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Region variations do healthy people have potentially

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Unformatted text preview: ty in protein activities than coding region variations do Healthy People Have Potentially Disease-Causing Sequence Abnormalities If you compare the typical person’s DNA sequence against the reference human DNA sequence, there are approximately 10,000-11,000 places at which you can find alterations in the DNA sequence that are expected to change the level of activity in one of our proteins The list includes: 190–210 insertions or deletions in a gene’s coding sequence 80–100 changes in a gene’s coding sequence that will cause the cell to stop making the protein before it has been completed (nonsense mutations) 220–250 deletions that cause the cell to put the wrong amino acid building blocks into the protein (frame shift mutations) Healthy People Have Potentially Disease-Causing Sequence Abnormalities There are also 10,000–12,000 places at which you can find alterations in the DNA sequence that are not expected to change the level of activity in one of our proteins In all likelihood, however, as we learn more about the factors that influence the activity of our proteins, some of those DNA sequence changes will be shown to influence a protein’s activity Healthy People Have Potentially Disease-Causing Sequence Abnormalities There are approximately 15 million places in the DNA sequence where some people have one base (e.g. an A), and other people have a different base (e.g. a C, G or T) These are called single nucleotide polymorphisms, or SNPs (pronounced “snips”) There are approximately 1 million places in the typical person’s DNA sequence where there is a short stretch of DNA that has been either added in or taken out, compared to the reference human DNA sequence Healthy People Have Potentially Disease-Causing Sequence Abnormalities They found 20,000 larger structural variants in the DNA of these subjects, involving situations in which a chromosome had lost material, gained material, had some material rearranged, or exchanged material with another chromosome There are already many of these types of chromosome rearrangements that have been reported to occur, but most of the chromosome rearrangements the 1,000 Genomes project reported had not been reported before This suggests that there are many more chromosome rearrangements in the population that have never been reported, most likely because the people who had them were normally developed, so they never got their chromosomes looked at Healthy People Have Potentially Disease-Causing Se...
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This document was uploaded on 02/25/2014.

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