Exam 1 Flashcards
1
Q
Genetics
A
Study of inherited traits and their variations and transmission
2
Q
Genetic genealogy
A
Examines how people are related
3
Q
Heredity
A
Concerns the transmission of traits and biological information between generations
4
Q
Genes
A
instructions to manufacture proteins which determine inherited traits
5
Q
Genome
A
complete set of genetic information
6
Q
Cell
A
basic unit of life, contains two genomes (one maternal, one paternal)
7
Q
Exome
A
part of genome that encodes protein
8
Q
Genomics
A
compares and analyzes the functions of many genes
9
Q
Bioethics
A
addresses issues and controversies that arise in applying medical technology and using different genetic information
10
Q
Levels of genetic information
A
Molecular level, cells, tissues, organs, individuals, families, populations, and evolution of species
11
Q
DNA
A
composed of phosphate, sugar, and a base (Adenine, Thymine, Cytosine, and Guanine)
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
13
Q
Transcription
A
Copies the DNA information into a related molecule called messenger ribonucleic acid (RNA)
14
Q
Transcription is also called
A
Gene Expression
15
Q
Translation
A
Uses the information in RNA to assemble amino acids into proteins
16
Q
What do proteins provide
A
Traits associated with genes
17
Q
Mutation
A
A change in a gene sequence that can have an effect at the whole-person level
18
Q
Alleles
A
variants of genes that are inherited or arise by mutations
19
Q
Where do mutations that pass onto the next generation occur
A
Sperm or egg cells
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
21
Q
Chromosomes
A
consist of DNA and protein
22
Q
When a cell is not dividing, how are chromosomes stored?
A
Unwound and in the nucleus
23
Q
How many chromosome pairs does a somatic cell have?
A
23 pairs (46 total)
24
Q
How many autosomes
A
22 pairs
25
How many sex chromosomes
1 pair
26
Karyotypes
Display the chromosome pairs from largest to smallest
27
What are the 4 tissue types in cells
Connective tissues, epithelium, muscle, nerbous
28
Somatic cells
body cells that are diploid
29
Germ Cells
Sperm and egg cells and are haploid
30
Stem cells
diploid cells that divide to give rise to differentiated cells, and to other stem cells in a process called self-renewal
31
Archaea and Bacteria
Unicellular prokaryotes
32
Eukarya
Includes both unicellular and multicellular eukaryotes
33
Macromolecules that make up cells
Carbohydrates Lipids Proteins and Nucleic Acids
34
Carbohydrates
Provide energy and contribute to cell structure
35
Lipids
form the basis of some hormones, form membranes, provide insulation, and store energy
36
Proteins
Have many diverse functions such as forming the contractile fibers of muscle cells, enabling blood to clot, anf forming the bulk of connective tissue
37
Enzymes
important proteins that facilitate/catalyze biochemical reactions
38
Nucleic Acids
DNA and RNA are the most important macromolecules to the study of genetics
39
Organelles
Divide labor by partitioning certain areas or serving specific functions, keep related biochemicals and structures close to one another to interact efficiently
40
What does the nucleus contain
nuclear pores, nuclear lamina, nucleolus, chromosomes RNA and nucleoplasm
41
Nuclear Pores
Allow movement of biochemicals
42
Nuclear Lamina
provides mechanical support and holds nuclear pores in place
43
Nucleolus
Produces ribosomes
44
Secretion
illustrates how organelles function together to coordinate basic life functions
45
Endoplasmic reticulum
Interconnected membranous tubules and sacs, winds from the nuclear envelope to the plasma membrane
46
Rough ER vs Smooth ER
rough ER contains ribosomes and is involved in protein synthesis, smooth ER does not contain ribosomes and is important in lipid synthesis
47
What do proteins exit the ER in?
Membrane-bounded, saclike organelles called vesicles
48
Golgi Apparatus
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
49
Lysosomes
Membrane-bound sacs containing 43 types of digestive enzymes
Dismantle bacterial remnants, worn-
out organelles, and excess cholesterol
50
Mitochondria
provide energy by breaking chemical
bonds that hold together nutrient
molecules in food
51
Endosomes
vesicles derived from the plasma membrane that ferry materials to lysosomes.
52
What is freed energy in mitochondria stored in
adenosine triphosphate (ATP)
53
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?
Lysosomes
54
Biological membrane composition
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.
55
Peroxisomes
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.
56
Signal transduction
Molecules form pathways that detect signals from outside the cell and transmit them inward
57
Cellular adhesion
Plasma membrane helps attach to certain other cells
58
The cytoskeleton
A meshwork of protein rods and tubules that serves as the cell's architecture, positioning organelles and providing overall 3D shapes
59
Microtubules
made of tubulin
60
Solid microfilaments
consist of actin
61
Intermediate filaments
Made of more than one protein type
62
Growth, development, maintaining health, and healing from disease or injury require an intricate interplay between the rates of
Mitosis and cytokinesis as well as apoptosis
63
Mitosis and cytokinesis
division of DNA and rest of the cell
64
Apoptosis
Cell death, begins when a "death receptor" on the plasma membrane receives a signal to die, killer enzymes called caspases are activated
65
Cell cycle
the sequence of events associated with division
66
Interphase
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
When does replication happen
During S phase
68
Prophase
Condensed chromosomes take up
the stain. The spindle assembles, centrioles appear, and the nuclear envelope breaks down.
69
Metaphase
Chromosomes align and attach to the spindle at their centromeres
70
Anaphase
Centromeres part and chromatids separate
71
Telophase
The spindle disassembles and the nuclear envelope re-forms
72
Why are checkpoints important in the cell cycle
Ensure that chromosomes are correctly replicated and apportioned into daughter cells
73
Telomeres
located at the ends of the chromosomes that contain hundreds to thousands of repeats of a 6-base DNA sequence.
74
Telomerase
an enzyme that prevents telomeres from being shortened. sperm, eggs, bone marrow and cancer cells produce this
75
Hormone
made in a gland and transported in the bloodstream to another part of the body
76
Growth factor
acts locally, etc. Epidermal growth factor (EGF) stimulates cell division in the skin beneath
a scab
77
Necrosis
Another form of cell death associated with inflammation and damage rather than an orderly, contained destruction
78
Stem cells
Divides by mitosis that produces two daughter cells or a stem cell and a progenitor cell, which may be partially specialized
79
What do progenitor cells not have the capacity of
Self-renewal
80
Totipotent
Can give rise to every cell type
81
Pluripotent
Have fewer possible fates
82
Multipotent
Have only a few developmental choices
83
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?
Pluripotent, iPS
84
Sex is described based on groupings of 4 biologic traits, what are they?
Genetics, Gonads, Hormone levels, Genitals
85
What does each reproductive system have?
Paired structures, called gonads, tubular structures that transport these cells, hormones and secretions that control reproduction
86
Where do oocytes mature
Ovaries
87
What controls oocyte maturation
Hormones
88
Similarities between male and female reproductive systems
both have gonads, both come in pairs
89
Differences between male and female reproductive systems
Testes are outside the body, time tables of sex organ development is vastly different
90
Spindle
Protein structure made up of spindle fibers that divides the chromosomes in a parental cell into the two new daughter cells
91
Centriole
microtubule organizing center
92
Cytokinesis
physical process of cell division
93
Meiosis
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
Gametes are ____ and somatic cells are ____ for each chromosome
Haploid, Diploid
95
Meiosis I
Reduces the number of chromosomes from 46 to 23
96
Prophase I
A spindle forms.
* Homologs pair-up and undergo crossing over.
* Chromosomes condense.
* Synapsed (paired up) chromosomes separate
97
Metaphase I
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
Anaphase I
Homologous chromosomes
(homologs) separate to opposite poles of cell.
Unlike in mitosis, the centromeres of each
replicated chromosome in meiosis I remain
together.
99
Telophase I
Nuclear envelopes partially
assemble around chromosomes. Spindle
disappears. Cytokinesis divides cell into two.
- Homologs move to opposite poles by telophase 1
100
Meiosis II
Produces four cells from the two produced in Meiosis I
101
Prophase II and Metaphase II
Chromosomes are again condensed and visible
Chromosomes align along the equator of the cell
102
Anaphase II and Telophase II
Centromeres divide, newly formed unreplicated chromosomes move to poles, nuclear envelope reforms, separate into individual cells
103
When does male reproduction begin
A male begins manufacturing sperm at puberty and continues throughout life, whereas a female begins meiosis when she is a fetus
104
When does female reproduction begin
Meiosis in the female is completed only if a sperm fertilizes an oocyte
105
Result of Meiosis
Four non-identical haploid daughter cells, each carries a new assortment of genes and chromosomes that hold one copy of the genome
106
Spermatogenesis
A diploid spermatogonium divides by mitosis to produce a stem cell and another cell that specializes into a mature sperm
107
What happens in spermatogenesis during Meiosis I
The primary spermatocyte produces two haploid secondary spermatocytes
108
What happens in spermatogenesis during Meiosis II
Each secondary spermatocyte produces two equal-sized spermatids
109
What do spermatids mature into?
Tadpole-shaped spermatozoa
110
What does oogenesis begin with
A diploid oogonium
111
What happens with oogenesis during meiosis I
The primary oocyte divides unequally forming a small polar body and a large secondary oocyte
112
What happens with oogenesis during meiosis II
The secondary oocyte divides to form another polar body and a mature ovum
113
When is meiosis completed for oogenesis
Only if the ovum is fertilized
114
Is oogenesis continuous or discontinuous?
Discontinuous
115
At what stage do oocytes arrest and when do they continue progressing
Arrest at prophase I and progress at puberty
116
Paternal age effect
These effects can arise from stem cells in testes that divide every 16 days, from puberty on
117
When does the embryonic period begin?
When the fertilized ovum divides by mitosis
118
Morula
developing embryo becomes a solid ball of 16+ cells
119
Blastocyst
the ball of cells hollows out, and its center fills with fluid
120
Blastomeres
Resulting early cells of fertilization
121
Trophoblast
outermost blastocyst cells
122
When do the primary germ layers form
The second week after fertilization
123
Monogenic
diseases caused by mutations in single genes
124
Modes of inheritance
Patterns in which single-gene traits and disorders occur in families
125
Autosomal dominant
Affects both sexes and appears in every generation
-only need 1 copy of the allele to cause the trait
126
Autosomal recessive
Affects both sexes and can skip generations through carriers
-need 2 copies of the allele to cause the trait
-ex. cystic fibrosis
127
True-breeding
Offspring have the same trait as parent
128
Monohybrid Cross
Follows one trait, self-crossed plants are hybrids
129
Law of segregation
Medel's idea that elements separate in gametes
130
Genotype
Organism's alleles
131
Phenotype
Outward expression of an allele combination
132
Mendelian ratios
Genotypic and phenotypic ratios expected from each generation under single gene inheritance model
133
Lethal alleles
A phenotypic class does not survive to reproduce
134
Multiple alleles
Many variants or degrees of a phenotype are possible
135
Incomplete dominance
A heterozygote's phenotype is intermediate between those of the two homozygotes
136
Codominance
A heterozygote's phenotype is distinct from and not intermediate between those of the two homozygotes
137
Epistasis
One gene masks or otherwise affects another's phenotype
138
Penetrance
Some individuals with a particular genotype do not have the associated phenotype
139
Expressivity
A genotype is associated with a phenotype of varying intensity
140
Pleiotropy
The phenotype includes many symptoms, with different subsets in different individuals
141
Phenocopy
An environmentally caused condition has symptoms and recurrence pattern similar to those of a known inherited trait
142
Genetic heterogeneity
Genotypes of different genes cause the same phenotype
143
What did the human genome sequence add perspective to?
Revealed that complications to Mendelian inheritance are more common than originally thought
144
What kind of DNA do mitochondrion contain and how many genes?
Small circular DNA called mtDNA that contains 37 genes
145
Mitochondrial DNA verses nuclear DNA
*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
Mitochondrial myopathies
Week and flaccid muscles
147
Leber optical atrophy
Impaired vision
148
Heteroplasmy
condition where the mtDNA sequence is not the same in all copies of the genome
