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BRCA2 Gene

by Georgina Cornwall, PhD
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    00:00 And we will look at haplotypes in action here in just a moment. Here is our BRCA2 gene.

    00:03 This is on hapmap.org. HapMap is one of the data bases where researchers have put their information on single nucleotide polymorphisms that they have identified in various populations and associated with specific gene functions. Looking at a very small locus in a chromosome for the BRCA2 gene exhibited by the vertical yellow stripe up at the top very narrow region, and we can expand that out into a longer region and now we will look at the yellow band on this one to see the expanded version of all of the single nucleotide polymorphisms. More than you thought yes. There are lots of research projects going on to look at single nucleotide polymorphisms at all these different loci. Here, for example, let us just pick one that is easy to pick out. We will look at this C locus, so we could have C or we could have T at that locus. And if we have C or T, we could see different phenotypes. Let us look further at what could happen when we click literally online, when we click on that locus, we can see that a study pops up that shows the frequency of the C versus the frequency of the T and specific populations where research on that locus has been done. Really pretty cool stuff. I recommend you get out there on HapMap or any of the other data base sites for a single nucleotide polymorphism and see if you can make some sense of it. Clearly you can see also, there are exons and introns marked on the yellow band below. The introns are not going to be expressed. The exons are going to be expressed, but it doesn't really matter whether they are an introns or an exon because we call the single nucleotide polymorphisms are just there to associate with the genes. Let us look at how that works.

    02:12 These Genome Wide Association Studies are using single nucleotide polymorphisms to identify specific mutations. They are not the mutation themselves, but they are often close to the mutation such that it is very unlikely that are crossing over event would happen between the single nucleotide polymorphism and the actual gene of interest. They are very close.

    02:42 The closer they are, the less likely there is for crossing over, in fact, these are so close that they barely ever could be. It is up in the billions of a possibility that it could have a crossing over an event in between there. What that means is they are essentially the single nucleotide polymorphism and the character are very close together. For example, here we can see the SNP locus and you could have C or the T in this locus, very close to it. But not in the gene, we could see if that person is high risk or low risk, the Genome Wide Association Study is going to tell us that perhaps C is the high-risk version of the allele to have and T is the lower risk version and so as such we can test to see if someone has that gene present with the high risk and there might be high risk for breast cancer.

    03:39 I don't know if it is really the C or T, this is just an example. Don't go diagnosing with that. Anyway, that is how great we can see what genes using single nucleotide polymorphisms?


    About the Lecture

    The lecture BRCA2 Gene by Georgina Cornwall, PhD is from the course Genomics.


    Included Quiz Questions

    1. haplotype map.
    2. restriction map.
    3. SNP map.
    4. genomic map.
    1. …the development of haplotype map of the human genome to describe the common patterns of human genetic variations.
    2. …the development of haplotype map of the genomes of the pathogen organism to describe the common patterns of their genetic variations.
    3. …the development of haplotype map of the human fungal pathogen to describe the common patterns of their genetic variations.
    4. …the development of haplotype map of the human bacterial pathogen to describe the common patterns of their genetic variations.
    5. …the development of haplotype map of the human viral pathogen to describe the common patterns of their genetic variations.
    1. The BRCA genes (BRCA1 and BRCA2) participate in the repair of damaged DNA or destruction of cells where DNA can not be repaired.
    2. The damaged BRCA genes lead to increased breast cancer risk.
    3. The predominant alleles of BRCA genes lead to the skin cancer progression.
    4. The faulty promotor of the BRCA1 gene produces a protein which promotes the uncontrollable cell division in the breast tissue.
    5. The predominant allele of the BRCA1 gene produces a protein which promotes the uncontrollable cell division in the breast tissue.

    Author of lecture BRCA2 Gene

     Georgina Cornwall, PhD

    Georgina Cornwall, PhD


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