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Exam 13: Chromosome Aberrations and Transposition

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Question 21

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How might L1 retrotransposons be useful as a potential gene therapy agent? What are the problems with using this strategy for gene therapy?

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Because the retrotransposons can be inse...

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Question 22

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A chromosome contains the following gene order: A B C D • E F G H Which of the following rearrangements represents a pericentric inversion?

A) A B C • D E F G H
B) A F G H • B C D E
C) A C B D • E F G H
D) A F D E • C B G H
E) A B C D • H G F E

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Question 23

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________ is rare and occurs most commonly when repetitive regions of homologous chromosomes misalign, resulting in partial deletions and partial duplications.

Chromosomal translocation involves chromosome breakage and reattachment of the broken segment to a ________.

In balanced translocation heterozygotes, which pattern of chromosome segregation produces viable gametes and progeny?

In an allopolyploid organism, what is true regarding the fertility of interspecies hybrids?

A chromosome has broken, and a piece of one chromosome is translocated to a non-homologous chromosome. This is an example of what type of chromosomal alteration?

A chromosome contains the following gene order: A B C D • E F G H Which of the following rearrangements represents a paracentric inversion?

Prader-Willi and Angelman syndromes are caused by which type of chromosomal mutations, both in connection with chromosome 15?

An organism with a genome size of n = 23 experienced a Robertsonian translocation. How many chromosomes would you expect to see in the karyotype of a somatic cell in an affected individual?

"Seedless" fruits and vegetables have how many chromosomes and what type of chromosomal distribution?

What is the name of the chromosomal region, located on region 21q22.2, that was identified by studying individuals with partial trisomy of chromosome 21?

McClintock's transposable genetic element hypothesis was that the unstable mutant phenotype resulted when a ________ created a mutation by its insertion into the ________ allele and led to reversion when the expression of ________ led to its removal.

Humans with the condition of familial Down syndrome exhibit which type of chromosomal aberration?

A region of a chromosome on spanning the centromere is broken and reattached in the reverse direction. This is an example of which type of chromosomal defect?

Which enzyme(s)is/are responsible for excising and copying transposable genetic elements from chromosomes and inserting them into new locations?

What sequences or structures within the DNA can be used to identify sites of transposition?

________ is a genetic phenomenon that occurs when a normally recessive allele is "unmasked" and expressed in the phenotype because the dominant allele on the homologous chromosome has been deleted.

What type of aneuploidy is responsible for Turner syndrome in humans?

Describe two mechanisms for causing uniparental disomy, and explain how this chromosomal defect is involved in Prader-Willi syndrome and Angelman syndrome.