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PUBHLTH 311 > Exam 1 > Flashcards

Exam 1 Flashcards

1
Q

Genetics

A

Study of inherited traits and their variations and transmission

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2
Q

Genetic genealogy

A

Examines how people are related

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3
Q

Heredity

A

Concerns the transmission of traits and biological information between generations

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4
Q

Genes

A

instructions to manufacture proteins which determine inherited traits

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5
Q

Genome

A

complete set of genetic information

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6
Q

Cell

A

basic unit of life, contains two genomes (one maternal, one paternal)

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7
Q

Exome

A

part of genome that encodes protein

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8
Q

Genomics

A

compares and analyzes the functions of many genes

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9
Q

Bioethics

A

addresses issues and controversies that arise in applying medical technology and using different genetic information

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10
Q

Levels of genetic information

A

Molecular level, cells, tissues, organs, individuals, families, populations, and evolution of species

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11
Q

DNA

A

composed of phosphate, sugar, and a base (Adenine, Thymine, Cytosine, and Guanine)

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12
Q

DNA Replication

A

A new double helix is formed from the old one using free DNA bases, thus the two daughter cells inherit identical copies of the genome during cell division

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13
Q

Transcription

A

Copies the DNA information into a related molecule called messenger ribonucleic acid (RNA)

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14
Q

Transcription is also called

A

Gene Expression

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15
Q

Translation

A

Uses the information in RNA to assemble amino acids into proteins

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16
Q

What do proteins provide

A

Traits associated with genes

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17
Q

Mutation

A

A change in a gene sequence that can have an effect at the whole-person level

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18
Q

Alleles

A

variants of genes that are inherited or arise by mutations

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19
Q

Where do mutations that pass onto the next generation occur

A

Sperm or egg cells

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20
Q

Cystic Fibrosis mutation

A

caused by a mutation in the CFTR gene, cause the replacement of the amino acid glycine with aspartic acid

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21
Q

Chromosomes

A

consist of DNA and protein

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22
Q

When a cell is not dividing, how are chromosomes stored?

A

Unwound and in the nucleus

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23
Q

How many chromosome pairs does a somatic cell have?

A

23 pairs (46 total)

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24
Q

How many autosomes

A

22 pairs

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25
Q

How many sex chromosomes

A

1 pair

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26
Q

Karyotypes

A

Display the chromosome pairs from largest to smallest

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27
Q

What are the 4 tissue types in cells

A

Connective tissues, epithelium, muscle, nerbous

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28
Q

Somatic cells

A

body cells that are diploid

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29
Q

Germ Cells

A

Sperm and egg cells and are haploid

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30
Q

Stem cells

A

diploid cells that divide to give rise to differentiated cells, and to other stem cells in a process called self-renewal

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31
Q

Archaea and Bacteria

A

Unicellular prokaryotes

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32
Q

Eukarya

A

Includes both unicellular and multicellular eukaryotes

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33
Q

Macromolecules that make up cells

A

Carbohydrates Lipids Proteins and Nucleic Acids

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34
Q

Carbohydrates

A

Provide energy and contribute to cell structure

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35
Q

Lipids

A

form the basis of some hormones, form membranes, provide insulation, and store energy

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36
Q

Proteins

A

Have many diverse functions such as forming the contractile fibers of muscle cells, enabling blood to clot, anf forming the bulk of connective tissue

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37
Q

Enzymes

A

important proteins that facilitate/catalyze biochemical reactions

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38
Q

Nucleic Acids

A

DNA and RNA are the most important macromolecules to the study of genetics

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39
Q

Organelles

A

Divide labor by partitioning certain areas or serving specific functions, keep related biochemicals and structures close to one another to interact efficiently

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40
Q

What does the nucleus contain

A

nuclear pores, nuclear lamina, nucleolus, chromosomes RNA and nucleoplasm

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41
Q

Nuclear Pores

A

Allow movement of biochemicals

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42
Q

Nuclear Lamina

A

provides mechanical support and holds nuclear pores in place

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43
Q

Nucleolus

A

Produces ribosomes

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44
Q

Secretion

A

illustrates how organelles function together to coordinate basic life functions

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45
Q

Endoplasmic reticulum

A

Interconnected membranous tubules and sacs, winds from the nuclear envelope to the plasma membrane

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46
Q

Rough ER vs Smooth ER

A

rough ER contains ribosomes and is involved in protein synthesis, smooth ER does not contain ribosomes and is important in lipid synthesis

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47
Q

What do proteins exit the ER in?

A

Membrane-bounded, saclike organelles called vesicles

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48
Q

Golgi Apparatus

A

stack of interconnected flat, membrane-enclosed sacs, processing center that adds sugars forming glycoproteins and glycolipids, products are released into vesicles that bud off to the plasma
membrane, Some cell types have just a few Golgi apparatuses, but those that secrete may have hundreds

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49
Q

Lysosomes

A

Membrane-bound sacs containing 43 types of digestive enzymes
Dismantle bacterial remnants, worn-
out organelles, and excess cholesterol

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50
Q

Mitochondria

A

provide energy by breaking chemical
bonds that hold together nutrient
molecules in food

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51
Q

Endosomes

A

vesicles derived from the plasma membrane that ferry materials to lysosomes.

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52
Q

What is freed energy in mitochondria stored in

A

adenosine triphosphate (ATP)

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53
Q

In the form of Parkinson’s disease, a protein called alpha-synuclein accumulates because of impaired autophagy.
Which organelle do you suspect is involved in this process?

A

Lysosomes

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54
Q

Biological membrane composition

A

Composed of a double layer (bilayer) of
molecules called phospholipids.
Phosphate: hydrophilic (“water loving”)
2 fatty acid chains: hydrophobic (“water
hating”)
Proteins are embedded in the
phospholipid bilayer.
It contains carbohydrate molecules on
the external surface.

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55
Q

Peroxisomes

A

Sacs with outer membranes studded with several types of enzymes
* Break down lipids, rare biochemicals
* Synthesize bile acids
* Detoxify compounds from exposure to oxygen free radicals
* Abundant in liver and kidney cells
* Adrenoleukodystrophy is an example of a genetic disease caused by
an absent peroxisomal enzyme.

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56
Q

Signal transduction

A

Molecules form pathways that detect signals from outside the cell and transmit them inward

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57
Q

Cellular adhesion

A

Plasma membrane helps attach to certain other cells

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58
Q

The cytoskeleton

A

A meshwork of protein rods and tubules that serves as the cell’s architecture, positioning organelles and providing overall 3D shapes

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59
Q

Microtubules

A

made of tubulin

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60
Q

Solid microfilaments

A

consist of actin

61
Q

Intermediate filaments

A

Made of more than one protein type

62
Q

Growth, development, maintaining health, and healing from disease or injury require an intricate interplay between the rates of

A

Mitosis and cytokinesis as well as apoptosis

63
Q

Mitosis and cytokinesis

A

division of DNA and rest of the cell

64
Q

Apoptosis

A

Cell death, begins when a “death receptor” on the plasma membrane receives a signal to die, killer enzymes called caspases are activated

65
Q

Cell cycle

A

the sequence of events associated with division

66
Q

Interphase

A

Prepares for cell division, chromosomes are uncondensed
Chromosomes are replicated during S phase
before mitosis
* Result in each chromosome consisting of two
copies joined at the centromere
* Proteins forming the mitotic spindle are
synthesized
* Microtubules form centrioles near the nucleus

67
Q

When does replication happen

A

During S phase

68
Q

Prophase

A

Condensed chromosomes take up
the stain. The spindle assembles, centrioles appear, and the nuclear envelope breaks down.

69
Q

Metaphase

A

Chromosomes align and attach to the spindle at their centromeres

70
Q

Anaphase

A

Centromeres part and chromatids separate

71
Q

Telophase

A

The spindle disassembles and the nuclear envelope re-forms

72
Q

Why are checkpoints important in the cell cycle

A

Ensure that chromosomes are correctly replicated and apportioned into daughter cells

73
Q

Telomeres

A

located at the ends of the chromosomes that contain hundreds to thousands of repeats of a 6-base DNA sequence.

74
Q

Telomerase

A

an enzyme that prevents telomeres from being shortened. sperm, eggs, bone marrow and cancer cells produce this

75
Q

Hormone

A

made in a gland and transported in the bloodstream to another part of the body

76
Q

Growth factor

A

acts locally, etc. Epidermal growth factor (EGF) stimulates cell division in the skin beneath
a scab

77
Q

Necrosis

A

Another form of cell death associated with inflammation and damage rather than an orderly, contained destruction

78
Q

Stem cells

A

Divides by mitosis that produces two daughter cells or a stem cell and a progenitor cell, which may be partially specialized

79
Q

What do progenitor cells not have the capacity of

A

Self-renewal

80
Q

Totipotent

A

Can give rise to every cell type

81
Q

Pluripotent

A

Have fewer possible fates

82
Q

Multipotent

A

Have only a few developmental choices

83
Q

A participant had a liposuction surgery to remove adipose tissue. Stem cells isolated from the adipose tissue can give rise to muscle, fat, bone and cartilage cells.
* Are the stem cells totipotent or pluripotent?
* Are these stem cells ES cells, iPS cells, or adult stem cells?

A

Pluripotent, iPS

84
Q

Sex is described based on groupings of 4 biologic traits, what are they?

A

Genetics, Gonads, Hormone levels, Genitals

85
Q

What does each reproductive system have?

A

Paired structures, called gonads, tubular structures that transport these cells, hormones and secretions that control reproduction

86
Q

Where do oocytes mature

A

Ovaries

87
Q

What controls oocyte maturation

A

Hormones

88
Q

Similarities between male and female reproductive systems

A

both have gonads, both come in pairs

89
Q

Differences between male and female reproductive systems

A

Testes are outside the body, time tables of sex organ development is vastly different

90
Q

Spindle

A

Protein structure made up of spindle fibers that divides the chromosomes in a parental cell into the two new daughter cells

91
Q

Centriole

A

microtubule organizing center

92
Q

Cytokinesis

A

physical process of cell division

93
Q

Meiosis

A

Gametes form from special cells called germ line cells, halves the chromosome number, homologous pairs have the same genes in the same order but carry different alleles, or variants of the same gene

94
Q

Gametes are ____ and somatic cells are ____ for each chromosome

A

Haploid, Diploid

95
Q

Meiosis I

A

Reduces the number of chromosomes from 46 to 23

96
Q

Prophase I

A

A spindle forms.
* Homologs pair-up and undergo crossing over.
* Chromosomes condense.
* Synapsed (paired up) chromosomes separate

97
Q

Metaphase I

A

Homologous pairs align along the equator of the cell.
* Random alignment of chromosomes causes independent assortment of the genes that they carry, e.g. all maternal chromosomes will not be separated into one cell

98
Q

Anaphase I

A

Homologous chromosomes
(homologs) separate to opposite poles of cell.
Unlike in mitosis, the centromeres of each
replicated chromosome in meiosis I remain
together.

99
Q

Telophase I

A

Nuclear envelopes partially
assemble around chromosomes. Spindle
disappears. Cytokinesis divides cell into two.
- Homologs move to opposite poles by telophase 1

100
Q

Meiosis II

A

Produces four cells from the two produced in Meiosis I

101
Q

Prophase II and Metaphase II

A

Chromosomes are again condensed and visible
Chromosomes align along the equator of the cell

102
Q

Anaphase II and Telophase II

A

Centromeres divide, newly formed unreplicated chromosomes move to poles, nuclear envelope reforms, separate into individual cells

103
Q

When does male reproduction begin

A

A male begins manufacturing sperm at puberty and continues throughout life, whereas a female begins meiosis when she is a fetus

104
Q

When does female reproduction begin

A

Meiosis in the female is completed only if a sperm fertilizes an oocyte

105
Q

Result of Meiosis

A

Four non-identical haploid daughter cells, each carries a new assortment of genes and chromosomes that hold one copy of the genome

106
Q

Spermatogenesis

A

A diploid spermatogonium divides by mitosis to produce a stem cell and another cell that specializes into a mature sperm

107
Q

What happens in spermatogenesis during Meiosis I

A

The primary spermatocyte produces two haploid secondary spermatocytes

108
Q

What happens in spermatogenesis during Meiosis II

A

Each secondary spermatocyte produces two equal-sized spermatids

109
Q

What do spermatids mature into?

A

Tadpole-shaped spermatozoa

110
Q

What does oogenesis begin with

A

A diploid oogonium

111
Q

What happens with oogenesis during meiosis I

A

The primary oocyte divides unequally forming a small polar body and a large secondary oocyte

112
Q

What happens with oogenesis during meiosis II

A

The secondary oocyte divides to form another polar body and a mature ovum

113
Q

When is meiosis completed for oogenesis

A

Only if the ovum is fertilized

114
Q

Is oogenesis continuous or discontinuous?

A

Discontinuous

115
Q

At what stage do oocytes arrest and when do they continue progressing

A

Arrest at prophase I and progress at puberty

116
Q

Paternal age effect

A

These effects can arise from stem cells in testes that divide every 16 days, from puberty on

117
Q

When does the embryonic period begin?

A

When the fertilized ovum divides by mitosis

118
Q

Morula

A

developing embryo becomes a solid ball of 16+ cells

119
Q

Blastocyst

A

the ball of cells hollows out, and its center fills with fluid

120
Q

Blastomeres

A

Resulting early cells of fertilization

121
Q

Trophoblast

A

outermost blastocyst cells

122
Q

When do the primary germ layers form

A

The second week after fertilization

123
Q

Monogenic

A

diseases caused by mutations in single genes

124
Q

Modes of inheritance

A

Patterns in which single-gene traits and disorders occur in families

125
Q

Autosomal dominant

A

Affects both sexes and appears in every generation
-only need 1 copy of the allele to cause the trait

126
Q

Autosomal recessive

A

Affects both sexes and can skip generations through carriers
-need 2 copies of the allele to cause the trait
-ex. cystic fibrosis

127
Q

True-breeding

A

Offspring have the same trait as parent

128
Q

Monohybrid Cross

A

Follows one trait, self-crossed plants are hybrids

129
Q

Law of segregation

A

Medel’s idea that elements separate in gametes

130
Q

Genotype

A

Organism’s alleles

131
Q

Phenotype

A

Outward expression of an allele combination

132
Q

Mendelian ratios

A

Genotypic and phenotypic ratios expected from each generation under single gene inheritance model

133
Q

Lethal alleles

A

A phenotypic class does not survive to reproduce

134
Q

Multiple alleles

A

Many variants or degrees of a phenotype are possible

135
Q

Incomplete dominance

A

A heterozygote’s phenotype is intermediate between those of the two homozygotes

136
Q

Codominance

A

A heterozygote’s phenotype is distinct from and not intermediate between those of the two homozygotes

137
Q

Epistasis

A

One gene masks or otherwise affects another’s phenotype

138
Q

Penetrance

A

Some individuals with a particular genotype do not have the associated phenotype

139
Q

Expressivity

A

A genotype is associated with a phenotype of varying intensity

140
Q

Pleiotropy

A

The phenotype includes many symptoms, with different subsets in different individuals

141
Q

Phenocopy

A

An environmentally caused condition has symptoms and recurrence pattern similar to those of a known inherited trait

142
Q

Genetic heterogeneity

A

Genotypes of different genes cause the same phenotype

143
Q

What did the human genome sequence add perspective to?

A

Revealed that complications to Mendelian inheritance are more common than originally thought

144
Q

What kind of DNA do mitochondrion contain and how many genes?

A

Small circular DNA called mtDNA that contains 37 genes

145
Q

Mitochondrial DNA verses nuclear DNA

A

*mtDNA does not cross over.
* It mutates faster than DNA in the nucleus.
* Fewer types of DNA repair and DNA-damaging oxygen free radicals are produced in the energy reactions.
* Mitochondrial genes are not wrapped in proteins.
* Mitochondrial genes are not “interrupted” by DNA sequences that do not encode protein.
* Mitochondria with different alleles for the same gene can reside in the same cell.

146
Q

Mitochondrial myopathies

A

Week and flaccid muscles

147
Q

Leber optical atrophy

A

Impaired vision

148
Q

Heteroplasmy

A

condition where the mtDNA sequence is not the same in all copies of the genome

PUBHLTH 311 (2 decks)

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