Genetics Exam 1 Flashcards

(45 cards)

0
Q

Mendel’s first law/Law of segregation

A

Identifies segregation of alleles during gamete formation and proposes the random union of gametes to produce progeny in predictable proportions determined by chance. 2 alleles for each trait will separate.

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1
Q

Mendel’s second law/ Law of Independent Assortment

A

During gamete formation, the segregation of alleles at one locus is independent of segregation of alleles at another locus

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2
Q

Chromosome theory of heredity

A

Chromosomes are the cell structures that carry genes

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3
Q

Reciprocal cross

A

Where same genotypes are crossed but sexes of donating parents are switched

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4
Q

Test cross

A

Cross between F1 heterozygous and a pure breeding recessive phenotype

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5
Q

Haplosufficient

A

One copy is sufficient to produce wild type phenotype

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6
Q

Haploinsufficient

A

A single copy is not sufficient to produce wild type phenotype

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7
Q

Loss of function mutation

A

Results in a significant decrease or complete loss of functional activity of a gene product

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8
Q

Gain of function mutation

A

Identify alleles that have acquired a new function or express substantially more activity than the wild type allele

  • almost always dominant
  • some are lethal in a homozygous state
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9
Q

Incomplete dominance

A

Dominance of one allele over another is not complete. Phenotype of heterozygous is distinctive and is typically more similar to one homozygous phenotype than the other.

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11
Q

Codominance

A

Leads to a heterozygous phenotype different from the phenotype of either homozygous parent. Is characterized by the detectable expression of both alleles in heterozygotes.

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12
Q

sex-influenced traits

A

the phenotype corresponding to a particular genotype differs depending on sex of organism

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13
Q

nonpenetrant

A

when a particular genotype fails to produce corresponding phenotype

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14
Q

incomplete penetrance

A

when traits for which nonpenetrant individuals occasionally/routinely occur

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15
Q

variable expressivity

A

the same genotype produces phenotypes that vary in the degree/magnitude of expression of allele

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16
Q

pleiotropy

A

the alteration of multiple, distinct traits of an organism by a mutation in a single gene

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17
Q

epistasis

A
  • causes altered ratios of wild type and mutant phenotypes
  • minimum of 2 genes required
  • results from mutation in pathways that require a specific activity from every gene in the pathway for wild type phenotype to be produced
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18
Q

duplicative recessive epistasis/9:7

A

results from complementary gene interaction that requires genes to work in tandem to produce a single product

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19
Q

genetic complementation

A

ability of 2 mutants with same mutant phenotype to produce progeny with wild type phenotype
-shows more than 1 gene is involved in determining the phenotype

20
Q

duplicate dominant epistasis/15:1

A

a redudant genetic system in which any genotype possessing at least one copy of a dominant allele at either locus will produce dominant phenotype

21
Q

dominant gene interaction/9:6:1

A

recessive at either gene causes same phenotype but recessive for both gene causes 1/16 different phenotype

22
Q

recessive epistasis/9:3:4

A

homozygosity for a recessive allele at one locus can mask the phenotypic expression of a 2nd gene

23
Q

dominant epistasis/12:3:1

A

a dominant allele at 1 locus masks the expression of alleles at a 2nd locus

24
Q

non genetic complementation

A

offspring of a cross between 2 mutants will have a mutant phenotype and mutations are on the SAME gene

25
gene
fundamental unit of heredity - controls some aspect of an organism's form, function, or behavior (phenotype) - a segment of DNA that contains the genetic information to express a (usually) protein
26
central dogma
DNA -> RNA -> Protein
27
Mitosis
ensures that all somatic cells of the body have the same set of chromosomes and 2 copies of each
28
Sister chromatids are the same, True or False?
True
29
Homologous chromosomes are the same, True or False?
False
30
Meiosis
specialized cell division that produces haploid gametes
31
5 important things about Mendel's methods
1. only used discontinuous traits 2. counted everything and used real numbers 3. did reciprocal crosses 4. studied only monogenic traits 5. studied traits without genetic linkage in crosses
32
When does crossing over occur?
Meiosis I during late prophase I
33
G1 phase
active gene expression and cell activity: preparation for DNA synthesis
34
S phase
DNA replication and chromosome duplication
35
G2 phase
preparation for cell division
36
M phase
Mitosis for somatic cells and Meiosis for germ-line cells
37
Interphase
Chromosomes are not visible but are duplicated
38
Prophase
Chromosomes condense and become visible as a pair of sister chromatids joined at centromere
39
Telomere
Stable ends of chromosome
40
Centromere
a constricted region of the chromosome where the kinetechores form and spindle microtubules attach
41
Chromosome
2 sister chromatids attached at centromere
42
Prometaphase
-nuclear envelope breaks down and mitotic spindleforms -microtubules connect to sister chromatids at centromere
43
Metaphase
chromosome pairs line up along metaphase plate
44
Anaphase
Centromeres divide and the sister chromatids move to opposite poles of the cell
45
Telophase
- nuclear envelope forms around chromosomes - cell divides into two -cytokinesis - chromosomes return to interphase state