Genetics Exam 1 Flashcards

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
Q

gene

A

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
Q

central dogma

A

DNA -> RNA -> Protein

27
Q

Mitosis

A

ensures that all somatic cells of the body have the same set of chromosomes and 2 copies of each

28
Q

Sister chromatids are the same, True or False?

A

True

29
Q

Homologous chromosomes are the same, True or False?

A

False

30
Q

Meiosis

A

specialized cell division that produces haploid gametes

31
Q

5 important things about Mendel’s methods

A
  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
Q

When does crossing over occur?

A

Meiosis I during late prophase I

33
Q

G1 phase

A

active gene expression and cell activity: preparation for DNA synthesis

34
Q

S phase

A

DNA replication and chromosome duplication

35
Q

G2 phase

A

preparation for cell division

36
Q

M phase

A

Mitosis for somatic cells and Meiosis for germ-line cells

37
Q

Interphase

A

Chromosomes are not visible but are duplicated

38
Q

Prophase

A

Chromosomes condense and become visible as a pair of sister chromatids joined at centromere

39
Q

Telomere

A

Stable ends of chromosome

40
Q

Centromere

A

a constricted region of the chromosome where the kinetechores form and spindle microtubules attach

41
Q

Chromosome

A

2 sister chromatids attached at centromere

42
Q

Prometaphase

A

-nuclear envelope breaks down and
mitotic spindleforms
-microtubules connect to sister chromatids at
centromere

43
Q

Metaphase

A

chromosome pairs line up along metaphase plate

44
Q

Anaphase

A

Centromeres divide and the sister chromatids move to opposite poles of the cell

45
Q

Telophase

A
  • nuclear envelope forms around chromosomes
  • cell divides into two -cytokinesis
  • chromosomes return to interphase state