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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
Q

X-linked Dominant Inheritance

A

All females of the affected father are diseased.

Affected mother can pass on the disease to both male and female offspring.

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26
Q

X-linked Recessive Inheritance

A

No male to male transmission (mutation is only on the X chromosome).
Son of heterozygous mothers have a 1/2 chance of being affected.

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27
Q

Complete Dominance Inheritance

A

A relationship in which one allele is completely dominant over another

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28
Q

Co-Dominant Inheritance

A

Inheritance pattern where different alleles are equally expressed (one does not mask the other). ‘A’ and ‘B’ alleles

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29
Q

Partial / Incomplete Dominance Inheritance

A

Combination of a dominant and recessive allele produces an intermediate phenotype (sickle cell anemia, hypercholesterolemia)

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30
Q

STR

A

Short Tandem Repeats Specific sequences of DNA fragments that are repeated at a particular site on a chromosome

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31
Q

Explain HOW you can differentiate between the coding and the template strand

A

The coding strand goes from 5’ to 3’ starting with the TATAA box

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32
Q

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’

A

3’ TCGATGCCCCACTAGGA 5’

33
Q

Where is the promoter sequence located?

A

Upstream of the transcription start site (on the template strand towards the 5’)

34
Q

Promoter (Elements of a Gene)

A

An upstream regulatory region of a gene to which RNA polymerase binds prior to initiation of transcription

35
Q

5’ UTR (Elements of a Gene)

A

5’ untranslated region; region just upstream of the protein-coding region in an RNA molecule that is not translated

36
Q

Exons (Elements of a Gene)

A

Expressed sequence of DNA; codes for a protein

37
Q

Introns (Elements of a Gene)

A

Noncoding segments of nucleic acid that lie between coding sequences.

38
Q

3’ cleavage and addition of poly(A) tail (Elements of a Gene)

A

Increase stability of mRNA, facilitates binding of ribosome to mRNA

39
Q

Types of Regulation

A

Transcriptional, post-transcriptional, post-translational

40
Q

Transcriptional Regulation

A

The mechanisms that collectively regulate whether or not transcription occurs.

41
Q

Post-Transcriptional Regulation

A

The control of gene expression at the RNA level, therefore between the transcription and the translation of the gene.

42
Q

Post-Translational Regulation

A

Modification of amino acids in a protein resulting in structural changes or attachment of other biochemical functional groups

43
Q

Variable Expressivity

A

Individuals with the same genotype have related phenotypes that vary in intensity

44
Q

Incomplete Penetrance

A

Not all individuals with a mutant genotype show the mutant phenotype

45
Q

True Breeding

A

Term used to describe organisms that produce offspring identical to themselves if allowed to self-pollinate

46
Q

Non-true breeding

A

Parents with certain phenotype produce offspring with multiple phenotypes

47
Q

Product Rule

A

The probability that two or more independent events will occur is equal to the product of their individual probabilities

48
Q

Recombinant DNA

A

DNA that has been formed artificially by combining constituents from different organisms.

49
Q

Non-recombinant DNA

A

When there is no foreign DNA insertion into the original genome.

50
Q

Recombination Frequency

A

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
Q

How do you read a gel?

A

From bottom to top

52
Q

Contig

A

Set of overlapping DNA fragments that have been assembled in the correct order to form a continuous stretch of DNA sequence

53
Q

Methylation

A

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
Q

Proto-oncogenes

A

the corresponding normal cellular genes that are responsible for normal cell growth and division

55
Q

Oncogenes

A

genes that cause cancer by blocking the normal controls on cell reproduction

56
Q

Tumor Suppressor

A

A gene that codes for a protein product that inhibits cell proliferation; inactive in cancer cells.

57
Q

Epigenetics

A

The idea that an organ or an organism arise through the sequential and development of new structures.

58
Q

Heterogenous Trait

A

A trait that can arise from a mutation in any number of different genes. (many genes interact)

59
Q

Complementation Tests

A

Determine if mutations that cause the same phenotype are in the same or different genes.

60
Q

Epistasis

A

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
Q

Complementation

A

Mutations are in two different genes.

  • Two parents with “mutant” produce normal progeny.
  • Happens because parents have defects in two DIFFERENT genes.
62
Q

No Complementation

A

Mutations in the same gene.

63
Q

Recessive Epistasis

A

Two or more genes can both be involved in producing a particular phenotype.

64
Q

Imprinting

A

Inactivation of certain genes in mail or female germline (by methylation of the promoter), generally genes have something to do with growth

65
Q

Single Gene Trait

A

One gene with two alleles results in two distinct phenotypes.

66
Q

Quantitative Trait

A

Multiple genes (polygenic usually) and environment yield a continuous distribution of phenotype.

67
Q

Polygenic Traits

A

Traits determined by two or more genes

68
Q

Formula for how many genes are involved

A 
n= # of genes
2n+1= # of phenotypes
69
Q

Additive Allele Model

A

Formula: 1/4^n= ratio of F2 individuals @ extreme, where n = # genes controlling trait

70
Q

Heritability

A

The proportion of the total phenotypic variance in a population due to genetic differences among individuals.
heritability = VG(genotype)/(VG+ VE(environment))

71
Q

Variation

A

V = (standard deviation from the mean)^2

-If your sample is genetically identical, then any variance you see is due to environment.

72
Q

Concordance

A

Percentage of twin pairs that both have a trait.

73
Q

Hardy-Weinburg

A

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
Q

Genetic Drift

A

Change in the gene pool due to sudden population shrinkage.

75
Q

Natural Selection: Stabilizing Selection

A

Favors intermediate phenotypes over extreme phenotypes Reduces variation and maintains current average.

76
Q

Natural Selection: Directional Selection

A

Favors one extreme

Common during environmental change or migration.

77
Q

Natural Selection: Dispersive Selection

A

Favors both extremes over intermediate phenotypes

Occurs when environment favors extreme phenotype

78
Q

Founder Effect

A

A few individuals start a new population with different allele frequency than origin.

MCDB 2150 Final (1 decks)

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