Genetics (exam 1) Flashcards

1
Q

What sugar makes up DNA?

A

Deoxyribose

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2
Q

What are the codons in DNA and how do they pair?

A

A-T

G-C

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3
Q

What are the codons in RNA and how do they pair?

A

A-U

G-C

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4
Q

Transcription

A

DNA to mRNA

In nucleus

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5
Q

Translation

A

mRNA to protein

In ribosome

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6
Q

Gene splicing

A

Introns spliced out

Exons kept

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7
Q

Polymorphisms

A

Mutation
Changing of genes
Normal changes in alleles
Least pathologic

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8
Q

Point Mutation

A

Change 1 base

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9
Q

Base Pair Substitution

A

Type of point mutation

1 pair replaces another

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10
Q

Frameshift Mutation

A

Insertion or Deletion

Most pathologic

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11
Q

Insertion

A

Insert 1 or more pairs
Not in group of 3
Change reading frame

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12
Q

Deletion

A

Delete 1 or more pairs
Not in group of 3
Change reading frame

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13
Q

Inversion

A

Section of DNA is reversed

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14
Q

How many chromosomes are there?

A

46 total

23 pairs

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15
Q

How many autosomes are there?

A

22 pairs

44 total

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16
Q

Mutagens

A

Agents that increase the frequency of mutations

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17
Q

Euploid Cells

A

Correct number of chromosomes

18
Q

Polyploidy

A

More than normal copies
Ex: Triploidy (3 copies, 69 chromosomes)
Ex: Tertraploidy (2 copies, 92 chromosomes)

19
Q

Euploidy

A

Correct # of chromosome

2 pairs, 46 chromosomes

20
Q

Aneuploidy

A

Wrong # of chromosomes
Does not contain 23 chromosomes
Not a set of chromosomes wrong

21
Q

Trisomic/ Trisomy

A

3 copies of one chromosome

22
Q

Monosomy

A

Presence of only one copy of a chromosome

LETHAL of any chromosome, unless a male sex chromosome

23
Q

Nondisjunction

A

An error where homologous chromosomes fail to separate during meiosis

24
Q

Partial Trisomy

A

An extra portion of a chromosome is present in each cell

25
Q

Chromosomal Mosaics

A

Body has 2 or more different cell lines

26
Q

Trisomy 13

A

Patau Syndrome

Most pathologic

27
Q

Trisomy 18

A
Edwards Syndrome
Pretty Pathologic (50% die w/ in 1st week, rest w/ in 1st year)
28
Q

Trisomy 21

A

Down syndrome
Risk increases with mothers age
Most common
Least pathologic

29
Q

Trisomy X

A

XXX
Most common aneuplodies
47 chromosomes

30
Q

Monosomy X

A

XO

45 chromosomes

31
Q

Klinefelter Syndrome

A

XXY

47 chromosomes

32
Q

Mode of Inheritance

A

Pattern in which a genetic disease is inherited through generations

33
Q

Autosomal Recessive

A

Occur on the 22 pairs of autosomes

Need 2 recessive copies

34
Q

Autosomal Dominant

A

Occur on the 22 pairs of autosomes

Need 1 dominant

35
Q

X-Linked Recessive

A

Occur on X
Male expresses it if it is present
Female needs 2 copies of it to present

36
Q

X-Linked Dominant

A

Occur on X

Need 1 to present

37
Q

Genotype

A

Set of genes an individual has in its genome

38
Q

Phenotype

A

Physical or attributes coded by genes and environmental factors

39
Q

Polygenic Traits

A

Several genes acting together for trait

40
Q

Multifactorial Inheritance

A

Environmental factors influence expression of trait