Wednesday, November 3, 2010

Genetic Diseases

Also called genetic disorders, they are caused by abnormalities in a person's DNA. These abnormalities can range from a small mutation in a single gene, to the addition or subtraction of entire chromosomes.
Types of Disorders:
  • Multifactorial Disorders, also called complex or polygenic disorders, are the result of mutations in multiple genes. They are associated with environmental causes.
    • Hypothyroidism
    • Colon Cancer
    • Ovarian/Breast Cancer
    • Alzheimer's Disease
  • Chromosomal Genetic Diseases have the absence, duplication, or alteration of entire chromosomes. Abnormalities in the structure or number can result in some of the most dangerous genetic diseases. 
    • Cri-du-Chat syndrome
    • Down syndrome
    • Klinefelter syndrome
    • William's syndrome
    • Turner syndrome
  • Single-Gene disorders result when there is an alteration of one gene. Genes code for proteins, which perform most life functions. When a gene is mutated so that its protein product can no longer carry out its normal function, a disorder can result.
    • Cysitc fibrosis
    • Huntington's disease 
    • Neurofibromatosis 1 (NF1)
    • Sickle cell disease
  • Mitochondrial Disorders are rare types of genetic disorders caused by mutations in the nonchromosomal DNA of mitochondria. Mutations in the mitochondrial DNA can cause many undesireable results.
    • Leber's hereditary optic atrophy
    • Kearns-Sayre disease
    • Myoclonus epilepsy
    • MELAS
Questions:
  1. Aside from the four examples I have provided of multifactorial disorders, find one more and describe the environmental causes it is coupled with.
  2. Both males and females can get mitochondrial diseases equally, but always get it from their mother. Explain how this is possible.
  3. Describe some ways people at risk of or have a single gene disorder can be helped, despite the fact that there are no known cures for these disorders.

3 comments:

  1. 1. Epilepsy would be another example of a multifactorial disorder. Its environmental impact would be the environment you're around my result in you having a seizure.
    2. Because the mother has two X chromosomes she has to pass on one of them and it depends on which one she passes whether you get the disease or not.
    3. They may be able to take certain drugs to help their body make the proteins necessary for daily functions.

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  2. 1.Multiple sclerosis is another example of a multifactorial disorder. The enviromental impact would be that more people would expierence an abnormal function of your body's immune system.

    2. This is because a mother has two X chromosomes and she has to pass on one of them so it depends on which one she passes on.

    3. A person could change their diet or take a drug in order for their body to make the neccessary proteins.

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  3. 1. Diabetes is also a multifactorial disorder. It is thought that the pollution in the environment is linked to diabetes.
    2. Mothers have two X cromosomes and one will get passed on to the child.
    3. People with single gene disorders can take certain drugs that allow there body to make more of the needed proteins.

    ReplyDelete