituted for thymine

108
Q

Pork insulin differs from human insulin by how many amino acids and on what protein chain?

A

It differs from human insulin by only 1 amino acid and it is on the B chain.

109
Q

What is an intron?

A

A non-coding segment spliced out of mRNA.

110
Q

What is an Exon?

A

A segment of mRNA that codes for proteins

111
Q

How many chromosomes does a somatic cell have?

A

23

112
Q

People who have down syndrome have a higher risk for developing what disease because of the involvement of chromosome 21?

A

Alzheimer’s disease

113
Q

People who have the chromosomes 47, XXY karyotype have what kind of syndrome?

A

Klinefelter syndrome

114
Q

What is interchanging of genetic material between non-homologous chromosomes?

A

Translocation

115
Q

Describe monosomy

A

One chromosome and somatic cells has only one copy instead of the normal two copies

116
Q

Describe trisomy

A

Chromosomes in somatic cells have three copies instead of the normal two

117
Q

In proteins synthesis, what comes first transcription or translation?

A

Transcription comes first then translation

118
Q

How many chromosomes does a diploid cell have? How many chromosomes does a haploid cell have?

A

Diploid has 46 chromosomes; haploid cell has 23 chromosomes

119
Q

What is polyploidy?

A

A condition in which cells have more than two copies of each chromosome

120
Q

What is nondisjunction?

A

An error during cell division in which homologous chromosomes or sister chromatids f
FAIL to separate normally.

121
Q

What chromosome is associated with Prader-Willi syndrome?

A

It is caused by Chromosomal Deletion on the chromosome 15, which is inherited from the father.

122
Q

What is imprinting?

A

Gene silencing on one copy of a chromosome (but not on the other depending which parent transmit the chromosome. )

Simply: transcriptionally silenced

123
Q

If a deletion occurs on the chromosome 15 from the mothers the child will develop what?

A

Angelman syndrome

Cassandra's Advanced Pathophysiology (9 decks)

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