Mutations and Human Genetics Flashcards

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1
Q

Homologous pair has three members

A

Trisomy

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2
Q

Tumor that does not spread to other tissues

A

Benign

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3
Q

Individuals not expressing a genetic trait, but can pass it on to next generation.

A

Carrier

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4
Q

Tumor that can invade other tissue

A

Malignant

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5
Q

Inheritance pattern that is expressed in degrees of variation

A

Polygenic

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6
Q

Mutation affecting a single nucleotide

A

Point

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7
Q

Cancer-causing agent

A

Carcingeon

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8
Q

Single nucleotide is replaced by another

A

Substitution

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9
Q

Gene that can cause cancer

A

Oncogene

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10
Q

mutation affecting body cells

A

Somatic Cell mutation

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11
Q

Mutation affecting gametes

A

Germ Cell Mutation

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12
Q

The presumed source of evolutionary change

A

Mutations

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13
Q

Spreading of cancer beyond the original point

A

Metastasis

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14
Q

Homologous pair of chromosomes fail to divide

A

Nondisjunction

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15
Q

Abnormal growth of cells

A

Tumor

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16
Q

Inheritance pattern for blood types

A

Multiple Alleles

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17
Q

Single nucleotide is added

A

Insertion

18
Q

Record showing patterns of inheritance through generations

A

Pedigre

19
Q

Changes in the genetic code occurring during replication

A

Mutations

20
Q

Germ-Cell Mutation

  • 2.
A

Germ-Cell Mutation: affects the gamets and occurs during meiosis.

  • May be passed on to Offspring
  • Does not affect the parent individual in which it occurs
21
Q

Somatic-Cell mutation

  • 1.
  • 2.
A

Somatic Cell-Mutation: occurs in body cells during meitosis

  • Not passed on to offspring but the individual may pass on genetic susceptibility
  • Affects the individual in which the mutation occurs.
22
Q

-

A

Gene Mutations: Change in gene or a series of related genes

  • Point Mutations
  • Chromosome Mutations
23
Q

Point Mutations

includes ____

A

Point Mutations: Change in a single nucleotide

includes substitution

24
Q

-

A

Substitution: one nucleotide in a codon is replaced by a different nucleotide.

  • May still code for the same amino acid
  • May also code for a different amino acid which can change the shape and function of the protein.
25
Q

Example of Substitution

A

Sickle Cell Disease

26
Q

Nucleotide Insertion

Nucleotide Deletion

A

Nucleotide Insertion: a single nucleotide is added to the sequence.
Nucleotide Deletion: a single nucleotide is lost.

27
Q

Insertion and Deletion lead to

A

Frame Shift Mutation: the arrangement of nucleotide sequence into codons is rearranged or nucleotide sequence is regrouped.

28
Q

Chromosome Mutations

A

Chromosome Mutations: change in the structure of a chromosome involving many genes.

29
Q

EX:

A

Nondisjunction: failure of homologous pairs to separate
- Results in one gamete receiving an extra chromosome while the other gamete is missing a chromosome.
EX: downsyndrome; trisomy 21

30
Q
  • Most mutations are _____ and the______
  • Harmful Mutations
  • Mutations are the source of
A
  • Most mutations are neutral and the change in the genetic code does not lead to a significant change in protein.
  • Harmful Mutations are mutations that cause dramatic changes in protein structure.
  • Mutations are the source of evolutionary change.
31
Q
  • Irreducible Complexity
  • Many mutations occur because
  • Most mutations that have significant altering effects are_
  • Beneficial mutations are_
A
  • Irreducible Complexity: all parts to a biochemical process must be present and functioning at all times
  • Many mutations occur because the genetic design do not cause severe altercations
  • Most mutations that have significant altering effects are _HARMFUL
  • Beneficial mutations are_ information reducing not information forming.
32
Q

-

A

Tumor: an abnormal proliferation of cells resulting from uncontrolled + abnormal cell division

  - Benign: mass of abnormal cells that do not spread; not directly life threatening.
  - Malignant: uncontrolled dividing cells that invade and destroy healthy tissue
33
Q

Mutations may occur in genes that produce

A

regulatory proteins that control the events at the cell cycle

34
Q

Oncogenes may be

A

inherited and could be turned on.

35
Q

Factors than can be Carcingenic

  • Chemicals:
  • Radiation:
A

Chemicals: tobacco products; asbestos; red dye
Radiation: x-rays; UV-sun

36
Q
The Influential factors for developing cancer
-Genetic\_\_\_\_\_\_\_\_\_\_\_\_
-
-
-
A
  • Genetic Predisposition
  • Frequency and intensity of carcinogen
  • Type of cell affected
  • Presence of multiple mutations
37
Q

Pedigree Analysis Chart

  • 1.
  • 2.
  • Carrier:_____
A

Pedigree Analysis/Chart: illustration that shows the relationships between family members in multiple generations

  1. Generally follows recessive traits
  2. Depicts patterns of inheritance which demonstrates predictability.
    - Carrier: individual having a single copy of a recessive allele therefore does not express but can pass it on.
38
Q

Human traits are difficult to follow and understand their inheritance
1.
2.

A

Human traits are difficult to follow and understand their inheritance

  1. Many traits are determined by multiple genes.
  2. The expression of traits are influenced by environmental factors.
39
Q

Single Gene may have______ and may ________

-EX:

A

Single gene may have Multiple Alleles: more than two forms of expression are possible

  • May express co dominance
  • EX: Blood types
40
Q

Controlled by more than one gene

  • 1.Most Human characteristics
  • 2.Trait is expressed in
  • 3.Often influenced by
  • 4.
A

Controlled by more than one gene: Polygenic traits
-1. Most Human characteristics are controlled by more than one gene
2. Trait is expressed in degrees of variation
3. Often influenced by environmental conditions
4.

41
Q
Example Polygenic traits
-
-
-
-
A
  • Hair Color
  • Eye Color
  • Skin Color
  • Height
42
Q

Sex-Linked Traits

  • Most commonly carried
  • Most commonly passed on
A

Sex-Linked Traits: traits carried on the sex chromosomes

  • Most commonly carried on the X chromosome
  • Most commonly passed on from mother to son