Chapter 4b - Variations in Genome Structure (Changes in Chromosome Structure) Flashcards

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1
Q

chromosomal aberrations

A
  1. alterations in number of genes
  2. alterations in location of genes
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2
Q

alterations in number of genes

A
  • deletions
  • duplications
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3
Q

alterations in location of genes

A
  • inversions
  • translocations
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4
Q
  • loss of chromosomal segment
  • could be homozygous or heterozygous
A

deletions

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5
Q

genetic effects of deletions

A
  • lethal in homozygous and hemizygous condition
  • reduced viability
  • modified phenotypic ratio
  • pseudodominance
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6
Q

situation in which the inheritance of a recessive trait mimics a dominant pattern

A

Pseudodominance

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7
Q

due to a deletion in the short arm of chromosome #5

A

Cri du chat syndrome

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8
Q

chromosome 7 loses an end piece

A

Williams syndrome

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9
Q

symptoms of people with Williams syndrome

A
  1. turned up nose
  2. wide mouth, small chin
  3. poor academic skills
  4. developed verbal and musical skills
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10
Q

due to repeated portion in a chromosome due to unequal crossing oer or errors in replication

A

duplication

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11
Q

genetic effects of duplications

A

gene redundancy

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12
Q
  • occur when parts of chromosomes become detached, turn thruogh 180 degrees and reinserted in such a way that the genes are in reversed order
  • arise from chromosome entanglements and breakages during meiotic prophase; also from recombination between transposable elements
  • cause linear rearrangement of genes in a chromosome
A

inversions

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13
Q

two types of inversion

A
  1. pericentric inversion
  2. paracentric inversion
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14
Q

inversion that is situated in a chromosome arm to one side off the centromere

A

paracentric inversion

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15
Q

color pattern due to a large inversion on Equus caballus chromosome 3

A

tobiano color pattern

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16
Q

inversion on Equus caballus chromosome

A

alter expression of KIT receptor tyrosine kinase

17
Q

inversion where centromere is included

A

pericentric inversion

18
Q
  • involves interchange of blocks of genes between two nonhomologous chromosomes
  • linkage relationships between genes change
A

reciprocal translocation

19
Q

types of reciprocal translocation

A
  1. alternate
  2. adjacent 1
  3. adjacent 2
20
Q
  • translocation places the c-myc protooncogene in the vicinity of the immunoglobulin heavy chain enhancer
  • causes overproduction of c-mye
A

Burkitt’s lymphoma

21
Q

reciprocal translocation involves exchange between what chromosomes

A

two NON-HOMOLOGOUS chromosomes

22
Q

reciprocal transloctaion between chromosome 2 and 20

A

Alagille Syndrome

23
Q

reciprocal translocation between chromosome 9 and 22

A

Philadelphia Chromosome

24
Q

Chromosomal Structure Abnormalities

A
  1. translocation
  2. deletion
  3. insertion
  4. inversion
  5. isochromosome
  6. derivative chromosome
  7. ring chromosome