Chapter 4: Flashcards

(40 cards)

1
Q

Two postulates that are the possible of gene transmission

A
  1. Genes are present on homologous chromosomes
  2. Chromosomes segregate and assort independently
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2
Q

Gene interaction

A

Single phenotype is affected by more than one set of genes

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3
Q

X-Linkage

A

genes that are present in the X chromosome

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4
Q

Alleles

A

alternative forms of a gene

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5
Q

Mutation

A

Ultimate source of alleles
Note: new phenotype result from changes in functional activity if gene product
-Elimination enzyme function
-Changing relative enzyme efficiency
-Changing overall enzyme function

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6
Q

Wild-type alleles

A

Occurs most frequently in nature and is usually (not always) dominant

Due to natural selection

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7
Q

Loss of function Mutations

A

-New phenotype results from change in activity
-Mutation causes loss of wild-type function

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8
Q

Gan-of function mutations

A

-Mutation enhances function of will type
-Quantity of gene product increases

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9
Q

Neutral mutations

A

-No change to the phenotype
-No change to the evolutionary fitness of the organism

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10
Q

DO MORE RESEARCH ON THIS: Adding or moving the amino acid is dangerous

A
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11
Q

Dominant alleles are indicated by

A

-an italoc uppercase letter of uppercase case

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12
Q

Recessive alleles are indicated by

A

an italic lowercase letter, or an italic letter or group of letters

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13
Q

Mutant alleles are indicated by

A

an italic letter

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14
Q

Wild type alleles are indicated by

A

italic letter plus superscript + (e^+)

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15
Q

Incomplete or partial dominance

A

Intermediate phenotype
Niether alle is dominant

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16
Q

Example of dominance in snapdragon

A

Red snapdragon is crossed with whote snapdragon

F1 offspring: pink flowers
F2 generation: 1/4 red, 1/2 pink, 1/4 white
-Phenotypic and genotypic ratios are the same
Each genotype has its own phenotype

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17
Q

Incomplete dominance in humans example

A

Tay-Sachs disease

18
Q

Threshold Effect

A

Normal phenotypic expression results
Certain level (usually 50% or less) of gene product is attained
In Tay-Sach’s disease, less than a 50 percent threshold

19
Q

Codominance

A

-No dominance or recessiveness
-No incomplete or blending
-Joint expression of both alleles in a heterozygote

20
Q

Multiple alleles

A

-Three or more alleles of the same gene
-resulting mode of inheritance unique
-Can only be studied in populations

21
Q

Example of Multiple alleles

A

Human ABO blood groups
-example of muliple alleles
-A and B antigens present on surface of red blood cells
-Three alleles of a single gene responsible for ABO phenotypes

22
Q

A and B antigens

A

CArbohydrate groups bound to lipid groups on red blood cells

23
Q

H substance

A

-One or two terminal sugars are added
-O blood types (ii) only have the H substance protruding from the red blood cells

24
Q

Essential genes

A

Absolutely required for survival
-Mustations can be tolerated if heterozygous

25
Why can mutations (if heterozygous) of essential genes be tolerated?
One type of allele is sufficient for survivial Homozygous recessive will not survive
26
Recessive lethal allele
Mutaion of essential genes behaves as a recessive lethal alleleq
27
Lethal Allele
Has the potential to cause death of organism -alleles are a result of mitations in essential genes -inherited in a recessive manner -
28
Dominant lethal allele + provide an example
-Presence of one copy of allele results in death Ex. Huntigton's disease
29
Huntigton's disease
Dominant autosomal allele H Onset of disease in heterozygous delayed until adulthood Characterized by progressive degeneration o f nervous system, dementia, and early death
30
Agouti gene in mice (coat color)
Agouti allele A Mutant yellow allele A^y
31
Mutant Allele (A^y)
Behvaes dominantly to normal allele to control coat color Behaves as homozygous recessive lethal allele
32
Pleiotropy
Expression of single gene has multiple phenotypic effects Example Marfan syndrome Porphyria Variegata
33
Sex-limited inheritance
Expression of specific phenotype is limited to one sex
34
Sex-influenced inheritance
Sex of individual influences expression of the phenotype Not limited to one sex or the other
35
Penetrance
Percentage of expression of the mutant genotype in a population
36
Expressivity
-Range of expression of mutant phenotype -REsult of genetic background differences or environmental effects
37
Genetic background: Position effect
-The physical location of gene influences expression -Translocation or inversion events modify the expression -Gene relocated to condensed or genetically inert chromosome (called heterochromatin)
38
Conditional Mutations
Ideal temperatures for animals Example: Darker fur on cooler areas of body (tail, feet, ears) enzymes loose catalytic function at higher temps
39
Nutritional mutations in genetics
prevent ssynthesis of nutrient molecules in microbes Phenotype may be expressed depending on diet Example Phenylketonuria: loss of an enzyme to metabolize amino acid called phenylalanine, severe issues unless low Phe diet
40