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science 🧬 > The Heritability of Mutations in Sex Cells > Flashcards

The Heritability of Mutations in Sex Cells Flashcards

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.

A

chromosomes

23
Q

humans cells have: ___ chromosomes and __ pairs?

A

46
23

24
Q

centromere of each chromosome

A

short (p) arm
long (q) arm

25
Q

MOST COMMON TYPE of chromosomal abnormality

A

aneuploidy

26
Q

caused by an extra or missing chromosome

A

aneuploidy

27
Q

Changes in chromosome number, such as trisomy or monosomy.

A

numerical aberration

28
Q

Changes in chromosome structure

A

structural aberration

29
Q

types of chromosomal aberrations

A

numerical
structural

30
Q

types of structural aberrations

A

translocation
inversion
duplication
ring chromosomes

31
Q

Segments of chromosomes break off and attach to different chromosomes.

A

translocation

32
Q

Segments of a chromosome are reversed end to end

A

inversions

33
Q

Segments of a chromosome are copied, repeated.

A

duplications

34
Q

Ends of a chromosome join to form a ring

A

ring chromosomes

35
Q

Visualizing chromosomes under a microscope to identify structural and numerical changes

A

karyotyping

36
Q

Using fluorescent probes to detect specific chromosome abnormalities

A

Fluorescence in situ hybridization (FISH)

37
Q

Comparing patient DNA with reference DNA to find variations

A

Comparative Genomic Hybridization (CGH)

38
Q

Causes of Mutations in Sex Cells

A

Environmental factors: Radiation, chemicals, viruses
Errors during DNA replication
Random chance during cell division

39
Q

environmental factors that might increase mutation rates

A

tobacco smoke
UV light
aristolochic acid

40
Q

Some heritable mutations can lead to: ___ ?

A

genetic disorders

41
Q

often caused by specific mutations in sex cells

A

Cystic fibrosis, sickle cell anemia, hemophilia

42
Q

show effects even if only one copy is present.

A

dominant mutation

43
Q

require two copies to show effects.

A

recessive mutation

44
Q

can identify mutations in sex cells
can inform individuals about potential risks for children
can also guide family planning decisions

A

genetic testing

45
Q

Changes in structure/number of chromosomes

A

Chromosomal Mutations in Sex Cells

46
Q

lead to rapid evolution but also 🔼 genetic disorders

A

high mutation rates

47
Q

lead to stagnation, reduced adaptability

A

low mutation rates

48
Q

risks of high mutation rates in a population

A

genetic disorders, reduced fitness & survival chances, evolutionary instability

49
Q

benefits of high mutation rate in a population

A

genetic diversity, evolutionary innovation, adaptive evolution

50
Q

Chromosomal Mutations in Sex Cells examples

A

Down syndrome, Klinefelter syndrome, Turner syndrome

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