Test 4 Flashcards
1
Q
Correcting or replacing mutated genes as a treatment for a genetic disease
A
Gene Therapy
2
Q
the oxygen-carrying protein in read blood cells
A
Hemoglobin
3
Q
One of the proteins that makes up hemoglobin
A
beta-globin
4
Q
A change in the nucleotide sequence of a DNA molecule
A
Mutation
5
Q
A mutation that alters a single DNA nucleotide
A
Point Mutation
6
Q
A point mutation that changes the amino acid sequence of the encoded protein.
A
Missense mutations
7
Q
A point mutation that does not change the amino acid sequence of the encoded protein
A
Silent Mutations
8
Q
A shift in the reading frame, such that codons start and end at an alternative position
A
Frameshift mutations
9
Q
Any chemical or physical agent that can damage DNA by changing its nucleotide sequence
A
mutagens
10
Q
A way to change the sequence of a gene
A
gene editing
11
Q
A genome-editing tool based on a natural defense system in bacteria
A
CRISPER
12
Q
nonreproductive cells of the body
A
somatic cells
13
Q
reproductive cells of the body
A
germ cells
14
Q
differently shaped red blood cells that do not flow well through blood vessels, caused by a genetic mutation in the beta-globin gene.
A
Sickle Cell Disease
15
Q
Types of mutations
A
point, frameshift, rearranged DNA
16
Q
Silent mutation, Missense Mutation, nonsense mutation
A
Point Mutations
17
Q
Insertion mutation, deletion mutation
A
Frameshift Mutations
18
Q
Inversion mutation, translocation mutation
A
Rearranged DNA mutations
19
Q
Change one nucleotide; introduces early stop codon–protein is too short and therefore not functional
A
nonsense mutation
20
Q
Insert one or more nucleotides; shifts the reading frame of every codon after the insertion–severely modified sequence makes the protein not functional
A
Insertion Mutation
21
Q
Delete one or more nucleotides; shifts the reading frame of every codon after the deletion–severely modified sequence makes the protein not functional
A
Deletion mutation
22
Q
A group of DNA nucleotides are flipped to read in reverse order; different amino acid sequences in this location–change in protein shape and function
A
Inversion mutation
23
Q
Move segments of DNA from one chromosome to another, fusing portions of different genes together–a significant change in protein shape and function
A
Translocation mutation
24
Q
Change one nucleotide to another; no change in amino acid sequence–no change; normal function
A
silent mutation
25
Change one nucleotide to another; different amino acid sequence in the location--change in protein shape and function
Missense mutation
26
UV radiation, X-rays, smoking, pollution
Mutagens
27
a disease in which cells divide repeatedly and without restraint, in some cases a tumor
Cancer
28
The process by which a cell reproduces itself; cell division is important for the normal growth, development, maintenance, and repair of an organism
Cell division
29
The ordered sequence of stages through which a cell progresses to divide; g1, s, g2
Cell Cycle
30
The stage of the cell cycle in which dividing cells spend most of their time, preparing for cell division; subphases g1, s, g2
Interphase
31
The two identical DNA molecules that result from the replication of a chromosome during the S phase.
Sister Chromatids
32
The segregation and separation of replicated chromosomes during cell division
Mitosis
33
The physical division of a cell into two daughter cells
Cytokinesis
34
Any substance that causes cancer
Carcinogens
35
A cellular mechanism that ensures that a stage of the cell cycle is completed accurately
Cell Cycle checkpoints
36
A type of cell death; often referred to as cellular suicide
Apoptosis
37
A mass of cells resulting from uncontrolled cell division
Tumor
38
The specialized region of a chromosome where the sister chromatids are joined; it is critical for proper alignment and separation of sister chromatids during mitosis
Centromere
39
The Microtubule-based structure that separates sister chromatids during mitosis
Mitotic spindle
40
Cancers that are caused by non-inherited (acquired) mutations
Sporadic
41
A gene that codes for a protein that helps cells divide normally
Proto-oncogenes
42
A gene that codes for a protein that monitors and checks cell cycle progression. When these genes mutate lose normal function
Tumor suppressor genes
43
A mutated and overactive form of a proto-oncogene drives cells to divide continually
Oncogenes
44
A noncancerous tumor whose cells will not spread throughout the body
Benign Tumor
45
A cancerous tumor whose cells can spread throughout the body
malignant tumor
46
The spread of cancer cells from one location in the body to another
Metastasize
47
A characteristic of normal cells that prevents them from dividing once they have filled a space and are in contact with their neighbors
contact inhibition
48
the need for normal cells to be in physical contact with another layer of cells or a surface
anchorage dependence
49
The growth of new blood vessels
angiogenesis
50
Treatment using toxic chemicals that kill cancer by interfering with cell division
chemotherapy
51
The use of ionizing (high energy) radiation to treat cancer
radiation therapy
52
A cancer therapy that is specific for cancer cells and not harmful to normal cells
Targeted Therapies
53
A cancer therapy that uses the immune system to recognize and destroy cancer cells
Immunotherapies
54
An x-ray of the breast
Mammogram
55
Genes BRCA1 and BRCA2
indicators of breast cancer risk
56
Located on chromosomes 17 and 13
BRCA mutations
57
Reasons cells divide
Growth and development, cell replacement, heal wounds
58
Interphase, Mitosis, Cytokinesis
Cell phases
59
Preparatory steps before cell division, G1, S, G2 phases, involves growth and duplications of chromosomes
Interphase
60
Cell grows, makes extra cytoplasm
G1 Phase
61
DNA replication occurs, chromosomes form identical sister chromatids
S phase
62
Cell prepares for division
G2 Phase
63
Chromosomes line up, small fibers attach to centromers on each sister chromatid; one of each sister chromatid ends up in each side of the cell
Mitosis
64
Enlarged cell splits into two cells, each has full complement of DNA, starts with one parent cell undergoing mitosis, ends with two daughter cells
Cytokinesis
65
Interphase, Prophase, Metaphase, anaphase, telophase
Phases of Mitosis
66
Fibers called microtubules shorten, seperating sister chromatids
Anaphase
67
Daughter cell nuclei are formed
Telophase
68
Chromosomes are loosely gathered in the nucleus
Interphase
69
Chromosomes begin to coil up
Prophase
70
Chromosomes align in the middle of the cell
metaphase
71
Normally promote cell division and differentiation, can be mutated to become permanently activated, when mutated they become oncogenes
Proto-oncogenes
72
normally pause cell division, repair DNA, or initiate cell death, can be mutated to become inactivated. Ex. BRCA1 and BRCA2
Tumor suppressor genes
73
Any of the alternative versions of the same gene that have different nucleotide sequences
Alleles
74
having two copies of every chromosome
Diploid
75
A pair of chromosomes that both contain the same genes; the pair is inherited from the mother, the other from the father
homologous chromosomes
76
The visible or measurable features of an individual
Phenotype
77
The particular genetic makeup of an individual
genotype
78
Specialized reproducive cells that carry one copy of each chromosome; sperm and eggs
gametes
79
having only one copy of every chromosome
haploid
80
A typed of cell division that generates genetically unique haploid gametes
meiosis
81
A diploid cell that is capable of developing into an adult organism; formed when a haploid egg is fertilized by a haploid sperm
zygote
82
An early stage of development reached when a zygote undergoes cell division to form a multicellular structure
embryo
83
An even in meiosis during which maternal and paternal chromosomes pair and physically exchange DNA segments
recombination
84
The principle that alleles of different genes are distributed independently of one another during meiosis
Independent assortment
85
An allele that reveals itself in the phenotype only if a masking dominant allele is not present
recessive allele
86
An allele that can mask the presence of a recessive allele
dominant allele
87
having two different alleles for a given gene
heterozygous
88
having to identical alleles for a given gene
Homozygous
89
a diagram used to determine probabilities of offspring having particular genotypes, given the genotypes of the parents
Punnett square
90
An individual who is heterozygous for a recessive allele and can therefore pass it on to offspring without showing any of its effects
carrier
91
genetic disease caused by a single gene mutation; change in nucleotide sequence of DNA; creates a new mutant allele; allele of the CFTR gene; mutated version fo CFTR that fails to move ions
Cystic Fibrosis
92
located on chromosomes which are physically transmitted from parent to offspring
Genes
93
seperates homologous chromosomes instead of sister chromatids, each daughter cell is a haploid, each chromosome still has two sister chromatids
Meiosis I
94
Seperates sister chromatids, four haploid daughter cells, develop into an egg or sperm
meiosis II
95
ovaries in females; testes in males
gonads
96
A class of sex hormones, including testosterone, that are present in higher levels in men and cause male-associated traits like deep voice, growth of facial hair, and defined musculature
androgens
97
A class of sex hormones, including estrodol, that are present in higher levels in women than in men and that support female sexual development and function
Estrogens
98
paired chromosomes present in both males and females; all chromosomes except the X and Y chromosomes
autosomes
99
Paired chromosomes that differ between males and females; females have XX and males have XY
sex chromosomes
100
A phenotype determined by an allele on an X chromosome
X-linked traits
101
A visual representation of the occurence of phenotypes across generations
Pedigree
102
The comparison of sequences on the Y chromosomes of different individuals to examine paternity and paternal ancestry
Y-Chromosome analysis
103
A form of inhertiance in whch heterozygotes have a phenotype that is intermediate between the two homozygotes
incomplete dominance
104
A form of inheritance in which the effects of both alleles are displayed int he phenotype of a heterozygote
codominance
105
variation in a population showing an unbroken range of phenotypes rather than discrete categories
continuous variation
106
A trait whose phenotype is determined by the interaction among alleles of more than one gene
polygenic trait
107
An interaction between genes and the environment that contributes to a phenotype or trait
multifactorial
108
changes in gene expression that are not based on changes int he DNA sequence
epigenetics
109
An abnormal number of one or more chromosomes either extra or missing copies
aneuploidies
110
The failure of chromosomes to seperate accurately during cell division; leads to aneuploid gametes
nondisjunction
111
Having an extra copy of chromosome 21; also known as down syndrome
Trisomy 21
112
A procedure that removes fluid surrounding the fetus so as to obtain and analyze the chromosomal makeup of fetal cells
amioncetsis
113
The chromosomal makeup of cells, analysis can be used to detect chromosomal disorders prenatally
karotype
114
signals the testes to develop
SRY gene on the Y chromosome
115
A, B, and O
Blood group Allele
116
can give to any other bllod type
Type o and RH -
117
a process that tends to decrease gene expression
methylation
