GENETICS Flashcards

1
Q

What is chromatin?

A

It is strands of DNA

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2
Q

List all phases of Mitosis.

A

Interphase (G1, S, G2), Prophase, Metaphase, Anaphase, Telophase, Cytokinesis.

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3
Q

Somatic cells are found in __________ and contain _____ chromosomes.

A

The body, 46

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4
Q

What are gametes? How many chromosomes do they have?

A

Gametes are sperm or egg cells that have 23 chromosomes in each.

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5
Q

What are the strands that attach to the sister chromatid centromeres called?

A

Mitotic spindles

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6
Q

What is a diploid cell?

A

It is a cell that has two identical copies of haploid cells.

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7
Q

What is the equation for the diploid cells?

A

2n=46

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8
Q

Diploid cells have two sets of 23 chromosomes. What are they names of each set?

A

Maternal and paternal.

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9
Q

What is a homologous chromosome?

A

Two chromosomes composing a pair that have the same length, centromere, position, and staining pattern.

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10
Q

What is an example of a homologous chromosome?

A

homologous chromosomes will have the eye colour gene at an equivalent location.

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11
Q

What chromosomes are the sex chromosomes?

A

X and Y

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12
Q

What are autosomes? What is the only chromosome that isn’t an autosome?

A

They are other chromosomes that are numbered from 1 to 22. The 23rd chromosome is the X or Y chromosome that isn’t an autosome.

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13
Q

Gametes contain a single set of chromosomes. What is this called in terms of the chromosomes?

A

Haploid cell.

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14
Q

What is the haploid cell equation?

A

n=23

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15
Q

What is the difference between male and female homologous sex chromosomes?

A

Females have a pair of X chromosomes whereas males have one X and one Y chromosome.

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16
Q

Where does human life begin? What is it called?

A

When a haploid sperm fuses with a haploid egg. It is called fertilization.

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17
Q

When fertilized, what type of cell is a Zygote?

A

It is a diploid cell containing two sets of haploid chromosomes from the maternal and paternal genes.

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18
Q

Are gametes produced in the body by the process mitosis?

A

No. Gametes are the only cells in the human body not produced by mitosis.

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19
Q

Gametes are specialized cells, where did they develop from?

A

They develop from germ cells in the gonads (ovaries and testes).

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20
Q

What is Meiosis?

A

it goes from being a diploid to a haploid

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21
Q

Where does meiosis only occur?

A

In the germ cells otherwise known as the gonads (ovaries and testes)

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22
Q

What are the two outcomes of meiosis?

A

Genetic Reduction (cell division that reduces half the chromosomes from parent cell) and Genetic Recombination (different alleles amd increases variation).

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23
Q

After chromosomes duplicate in interphase they will divide twice to yield…

A

Four haploid daughter cells.

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24
Q

What is sister chromatid cohesion?

A

Sister chromatid cohesion is when the sister chromatids are two copies of one chromosome.

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25
Q

In interphase, what happens to the cell?

A

The cell goes through growth and synthesis phase before dividing, it replicates the chromosome which is held together by centromeres.

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26
Q

What is the meiosis cycle?

A

Meiosis has two cycles with four phases in each.

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27
Q

Explain what happens in Prophase I.

A

Synapsis and Crossing over

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28
Q

What is synapsis? (Hint: its in prophase I)

A

It is when the paired homologs are physically connected along their lengths by a zipper-like protein.

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29
Q

What is crossing over? (Prophase I)

A

It is genetic rearrangement between non sister chromatids. It exchanges corresponding segments of DNA molecules.

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30
Q

What is chiasmata?

A

A structure that forms between a pair of homologous chromosomes by crossover recombination and links the homologs during meiosis.

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31
Q

What happens in Metaphase I?

A

The homologous chromosomes are now arranged with one pair facing each pole. They are attached to kinetochore microtubules.

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32
Q

What happens in Anaphase I?

A

Break down of proteins allows homologs separate. The sister chromatid cohesion is still intact and the pole moves the homologs toward the same pole.

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33
Q

What happens in Telophase I and cytokinesis?

A

The microtubules break down, the nuclear membrane reforms, and the chromosomes return to an uncondensed state. The cell then divides into two haploid daughter cells by cytokinesis.

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34
Q

What happens in Prophase II?

A

Spindle forms and chromosomes move toward metaphase plate.

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35
Q

What happens in Metaphase II?

A

Similar to mitosis but the sister chromatids are no longer identical because of crossing over in Meiosis I.

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36
Q

What happens in Anaphase II?

A

The proteins breakdown which allows the chromatids to separate and move towards the poles of as individual chromosomes.

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37
Q

What happens in Telophase II and Cytokinesis?

A

The meiotic division of the parent cell produces four daughter cells each with a haploid set of chromosomes.

38
Q

What is Meiosis I also called?

A

It is called the reduction division because it halves the number of chromosomes sets per cell. It reduces from a diploid state to a haploid state.

39
Q

What is spermatogenesis?

A

It is where meiosis takes place in males.

40
Q

Where does spermatogenesis take place?

A

Meiosis takes place in the male testes.

41
Q

What is the diploid sperm cell called in spermatogenesis?

A

The diploid cell is called spermatogonium.

42
Q

When does meiosis start occurring in males? How many sperm haploid cells does meiosis create?

A

Puberty and during puberty the sperm cell undergoing meiosis will create 4 haploid sperm cells.

43
Q

In sperm where is the nucleus and other important molecules found?

A

The head of the sperm holds the nucleus and other molecules.

44
Q

What is oogenesis?

A

It is when meiosis takes place in the female body.

45
Q

What is the diploid cell called in oogenesis?

A

The oogonium.

46
Q

When does meiosis start occurring in females, and what does the process yield?

A

Meiosis in females takes place before birth, they go through meiosis and creates an unequal division of cytoplasm.

47
Q

What happens to the unequal division of cells in oogenesis?

A

Which ever cell that has the most cytoplasm will continue through meiosis I and II.

48
Q

When does the process of meiosis end in females?

A

It ends once the viable egg is fertilized by the sperm.

49
Q

How does fertilization of a viable egg occur?

A

Once the egg is mature, the eggs nucleus will fuse with the sperms nucleus to yield a diploid zygote.

50
Q

Can gametes that have errors survive and be fertilized?

A

Yes.

51
Q

What are the 4 errors that occur to chromosome STRUCTURE.

A

Deletion, duplication, inversion, translocation.

52
Q

Explain the error called Deletion. Provide its example and which chromosome it affects.

A

It is when a piece of chromosome is deleted. The result is Cri du Chat syndrome. It happens by deletion in chromosome 5.

53
Q

Explain the error called Duplication. Provide its example and which chromosome it affects.

A

It is when a section of the chromosome appears two or more times in a row. The result is Charcot-Marie-Tooth Disease, this happens when chromosome 17 duplicates.

54
Q

Explain the error Inversion. Provide its example and which chromosome it affects.

A

It is when a section of the chromosome is inverted. The result is FG Syndrome, this happens in a section of the X chromosome. This syndrome occurs mostly in males.

55
Q

Explain the error Translocation. Provide its example and which chromosome it affects.

A

It is when a segment of one chromosome breaks off and attaches to a different chromosome. The result is Chronic Myelogenous Leukemia (CML). It occurs between the chromosomes 9 and 22.

56
Q

What are the symptoms of Cri du Chat syndrome? Which chromosome does it occur from?

A

Symptoms: high-pitched cat-like cry, low birth weight, widely spaced eyes, recessed chin, and cognitive delays. It occurs in chromosome 5.

57
Q

What are the symptoms of Charcot-Marie-Tooth Disease? Which chromosome does it occur from?

A

Symptoms: muscle weakness, loss of sensation in hands feet and lower legs, and a high foot arch with constantly flexed toes. It occurs from chromosome 17.

58
Q

What are the symptoms of FG Syndrome? Which chromosome does it occur from?

A

Symptoms: intellectual disabilities, delayed motor development, low muscle tone, and broad toes and thumps. This occurs in the X chromosome (males)

59
Q

What are the symptoms of Chronic Myelogenous Leukemia?

A

Symptoms: cancer of white blood cells. Occurs in chromosomes 9 - 22.

60
Q

What are the errors caused by changes in chromosome NUMBER?

A

Non-disjunction, Trisomies, and Monosomies

61
Q

Define non-disjunction.

A

It is the failure of the homologous chromosome pairs or sister chromatids to separate during Meiosis. This occurs in Anaphase I or II.

62
Q

What happens with non-disjunction in anaphase I?

A

During anaphase I it occurs when homologous chromosome pairs do not separate to the opposite poles. One pair of is pulled to the same pole.

63
Q

What happens with non-disjunction in anaphase II?

A

During anaphase II it occurs when the sister chromatids do not separate again to the opposite poles. The result is too few or too many chromosomes.

64
Q

Explain what is going on in this image.

A

In A it goes through non-disjunction producing 1 gamete with one extra chromosome leaving the other gamete with zero. During meiosis II it produces too many chromosomes in the 2 gametes leaving the other two with no chromosomes.

In B it goes through correct anaphase I however the gametes produced had one normal anapahse II and one non-disjunction.

65
Q

For A, what would happen if the sperm fussed with one of the gametes with two chromosomes? What would happen with the empty chromosome?

A

If a sperm gamete fused with the egg gamete with 2 chromosomes the zygote, if successful will have 3 chromosomes.

If a sperm gamete fused with the egg gamete that had no chromosomes the result would be the zygote having only 1 chromosome.

66
Q

Define Trisomy

A

It is the gaining of an extra chromosome (3 in total) as a result of non-disjunction.

67
Q

Define Monosomy

A

The loss of a chromosome (1 in total) as a result of non-disjunction.

68
Q

What is Patau syndrome?

A

It is a trisomy in chromosome 13. It causes intellectual/physical disabilities, organ defects, cleft palates, and early death.

69
Q

What is Edward syndrome?

A

It is a trisomy in chromosome 18. It causes intellectual/physical disabilities, facial abnormalities, extreme muscle tone, clubbed foot, early death.

70
Q

What is Down syndrome?

A

It is a trisomy in chromosome 21. It causes intellectual/physical disabilities, abnormal palm creases, almond shaped eyes, flattened face, short stature.

71
Q

What is Klinefelter syndrome?

A

It is an extra X chromosome in males (XXY). It causes sexual immaturity, breast swelling, feminized physique.

72
Q

What is Jacobs syndrome?

A

It is an extra Y chromosome in males (XYY). It causes no unusual symptoms, some may be taller than average, reading and speech underdevelopment, and aggressiveness.

73
Q

What is the Triple X syndrome?

A

It is an extra X chromosome in females (XXX). It causes menstrual irregularity, aggressiveness, delayed motor skills. Goes unnoticed.

74
Q

What is Turner syndrome?

A

It is when there is only one X chromosome in females (X0). It causes short stature, webbed neck, sexual underdevelopment, facial hair, and infertility.

75
Q

Who was Gregor Mendel?

A

Mendel was an Austrian monk that studied math and botany. He is known as the father of genetics.

76
Q

Why did Mendel choose the pea plant for his study?

A

He used because they were readily accessible, had many traits, easy to grow, and they were naturally self pollinating.

77
Q

Define heterozygous.

A

Carries two different alleles at the same locus on the gene.

78
Q

Define homozygous.

A

Carries two identical alleles at the same locus on the gene.

79
Q

Define the law of independent assortment.

A

How genes independently separate when the reproductive cells develop.

80
Q

Define independent dominance.

A

It is when neither allele is dominant to each other but instead F1 hybrids are a blend of the two parental traits.

81
Q

Explain complete dominance.

A

F1 hybrids will always look like one parent. One trait will always be dominant or recessive.

82
Q

Explain co-dominance.

A

Both alleles are fully expressed and dominant.

83
Q

What are the four blood types? (No negatives or positives).

A

Type: A, B, AB, O

84
Q

Define sex-linked gene.

A

A gene located on either sex chromosome.

85
Q

Why are there few disorders that fathers can pass onto their sons?

A

The Y chromosome can only be passed on to male offspring. With fewer than 100 genes on the Y chromosome it isn’t as common for males to inherit any disorders from their father.

86
Q

Can fathers pass their X-linked alleles to their daughters and their sons?

A

No, only daughters inherit the alleles from their fathers X chromosome.

87
Q

Can mothers pass their X-linked alleles to both daughter and son?

A

Yes.

88
Q

If a father has a disorder and it is X-linked and dominant, what is the chance the father will pass this disorder on to his daughter?

A

100% this is because it is dominant and because the daughter will receive the mothers and fathers X chromosome.

89
Q

If a male receives a recessive allele from his mother, will he express this trait?

A

Yes he will because if the mother passes on the recessive X and the father passes on the Y, then he will express the X.

90
Q

What is hemophilia?

A

Blood clotting disorder.

91
Q

If a male suffers from hemophilia, who did he inherit it from?

A

His mother because hemophilia is a X-linked disorder and males can only receive X genes from mother.

92
Q

If a man suffers from hemophilia, what is the percentage in which his son might carry the trait?

A

0% because disorder is X linked.