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The Variability Of The Human DNA Sequence, Multifactorial Diseases And Personalized Medicine
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There is no single “normal” human DNA sequence; in fact, there isn’t even a single “normal” sequence for any of our genes Alleles And Genotypes For the typical gene, there are many different specific versions of the gene’s sequence in the human population Each of the different specific versions of the gene’s sequence that exist in the population is referred to as an allele of that gene Most of them can be considered “normal” alleles, because they enable the gene to make a version of the protein that has a level of activity that supports normal development and function
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Your genotype for a gene is comprised of the alleles you possess of that gene Alleles And Genotypes You may have a heterozygous genotype, in which the two different alleles have different sequences For the typical gene, we each have two alleles (forget for the moment that males only have one copy of their X and Y chromosome genes) You may have a homozygous genotype, in which both alleles have the same sequence
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In the previous unit, we discussed the mechanism whereby a gene makes its protein. The process can be summarized as: Recall The Mechanism Whereby A Gene Makes A Protein The sequence of amino acids in the protein determine the function the protein can perform, as well as the level of activity at which the protein works The sequence of bases in the gene’s coding sequence determines the sequence of bases in the gene’s messenger RNA The sequence of bases in the gene’s mRNA determines the sequence of amino acids in the protein
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Differences In A Gene’s Coding Sequence Cause Different Amino Acids To Be Put Into The Protein
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Some Amino Acid Substitutions Will Alter The Level Of Activity In The Protein If the amino acids are different enough in size and charge, this will alter the activity of the protein
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Recall that the promoter is where the transcription factors bind to the gene and regulate the rate of activity in the gene Variations In Promoter Regions Are A Huge Source Of Variability Between Individuals If two people have different sequences in their promoter region, one person’s gene may be making more of the protein than the other person’s gene is making We still do not know exactly which sequences serve as the promoters for many of our genes We already have evidence that variations in promoter regions account for as much, if not more, of the person-to-person variability in protein activities than coding region variations do
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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 Healthy People Have Potentially Disease-Causing Sequence Abnormalities The list includes: 190–210 insertions or deletions in a gene’s coding sequence
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