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Genetics > Chromosomal Variation > Flashcards

Chromosomal Variation Flashcards

1
Q

Reverse Duplication

A
  • Duplication of a chromosome segment in which the sequence of the duplicated segment is inverted relative to the sequence of the original segment.
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2
Q

Segmental Duplication

A
  • Duplicated chromosome segments larger than 1000 bp.
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3
Q

Karyotype

A
  • The complete set of chromosomes possessed by an organism; usually presented as a picture of a complete set of its metaphase chromosomes and arranged by length (longest to shortest).
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4
Q

Tandem Duplication

A
  • Chromosome rearrangement in which a duplicated chromosome segment is adjacent to the original segment.
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5
Q

Displaced Duplication

A
  • Chromosome rearrangement in which the duplicated segment is some distance from the original segment, either on the same chromosome or on a different one.
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6
Q

Chromosome Duplication

A
  • Mutation that doubles a segment of a chromosome.
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7
Q

Chromosome Rearrangement

A
  • Chromosome mutations that change the structures of individual chromosomes.
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8
Q

Chromosome Mutation

A
  • Variations in the number and structure of chromosomes; often affects many genes and has large phenotypic effects.
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9
Q

Paracentric Inversion

A
  • Chromosome inversion that does not include the centromere in the inverted region.
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10
Q

Chromosome Inversion

A
  • Rearrangement in which a segment of a chromosome has been inverted 180 degrees.
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11
Q

Chromosome Deletion

A
  • Loss of a chromosome segment.
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12
Q

Dicentric Chromatid

A
  • Chromatid that has two centromeres; produced when crossing over takes place within a paracentric inversion. The two centromeres of the dicentric chromatid are frequently pulled toward opposite poles in mitosis or meiosis, breaking the chromosome.
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13
Q

Pericentric Inversion

A
  • Chromosome inversion that includes the centromere in the inverted region.
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14
Q

Acentric Chromatid

A
  • Chromatid that lacks a centromere; produced when crossing over takes place within a paracentric inversion. The acentric chromatid does not attach to a spindle microtubule and does not segregate in meiosis or mitosis, so it is usually lost after one or more rounds of cell division.
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15
Q

Translocation

A
  • Movement of genetic material between nonhomologous chromosomes or within the same chromosome.
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16
Q

Nondisjunction

A
  • Failure of homologous chromosomes or sister chromatids to separate in meiosis or mitosis.
17
Q

Polyploidy

A
  • Possession of more than two sets of chromosomes.
18
Q

Robertsonian Translocation

A
  • Translocation in which the long arms of two acrocentric chromosomes become joined to a common centromere, generating a metacentric chromosome with two long arms and another chromosome with two very short arms.
19
Q

Nonreciprocal Translocation

A
  • Movement of a chromosome segment to a nonhomologous chromosome or chromosomal region without any (or with unequal) reciprocal exchange of segments.
20
Q

Reciprocal Translocation

A
  • Reciprocal exchange of segments between two nonhomologous chromosomes.
21
Q

Aneuploidy

A
  • Change in the number of individual chromosomes; most often an increase or a decrease of one or two chromosomes.
22
Q

Nullisomy

A
  • Absence of both members of a homologous pair of chromosomes (2n - 2).
23
Q

Allopolyploidy

A
  • Condition in which all chromosomes of a polyploid individual are from two or more species.
24
Q

Monosomy

A
  • Absence of one of the chromosomes of a homologous pair.
25
Q

Tetrasomy

A
  • Presence of two extra copies of a chromosome (2n + 2)
26
Q

Trisomy

A
    • Presence of an extra copy of a chromosome (2n + 1).
27
Q

Dosage Compensation

A
  • A mechanism to equalize the amount of protein produced by X-linked genes and autosomal genes. In placental mammals, dosage compensation is accomplished by the random inactivation of one X chromosome in the cells of females.
28
Q

Autopolyploidy

A
  • Condition in which all the sets of chromosomes of a polyploid individual are derived from a single species.
29
Q

Unbalanced Gametes

A
  • Gamete that has a variable number of chromosomes; some chromosomes may be missing and others may be present in more than one copy.

Genetics (13 decks)

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