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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
Uniparental disomy
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.
26
Centromere
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.
27
Polyploid
Having some multiple of23 chromosomes greater than 2. They may also be called triploid, tetraploid, etc.
28
Sex chromosomes
Chromosomes that carry the genes necessary to determine sexual development.
29
Euploid
Having some multiple of 23 chromosomes in humans. A full set.
30
Inversion, paracentric and pericentric
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.
31
cartoon depiction of a banded chromosome.
Ideogram
32
means having a chromosome content that is not an even multiple of the set of 23.
Aneuploid
33
Microdeletions
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
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.
Gene Dosage
35
Chromosomes that carry the genes necessary to determine sexual development.
Sex chromosomes
36
Chromatid
is one of the two identical halves of a replicated chromosome.
37
Anaphase
the sister chromatids separate and migrate to the poles.
38
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.
Cell Cycle
39
Haploid
Containing one set of 23 chromosomes. Normal for germ cells (spermatozoa and ova)
40
Chromosomes with centromeres near one end of the chromosome.
Acrocentric
41
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.
Centromere
42
or true chromatin is loosely packed chromatin. This is where active gene expression can occur.
Euchromatin
43
the number and visual appearance of the chromosomes in the cell nuclei of an organism or species.
Karyotype
44
stays condensed at all times
Constitutive heterochromatin
45
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.
Mitosis
46
Mitosis
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
condensed at some times and loosely packed at other times
facultative heterochromatin
48
chromatin that is densely packed. The condensed segments stain deeply during interphase.
Heterochromatin
49
Chromosomes with centromeres near the center of the chromosome.
Metacentric
50
Acrocentric
Chromosomes with centromeres near one end of the chromosome.
51
an extra piece of DNA is inserted into a chromosome.
Insertion
52
Autosomes
Chromosomes that are not sex chromosomes.
53
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.
Nondisjunction
54
Deletion
a portion of a chromosome is missing.
55
a portion of a chromosome is missing.
Deletion
56
Pseudoautosomal Regions
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
Heterochromatin
chromatin that is densely packed. The condensed segments stain deeply during interphase.
58
the sister chromatids separate and migrate to the poles.
Anaphase
59
Synaptonemal Complex
is a highly ordered proteinaceous structure that assembles at the interface between aligned homologous chromosomes during meiotic prophase.
60
Gene Dosage
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
Containing one set of 23 chromosomes. Normal for germ cells (spermatozoa and ova)
Haploid
62
Diploid
Having two sets of 23 chromosomes. The normal state for most cells of the body.
63
Meiosis
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
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.
Meiosis
65
facultative heterochromatin
condensed at some times and loosely packed at other times
66
Independent Assortment
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
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.
Microdeletions
68
Chromatin
The DNA of chromosomes mixed with proteins and RNA that package it, protect it, and regulate cellular functions related to the DNA.
69
Euchromatin
or true chromatin is loosely packed chromatin. This is where active gene expression can occur.
70
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.
Robertsonian translocation
71
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.
Pseudoautosomal Regions
72
Telophase
two new nuclei form around the separated chromosomes.
73
two new nuclei form around the separated chromosomes.
Telophase
74
The DNA of chromosomes mixed with proteins and RNA that package it, protect it, and regulate cellular functions related to the DNA.
Chromatin
75
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.
Uniparental disomy
76
two chromosomes swap segments.
reciprocal translocations
77
Cell Cycle
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
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.
Inversion, paracentric and pericentric
79
Karyotype
the number and visual appearance of the chromosomes in the cell nuclei of an organism or species.
80
The period of the cell cycle between each cell division.
Interphase
81
Having some multiple of23 chromosomes greater than 2. They may also be called triploid, tetraploid, etc.
Polyploid
82
Chiasma
a specialized structure that results from crossing over. This is where paired chromosomes are held together until their final separation during metaphase.

Cell Bio/Phys (2 decks)

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