Review Flashcards

1
Q

Why study genetics?

A

Critical role in understanding disease, improving agricultural practices, and biotechnology industry.

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2
Q

What is a gene?

A

Fundamental unit of heredity

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3
Q

What is an allele?

A

Multiple forms of genes

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4
Q

Where is genetic information carried?

A

DNA

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5
Q

Where are genes located?

A

On chromosomes

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6
Q

How is genetic information transferred?

A

From DNA to RNA to protein

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7
Q

What is a locus?

A

A specific place on a chromosome occupied by an allele

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8
Q

What is a genotype?

A

Set of alleles possessed by an individual organism

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9
Q

What is a heterozygote?

A

An individual organism possessing two different alleles at a locus

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10
Q

What is a homozygote?

A

An individual organism possessing two of the same alleles at a locus

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11
Q

What is a phenotype or trait?

A

The appearance or manifestation of a character

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12
Q

Who discovered the basic principles of heredity?

A

Gregor Johann Mendel

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13
Q

What is a monohybrid cross?

A

Cross of a single gene (ex. round x wrinkled)

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14
Q

What is Mendel’s law of segregation?

A

3:1 ratio of dominant:recessive

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15
Q

If an F1 plant (heterozygous) is backcrossed to the parent with round (dominant) seeds, what proportion of the progeny will have wrinkled seeds?

A

0

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16
Q

What are dihybrid crosses? What is the approximate ratio of phenotypes?

A

Cross of 2 genes. Approximately 9:3:3:1 (DD:Dr:rD:rr)

17
Q

How is an affected person represented in a pedigree?

A

Shaded

18
Q

How is a male represented in a pedigree?

A

Square

19
Q

How is a female represented in a pedigree?

A

Circle

20
Q

What is the shape on a pedigree when the gender is unknown?

A

Diamond

21
Q

What is a generation line on a pedigree?

A

A vertical line = offspring.

22
Q

What is a sibship line on a pedigree?

A

Horizontal line (above) = siblings

23
Q

What do we assume for a pedigree?

A

If the trait is rare and autosomal recessive, then individuals who marry/mate into the pedigree are not carriers, but are homozygous for the normal allele unless there is evidence to the contrary.

24
Q

What are null/amorphic alleles?

A
  • A nonfunctional protein is produced
    OR
  • No protein is produced
25
Q

What are hypomorphic alleles?

A
  • A poorly functioning protein is produced
    OR
  • Reduced amounts of a normally functioning protein is produced
26
Q

If the probability of being blood-type A is 1/8 and the probability of blood-type O is 1/2, what is the probability of being either blood-type A or O?

A

5/8

27
Q

What type of alleles usually result in loss of function?

A

Recessive

28
Q

What type of allele often involve gain/change of gene function?

A

Dominant

29
Q

What are dominant hypermorphic alleles?

A
  • Negative phenotypic consequences due to the overproduction of a normal protein
    OR
  • Negative phenotypic consequences due to the production of a protein with increased activity levels
30
Q

What are neomorphic alleles?

A
  • Negative phenotypic consequences due to the presence of an altered protein that has a new function
    OR
  • Negative phenotypic consequences when the altered protein interferes with the wildtype protein
    (Dominant-negative allele)
31
Q

For traits that are rare and dominant, affected individuals are most likely to be ____________. Why?

A
  • Heterozygous
  • If the trait is rare, then matings between heterozygous individuals would be infrequent
    (you will see Bb x bb)
32
Q

Albinism is a recessive condition. A couple with normal skin want to have 2 children. The man has one albino parent; the woman has parents with normal skin, but an albino brother.
What is the probability that their first child will be albino?

A

2/3 x 1 x 1/4 = 2/12 = 1/6