Genetics 2 Flashcards

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1
Q

Interphase

A

The period of the cell cycle between each cell division.

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2
Q

Insertion

A

an extra piece of DNA is inserted into a chromosome.

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3
Q

a portion of one chromosome is attached to another chromosome, SWAPPED

A

Translocation

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4
Q

Ideogram

A

cartoon depiction of a banded chromosome.

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5
Q

is one of the two identical halves of a replicated chromosome.

A

Chromatid

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6
Q

Metaphase

A

Chromosomes align along the midplane

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7
Q

reciprocal translocations

A

two chromosomes swap segments.

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8
Q

is where a region of a chromosome is present twice in the chromosome.

A

Duplication

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9
Q

Having some multiple of 23 chromosomes in humans. A full set.

A

Euploid

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10
Q

Constitutive heterochromatin

A

stays condensed at all times

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11
Q

Robertsonian translocation

A

is a rare form of chromosomal rearrangement where the participating chromosomes break at their centromeres and the long arms fuse to form a single, large chromosome with a single centromere.

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12
Q

Chromosomes condense into discrete bodies.

A

Prophase

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13
Q

Chromosomes that are not sex chromosomes.

A

Autosomes

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14
Q

Translocation

A

a portion of one chromosome is attached to another chromosome, SWAPPED

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15
Q

Having two sets of 23 chromosomes. The normal state for most cells of the body.

A

Diploid

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16
Q

a specialized structure that results from crossing over. This is where paired chromosomes are held together until their final separation during metaphase.

A

Chiasma

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17
Q

Prophase

A

Chromosomes condense into discrete bodies.

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18
Q

Metacentric

A

Chromosomes with centromeres near the center of the chromosome.

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19
Q

Nondisjunction

A

the failure of one or more pairs of homologous chromosomes or sister chromatids to separate normally during nuclear division, usually resulting in an abnormal distribution of chromosomes in the daughter nuclei.

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20
Q

refers to the fact that individual chromosomes are segregated into daughter cells independent of each other during meiosis. Each cell get some paternal derived chromosomes and some maternal derived chromosomes.

A

Independent Assortment

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21
Q

Aneuploid

A

means having a chromosome content that is not an even multiple of the set of 23.

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22
Q

Duplication

A

is where a region of a chromosome is present twice in the chromosome.

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23
Q

Chromosomes align along the midplane

A

Metaphase

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24
Q

is a highly ordered proteinaceous structure that assembles at the interface between aligned homologous chromosomes during meiotic prophase.

A

Synaptonemal Complex

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25
Q

Uniparental disomy

A

occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other parent. It is a rare phenomenon believed to occur when trisomy is followed by loss of one extra chromosome or when monosomy is followed by nondisjunction. Some cases of Prader-Willi syndrome result from uniparental disomy.

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26
Q

Centromere

A

the specialized region of a chromosome to which the microtubules of the spindle attach during cell division. Special sequences occur in this region to assist in function.

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27
Q

Polyploid

A

Having some multiple of23 chromosomes greater than 2. They may also be called triploid, tetraploid, etc.

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28
Q

Sex chromosomes

A

Chromosomes that carry the genes necessary to determine sexual development.

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29
Q

Euploid

A

Having some multiple of 23 chromosomes in humans. A full set.

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30
Q

Inversion, paracentric and pericentric

A

is where a region of a chromosome exists in the reverse order relative to the normal pattern of bands or genes. A Paracentric Inversion does not include the centrosome and a Pericentric Inversion does include the centrosome.

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31
Q

cartoon depiction of a banded chromosome.

A

Ideogram

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32
Q

means having a chromosome content that is not an even multiple of the set of 23.

A

Aneuploid

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33
Q

Microdeletions

A

involve only small parts of chromosomes, but the missing segment may have important genes. An example of a microdeletion syndrome is the Prader-Willi syndrome characterized by decreased mental function, speech problems, and excessive eating.

34
Q

Normally, individuals inherit two copies of every gene. There are many situations wherein they may have more than two copies or fewer than two copies leading to increased expression or decreased expression of an essential gene product. The normal gene dosage would be two and anything else might cause issues. This concept will reoccur many times in this course.

A

Gene Dosage

35
Q

Chromosomes that carry the genes necessary to determine sexual development.

A

Sex chromosomes

36
Q

Chromatid

A

is one of the two identical halves of a replicated chromosome.

37
Q

Anaphase

A

the sister chromatids separate and migrate to the poles.

38
Q

a diagrammatic representation of the cycle of events that a cell progresses through between cell divisions. Most frequently, this is used when discussing events surrounding the genome of the cell.

A

Cell Cycle

39
Q

Haploid

A

Containing one set of 23 chromosomes. Normal for germ cells (spermatozoa and ova)

40
Q

Chromosomes with centromeres near one end of the chromosome.

A

Acrocentric

41
Q

the specialized region of a chromosome to which the microtubules of the spindle attach during cell division. Special sequences occur in this region to assist in function.

A

Centromere

42
Q

or true chromatin is loosely packed chromatin. This is where active gene expression can occur.

A

Euchromatin

43
Q

the number and visual appearance of the chromosomes in the cell nuclei of an organism or species.

A

Karyotype

44
Q

stays condensed at all times

A

Constitutive heterochromatin

45
Q

the process by which the genome is segregated as one cell divides into two cells. This typically occurs in most somatic cells of the body.

A

Mitosis

46
Q

Mitosis

A

the process by which the genome is segregated as one cell divides into two cells. This typically occurs in most somatic cells of the body.

47
Q

condensed at some times and loosely packed at other times

A

facultative heterochromatin

48
Q

chromatin that is densely packed. The condensed segments stain deeply during interphase.

A

Heterochromatin

49
Q

Chromosomes with centromeres near the center of the chromosome.

A

Metacentric

50
Q

Acrocentric

A

Chromosomes with centromeres near one end of the chromosome.

51
Q

an extra piece of DNA is inserted into a chromosome.

A

Insertion

52
Q

Autosomes

A

Chromosomes that are not sex chromosomes.

53
Q

the failure of one or more pairs of homologous chromosomes or sister chromatids to separate normally during nuclear division, usually resulting in an abnormal distribution of chromosomes in the daughter nuclei.

A

Nondisjunction

54
Q

Deletion

A

a portion of a chromosome is missing.

55
Q

a portion of a chromosome is missing.

A

Deletion

56
Q

Pseudoautosomal Regions

A

are the parts of the sex chromosomes that allow them to be paired together during meiosis. The function of these pseudoautosomal regions is that they allow the X and Y chromosomes to pair and properly segregate during meiosis in males.

57
Q

Heterochromatin

A

chromatin that is densely packed. The condensed segments stain deeply during interphase.

58
Q

the sister chromatids separate and migrate to the poles.

A

Anaphase

59
Q

Synaptonemal Complex

A

is a highly ordered proteinaceous structure that assembles at the interface between aligned homologous chromosomes during meiotic prophase.

60
Q

Gene Dosage

A

Normally, individuals inherit two copies of every gene. There are many situations wherein they may have more than two copies or fewer than two copies leading to increased expression or decreased expression of an essential gene product. The normal gene dosage would be two and anything else might cause issues. This concept will reoccur many times in this course.

61
Q

Containing one set of 23 chromosomes. Normal for germ cells (spermatozoa and ova)

A

Haploid

62
Q

Diploid

A

Having two sets of 23 chromosomes. The normal state for most cells of the body.

63
Q

Meiosis

A

is cell division that occurs in germ line cells to produce gametes for sexual reproduction. Two sequential divisions occur in order to produce 4 cells with a haploid number of chromosomes.

64
Q

is cell division that occurs in germ line cells to produce gametes for sexual reproduction. Two sequential divisions occur in order to produce 4 cells with a haploid number of chromosomes.

A

Meiosis

65
Q

facultative heterochromatin

A

condensed at some times and loosely packed at other times

66
Q

Independent Assortment

A

refers to the fact that individual chromosomes are segregated into daughter cells independent of each other during meiosis. Each cell get some paternal derived chromosomes and some maternal derived chromosomes.

67
Q

involve only small parts of chromosomes, but the missing segment may have important genes. An example of a microdeletion syndrome is the Prader-Willi syndrome characterized by decreased mental function, speech problems, and excessive eating.

A

Microdeletions

68
Q

Chromatin

A

The DNA of chromosomes mixed with proteins and RNA that package it, protect it, and regulate cellular functions related to the DNA.

69
Q

Euchromatin

A

or true chromatin is loosely packed chromatin. This is where active gene expression can occur.

70
Q

is a rare form of chromosomal rearrangement where the participating chromosomes break at their centromeres and the long arms fuse to form a single, large chromosome with a single centromere.

A

Robertsonian translocation

71
Q

are the parts of the sex chromosomes that allow them to be paired together during meiosis. The function of these pseudoautosomal regions is that they allow the X and Y chromosomes to pair and properly segregate during meiosis in males.

A

Pseudoautosomal Regions

72
Q

Telophase

A

two new nuclei form around the separated chromosomes.

73
Q

two new nuclei form around the separated chromosomes.

A

Telophase

74
Q

The DNA of chromosomes mixed with proteins and RNA that package it, protect it, and regulate cellular functions related to the DNA.

A

Chromatin

75
Q

occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other parent. It is a rare phenomenon believed to occur when trisomy is followed by loss of one extra chromosome or when monosomy is followed by nondisjunction. Some cases of Prader-Willi syndrome result from uniparental disomy.

A

Uniparental disomy

76
Q

two chromosomes swap segments.

A

reciprocal translocations

77
Q

Cell Cycle

A

a diagrammatic representation of the cycle of events that a cell progresses through between cell divisions. Most frequently, this is used when discussing events surrounding the genome of the cell.

78
Q

is where a region of a chromosome exists in the reverse order relative to the normal pattern of bands or genes. A Paracentric Inversion does not include the centrosome and a Pericentric Inversion does include the centrosome.

A

Inversion, paracentric and pericentric

79
Q

Karyotype

A

the number and visual appearance of the chromosomes in the cell nuclei of an organism or species.

80
Q

The period of the cell cycle between each cell division.

A

Interphase

81
Q

Having some multiple of23 chromosomes greater than 2. They may also be called triploid, tetraploid, etc.

A

Polyploid

82
Q

Chiasma

A

a specialized structure that results from crossing over. This is where paired chromosomes are held together until their final separation during metaphase.