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MCDB 2150 Final > Final > Flashcards

Final Flashcards

1
Q

Three types of dominance

A

complete, incomplete, co-dominance

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2
Q

Recombination

A

the genetic process by which one chromosome breaks off and attaches to another chromosome during reproductive cell division

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3
Q

Meiosis 1

A

The first division of a two-staged process of cell division in sexually reproducing organisms that result in haploid cells with duplicated chromosomes

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4
Q

Meiosis 2

A

Meiosis 2

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5
Q

Interphase 1 (Meiosis)

A

Cells undergo a round of DNA replication, forming duplicate chromosomes

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6
Q

Prophase 1

A

homologous chromosomes pair up and form tetrads (X-shaped structures), crossing over/ recombination occurs

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7
Q

Metaphase

A

homologous pairs (tetrads) align at the equatorial plane and each pair attaches to a separate spindle fiber at the kinetochore

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8
Q

Anaphase

A

Tetrads split up and head to opposite poles. The sister chromatids stay together.

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9
Q

Telophase 1 & Cytokinesis

A

The cell divides into two new cells, and the nuclear membrane appears in each cell.

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10
Q

Prophase 2 (Meiosis 2)

A

Nuclear membrane disappears and chromosomes coil (into X-structures); centrioles replicate and move to opposite poles

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11
Q

Metaphase 2

A

Sister chromatids align at the middle plate

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12
Q

Anaphase 2

A

chromosomes are pulled apart and move to opposite ends of cell

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13
Q

Telophase 2 & cytokinesis

A

A nuclear envelope forms around each set of chromosomes. The cytoplasm divides. Once cytokinesis is complete there are four granddaughter cells, each with half a set of chromosomes (haploid):

  • in males, these four cells are all sperm cells
  • in females, one of the cells is an egg cell while the other three are polar bodies (small cells that do not develop into eggs).
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14
Q

Genotype

A

genetic make up of an organism

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15
Q

Phenotype

A

Visible Traits

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16
Q

Transcription

A

(genetics) the organic process whereby the DNA sequence in a gene is copied into mRNA

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17
Q

Translation

A

The process by which mRNA is decoded and a protein is produced

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18
Q

Insertion Mutation

A

the addition of one or more nucleotide base pairs into a DNA sequence

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19
Q

Deletion Mutation

A

a mutation in which one or more pairs of nucleotides are removed from a gene

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20
Q

Frameshift Mutation

A

mutation that shifts the “reading” frame of the genetic message by inserting or deleting a nucleotide

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21
Q

Missense Mutation

A

A base-pair substitution that results in a codon that codes for a different amino acid.

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22
Q

Silent Mutation

A

A mutation that changes a single nucleotide, but does not change the amino acid created.

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23
Q

Autosomal Recessive Inheritance

A

A pattern of hereditary transmission in which the recessive allele of an autosomal gene results in the appearance of the recessive phenotype. Skips generations, usually seen in only 1 generation.

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24
Q

Autosomal Dominant Inheritance

A

A pattern of hereditary transmission in which the dominant allele of an autosomal gene results in the appearance of the dominant phenotype

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25
X-linked Dominant Inheritance
All females of the affected father are diseased. | Affected mother can pass on the disease to both male and female offspring.
26
X-linked Recessive Inheritance
No male to male transmission (mutation is only on the X chromosome). Son of heterozygous mothers have a 1/2 chance of being affected.
27
Complete Dominance Inheritance
A relationship in which one allele is completely dominant over another
28
Co-Dominant Inheritance
Inheritance pattern where different alleles are equally expressed (one does not mask the other). 'A' and 'B' alleles
29
Partial / Incomplete Dominance Inheritance
Combination of a dominant and recessive allele produces an intermediate phenotype (sickle cell anemia, hypercholesterolemia)
30
STR
Short Tandem Repeats Specific sequences of DNA fragments that are repeated at a particular site on a chromosome
31
Explain HOW you can differentiate between the coding and the template strand
The coding strand goes from 5' to 3' starting with the TATAA box
32
The sequence below is a piece of template DNA from the middle of a gene. What does the coding strand look like? 5' AGCTACGGGGTGATCCT 3'
3' TCGATGCCCCACTAGGA 5'
33
Where is the promoter sequence located?
Upstream of the transcription start site (on the template strand towards the 5')
34
Promoter (Elements of a Gene)
An upstream regulatory region of a gene to which RNA polymerase binds prior to initiation of transcription
35
5' UTR (Elements of a Gene)
5' untranslated region; region just upstream of the protein-coding region in an RNA molecule that is not translated
36
Exons (Elements of a Gene)
Expressed sequence of DNA; codes for a protein
37
Introns (Elements of a Gene)
Noncoding segments of nucleic acid that lie between coding sequences.
38
3' cleavage and addition of poly(A) tail (Elements of a Gene)
Increase stability of mRNA, facilitates binding of ribosome to mRNA
39
Types of Regulation
Transcriptional, post-transcriptional, post-translational
40
Transcriptional Regulation
The mechanisms that collectively regulate whether or not transcription occurs.
41
Post-Transcriptional Regulation
The control of gene expression at the RNA level, therefore between the transcription and the translation of the gene.
42
Post-Translational Regulation
Modification of amino acids in a protein resulting in structural changes or attachment of other biochemical functional groups
43
Variable Expressivity
Individuals with the same genotype have related phenotypes that vary in intensity
44
Incomplete Penetrance
Not all individuals with a mutant genotype show the mutant phenotype
45
True Breeding
Term used to describe organisms that produce offspring identical to themselves if allowed to self-pollinate
46
Non-true breeding
Parents with certain phenotype produce offspring with multiple phenotypes
47
Product Rule
The probability that two or more independent events will occur is equal to the product of their individual probabilities
48
Recombinant DNA
DNA that has been formed artificially by combining constituents from different organisms.
49
Non-recombinant DNA
When there is no foreign DNA insertion into the original genome.
50
Recombination Frequency
With respect to two given genes, the number of recombinant progeny from a mating divided by the total number of progeny with maximum frequency at 50% of recombinant progeny/total # of progeny Recombinant progeny carry combinations of alleles different from those in either of the parents as a result of independent assortment of chromosomes or crossing over.
51
How do you read a gel?
From bottom to top
52
Contig
Set of overlapping DNA fragments that have been assembled in the correct order to form a continuous stretch of DNA sequence
53
Methylation
A chemical modification of DNA that does not affect the nucleotide sequence of a gene but makes that gene less likely to be expressed.
54
Proto-oncogenes
the corresponding normal cellular genes that are responsible for normal cell growth and division
55
Oncogenes
genes that cause cancer by blocking the normal controls on cell reproduction
56
Tumor Suppressor
A gene that codes for a protein product that inhibits cell proliferation; inactive in cancer cells.
57
Epigenetics
The idea that an organ or an organism arise through the sequential and development of new structures.
58
Heterogenous Trait
A trait that can arise from a mutation in any number of different genes. (many genes interact)
59
Complementation Tests
Determine if mutations that cause the same phenotype are in the same or different genes.
60
Epistasis
When the expression of one gene masks or modifies the expression of a gene or a gene pair. -One gene can mask the phenotypic effects of another gene (eg. Baldness is epistatic to blondness)
61
Complementation
Mutations are in two different genes. - Two parents with "mutant" produce normal progeny. - Happens because parents have defects in two DIFFERENT genes.
62
No Complementation
Mutations in the same gene.
63
Recessive Epistasis
Two or more genes can both be involved in producing a particular phenotype.
64
Imprinting
Inactivation of certain genes in mail or female germline (by methylation of the promoter), generally genes have something to do with growth
65
Single Gene Trait
One gene with two alleles results in two distinct phenotypes.
66
Quantitative Trait
Multiple genes (polygenic usually) and environment yield a continuous distribution of phenotype.
67
Polygenic Traits
Traits determined by two or more genes
68
Formula for how many genes are involved
``` n= # of genes 2n+1= # of phenotypes ```
69
Additive Allele Model
Formula: 1/4^n= ratio of F2 individuals @ extreme, where n = # genes controlling trait
70
Heritability
The proportion of the total phenotypic variance in a population due to genetic differences among individuals. heritability = VG(genotype)/(VG+ VE(environment))
71
Variation
V = (standard deviation from the mean)^2 | -If your sample is genetically identical, then any variance you see is due to environment.
72
Concordance
Percentage of twin pairs that both have a trait.
73
Hardy-Weinburg
Allele frequency: -If you know one frequency you know the other (p+q=1) Genotype frequency: -If the homozygous recessive phenotype is obvious, you can count those individuals, assume their genotype is aa, set aa equal to q2, and solve for q (p^2+2pq+q^2=1)
74
Genetic Drift
Change in the gene pool due to sudden population shrinkage.
75
Natural Selection: Stabilizing Selection
Favors intermediate phenotypes over extreme phenotypes Reduces variation and maintains current average.
76
Natural Selection: Directional Selection
Favors one extreme | Common during environmental change or migration.
77
Natural Selection: Dispersive Selection
Favors both extremes over intermediate phenotypes | Occurs when environment favors extreme phenotype
78
Founder Effect
A few individuals start a new population with different allele frequency than origin.

MCDB 2150 Final (1 decks)

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