Using this article: http://www.nature.com/scitable/topicpage/dna-deletion-and-du

Question

Using this article:

http://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331

1. What is a chromosomal duplication? Are chromosomal duplications always deleterious? Explain.

2. What is a haploinsufficiency?

3. What is a recombination hotspot and why is it difficult to identify such hotspots in humans?

4. If the copy number of specific genes must be tightly regulated to ensure that the organism receives the correct dosage of a given gene product, shouldn’t the presence of two X chromosomes in human females vs. only one X chromosome in human males be problematic? Explain.

Explanation / Answer

1) A particular type of mutation which involves the production of one or more copies of the any piecees of DNA, including sometimes even a gene or even an entire chromosome is called chromosomal duplication. It is generally disadvantageous but not always harmful. An example of its effect is Down's syndrome in humans. it is necessary because it provides a way to get new capabilities while still retaining the old capabilities.

2 It is defined as situation in which the complete level of the gene product  generated by the cell is normally half of the normal level and itt is not sufficient to permit the cell to function normally.

3) Recombination hotspots are the areas of the genome that undergo recombination at comparitively higher rates than average rate and they contribute to the genomic diversity within and between the populations. these hotspots vary in intensity and they are almost 25000 likely hotspots in human which makes them difficult to spot in humans.

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