Chapter 15 Flashcards

0
Q

Polymorphism

A

Any genetics difference among individuals that is sufficiently common

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1
Q

Genotype

A

Genetic makeup of a cell or organism

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2
Q

Phenotype (3)

A
  • An individual’s observable characteristics or traits
  • seen either physically or in development, physiology, or behavior
  • results from interaction b/w genotype and environment
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3
Q

Alleles

A

Different forms of any gene

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4
Q

Subunit of hemoglobin with A, S, and C allele

A
  • A most common
  • S associated with sickle cell anemia
  • C glutamic acid replaces with lysine
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5
Q

Homozygous

A

An individual w/ an allele of the same type from each parent

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6
Q

Heterozygous

A

An individual w/ different types of alleles from their parents

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7
Q

2 important principles about the connection b/w genotype and phenotype

A
  1. Depends on whether mutation is homozygous or heterozygous
  2. Effect of a particular genotype may depend on environment
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8
Q

Harmful mutations (2)

A
  • often eliminated through generations

- ex. Emphysema

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9
Q

Genotype-by-environment interaction

A

Phenotype is the result of an interplay b/w genes and the environment

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10
Q

Neutral mutations (3)

A
  • Have no effect on the organism
  • Often found in noncoding DNA
  • occur especially in organisms w/ large genomes
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11
Q

PTC (3)

A
  • chemical some can taste and some can’t
  • example of taster polymorphism
  • neutral mutation
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12
Q

Beneficial Mutations

A
  • Protecting against infectious disease

- in rare cases permit organisms to become adapted to their environment

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13
Q

No disjunction

A
  • Failure for a pair of chromosomes to separate during anaphase of cell division
  • one cell receives extra copy of chromosome, one has no copy of that chromosome
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14
Q

1st division non-disjunction

A

Chromosomes not genetically identical

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15
Q

2nd division non-disjunction

A

Genetically identical chromosomes

16
Q

Down syndrome

A
  • Presence if an extra chromosome 21
  • AKA trisomy 21
  • short b/c of delayed maturation
  • muscle tone low
  • characteristic facial appearance
17
Q

Extra/Missing chromosomes

A
  • common
  • usually remain undiscovered
  • males and females remain healthy
18
Q

XXY (7)

A
  • very small testes but normal penis and scrotum
  • some degree of mental impairment
  • testes fail to enlarge
  • voice remains high pitched
  • pubic and facial hair sparse
  • some enlargement of breasts
  • sterile
19
Q

Turner syndrome (7)

A
  • only one X chromosome
  • short
  • webbing of the skin
  • no sexual maturation
  • external sex organs remain immature
  • breasts fail to develop
  • pubic hair fails to grow
20
Q

Spontaneous Abortion

A
  • Most fertilized eggs with abnormalities fail to complete embryonic development
  • often triploid or tetraploid