molbio Flashcards

(24 cards)

1
Q

What is the total number of nucleotide base pairs in human DNA?

A

2.9 billion nucleotide base pairs of DNAs organized in 23 chromosomes

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2
Q

How many chromosomes do diploid organisms have?

A

46 chromosomes

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3
Q

What is the structure of each chromosome?

A

Each chromosome is a double helix of DNA

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4
Q

Which chromosome is the largest in humans?

A

Chromosome 1

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5
Q

Which chromosome is the smallest in humans?

A

Chromosome 21

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6
Q

Define POLYMORPHISM in genetics.

A

A difference in DNA sequence found in 1%-2% or more of a given population

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7
Q

What are examples of polymorphisms?

A
  • Blood types in humans
  • Color of hair & eyes
  • Separation of higher organisms into male & female sexes
  • Polymorphisms used for human ID & paternity testing
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8
Q

Define MUTATION in genetics.

A

A change in the order/sequence of nucleotide in DNA found in <1%-2% of a given population

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9
Q

What can cause mutations?

A
  • Errors in DNA replication
  • Exposure to mutagens
  • Other factors
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10
Q

What is BALANCED POLYMORPHISM?

A

Maintained in a population through a balance of positive & negative phenotype

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11
Q

How does SICKLE CELL ANEMIA provide an example of balanced polymorphism?

A

Abnormal RBCs resulting in resistance to infection by Plasmodium species (malaria)

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12
Q

Define BENIGN POLYMORPHISM.

A

Does not have any detectable negative effects on an organism’s health/fitness

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13
Q

What are characteristics of benign polymorphisms?

A
  • Typically common in populations
  • Do not lead to disease/other adverse phenotypic outcomes
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14
Q

Give examples of benign polymorphisms.

A
  • Blood type (ABO blood group)
  • Eye color
  • Facial features
  • Skin pigmentation
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15
Q

What are the classifications of mutations?

A
  • Gene mutations
  • Chromosome mutations
  • Genome mutations
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16
Q

What do gene mutations affect?

A

Affect single genes & are often, but not always, small changes in the DNA sequence

17
Q

What do chromosome mutations affect?

A

Affect the structures of entire chromosomes

18
Q

What are genome mutations?

A

Changes in the number of chromosomes (aneuploidy)

19
Q

Define CHROMOSOMAL COMPACTION.

A

Process by which the long, linear DNA molecules of eukaryotic chromosomes are organized & packaged into highly condensed structures

20
Q

What affects chromosome behavior?

A

Chromosome structure & DNA sequences (position effect)

21
Q

How does chromosome topology affect gene activity?

A

Highly compacted DNA = less available for RNA transcription

22
Q

Why are DNA strands condensed into compact chromosomes?

A

To fit in the cell’s nucleus