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
Chromosomal Mosaics
Body has 2 or more different cell lines
26
Trisomy 13
Patau Syndrome | Most pathologic
27
Trisomy 18
``` Edwards Syndrome Pretty Pathologic (50% die w/ in 1st week, rest w/ in 1st year) ```
28
Trisomy 21
Down syndrome Risk increases with mothers age Most common Least pathologic
29
Trisomy X
XXX Most common aneuplodies 47 chromosomes
30
Monosomy X
XO | 45 chromosomes
31
Klinefelter Syndrome
XXY | 47 chromosomes
32
Mode of Inheritance
Pattern in which a genetic disease is inherited through generations
33
Autosomal Recessive
Occur on the 22 pairs of autosomes | Need 2 recessive copies
34
Autosomal Dominant
Occur on the 22 pairs of autosomes | Need 1 dominant
35
X-Linked Recessive
Occur on X Male expresses it if it is present Female needs 2 copies of it to present
36
X-Linked Dominant
Occur on X | Need 1 to present
37
Genotype
Set of genes an individual has in its genome
38
Phenotype
Physical or attributes coded by genes and environmental factors
39
Polygenic Traits
Several genes acting together for trait
40
Multifactorial Inheritance
Environmental factors influence expression of trait