Genetic Diseases: Categories

by Georgina Cornwall, PhD

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    As we go through this course, I’ll be covering several different categories of genetic diseases. The first category that we’ll look at are chromosomal disorders. These are disorders on the level of the whole chromosome that we can see in visualizing someone’s karyotype. Then we’ll also consider single-gene disorders. Single-gene disorders are the ones you’re probably more familiar with from you class in general biology. We’ll look at classic inheritance patterns, things that we can predict might happen with a pedigree. Then we’ll consider multifactorial disorders. We’re understanding today with our advent in understandings of genomic that multifactorial genetic conditions are the majority of genetic conditions. For example, we are learning a lot more about breast cancer. As we understand that there's a genetic link with breast cancer, not necessarily just BRCA1 and BRCA2, we’re understanding that the environment and so many other factors can affect how and when that disorder might be expressed. So, things are going to get a lot more complicated as we learn more and more that the skills available to us in genetic medicine are going to become much more robust. So when we consider chromosomal disorders, we’re looking at large scale mutations on the chromosomal level. This can involve having a whole extra copy of that chromosome. For example, in trisomy 21, we have three copies. The normal condition, we would just have two copies. That provides just the right amount of gene product. But with three copies, we have an excessive gene product. So really, we’re talking about extents or deficiency in gene products. We don’t see mutation of any individual genes in this case, just this whole segment duplications or deletions or whole chromosome duplications or deletions. So, we’ll cover a number of different chromosomal disorders as we dig deeper into the...

    About the Lecture

    The lecture Genetic Diseases: Categories by Georgina Cornwall, PhD is from the course Introduction to Medical Genetics.

    Included Quiz Questions

    1. Single-gene disorders
    2. Epigenetic disorders
    3. Multifactorial disorders
    4. Chromosomal disorders
    5. Imprinted disorders
    1. Turner Syndrome – Chromosomal disorder
    2. Sickle Cell Anemia – Multifactorial disorder
    3. Parkinson Disease – Single-gene disorder
    4. Down’s Syndrome – Multifactorial disorder
    5. Diabetes - Chromosomal disorder
    1. Mutation of a nucleotide on short arm of chromosome 11
    2. Extra copy of chromosome 21
    3. Presence of only one X chromosome in a female
    4. Deletion of a small segment of long arm of chromosome 7
    5. Presence of 47 chromosomes in a human

    Author of lecture Genetic Diseases: Categories

     Georgina Cornwall, PhD

    Georgina Cornwall, PhD

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