The Heritability of Mutations in Sex Cells Flashcards

(50 cards)

1
Q

changes in DNA sequence that can affect genetic traits
can occur in any cell, but only those in sex cells can be passed to offspring

A

Genetic Mutations

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2
Q

types of mutation (3)

A

point
insertion
deletion

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3
Q

single nucleotide change

A

point

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4
Q

Addition of 1+ nucleotides

A

insertion

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5
Q

Loss of 1+ nucleotides

A

deletion

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6
Q

leads to frameshift mutation is more damaging
causes changes in the subsequent amino acid sequences in a polypeptide chain

A

insertion / deletion of sequence of nucleotides

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7
Q

alter reading frame of the genetic code, have a significant effect on the gene product.

A

frameshift mutation

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8
Q

include sperm & eggs.

A

sex cells

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9
Q

other term for sex cells

A

gametes

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10
Q

Each carries half the genetic information of an organism.
Mutations in these cells can be passed to the next generation.

A

sex cells

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11
Q

changes to your DNA that you inherit from egg & sperm cells during conception

A

germline mutation

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12
Q

changes to your DNA that happen after conception to cells other than the egg and sperm
passed to daughter cells during mitosis but not to offspring during sexual reproduction.

A

somatic mutation

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13
Q

occur in sex cells
heritable

A

germline mutations

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14
Q

occur in body cells
NOT passed to offspring

A

somatic mutations

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15
Q

less significant than germ mutations

A

somatic mutation

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16
Q

cell division process that creates sex cells

A

meiosis

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17
Q

involves 2 rounds of division 🟰in 4 unique cells.

A

meiosis

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18
Q

most important cells in the body for generation of an organism as they transmit necessary genetic information to form a new human being.

A

germ cells

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19
Q

only have one half of the total amount of human genetic information.

A

germ cells

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20
Q

passed from parent ▶️ offspring
these must occur in sex cells BEFORE fertilization

A

heritable mutation

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21
Q

Not all mutations are harmful; some can be (1) ____ or (2) ______.

A

1 beneficial
2 neutral

22
Q

Carriers of genetic information in form of DNA.

23
Q

humans cells have: ___ chromosomes and __ pairs?

24
Q

centromere of each chromosome

A

short (p) arm
long (q) arm

25
MOST COMMON TYPE of chromosomal abnormality
aneuploidy
26
caused by an extra or missing chromosome
aneuploidy
27
Changes in chromosome number, such as trisomy or monosomy.
numerical aberration
28
Changes in chromosome structure
structural aberration
29
types of chromosomal aberrations
numerical structural
30
types of structural aberrations
translocation inversion duplication ring chromosomes
31
Segments of chromosomes break off and attach to different chromosomes.
translocation
32
Segments of a chromosome are reversed end to end
inversions
33
Segments of a chromosome are copied, repeated.
duplications
34
Ends of a chromosome join to form a ring
ring chromosomes
35
Visualizing chromosomes under a microscope to identify structural and numerical changes
karyotyping
36
Using fluorescent probes to detect specific chromosome abnormalities
Fluorescence in situ hybridization (FISH)
37
Comparing patient DNA with reference DNA to find variations
Comparative Genomic Hybridization (CGH)
38
Causes of Mutations in Sex Cells
Environmental factors: Radiation, chemicals, viruses Errors during DNA replication Random chance during cell division
39
environmental factors that might increase mutation rates
tobacco smoke UV light aristolochic acid
40
Some heritable mutations can lead to: ___ ?
genetic disorders
41
often caused by specific mutations in sex cells
Cystic fibrosis, sickle cell anemia, hemophilia
42
show effects even if only one copy is present.
dominant mutation
43
require two copies to show effects.
recessive mutation
44
can identify mutations in sex cells can inform individuals about potential risks for children can also guide family planning decisions
genetic testing
45
Changes in structure/number of chromosomes
Chromosomal Mutations in Sex Cells
46
lead to rapid evolution but also 🔼 genetic disorders
high mutation rates
47
lead to stagnation, reduced adaptability
low mutation rates
48
risks of high mutation rates in a population
genetic disorders, reduced fitness & survival chances, evolutionary instability
49
benefits of high mutation rate in a population
genetic diversity, evolutionary innovation, adaptive evolution
50
Chromosomal Mutations in Sex Cells examples
Down syndrome, Klinefelter syndrome, Turner syndrome