Genetic disorders
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Genetic Disorders. In general…. Most traits are neither harmful or helpful Ex. Blood type – there is no advantage or disadvantage to having A or B blood type Some are helpful Ex. Coloration on an animal Mimicry Camouflage Some are harmful Ex. Health risks. Autosomal diseases.

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Genetic Disorders

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Genetic disorders

Genetic Disorders


In general

In general…

  • Most traits are neither harmful or helpful

    • Ex. Blood type – there is no advantage or disadvantage to having A or B blood type

  • Some are helpful

    • Ex. Coloration on an animal

      • Mimicry

      • Camouflage

  • Some are harmful

    • Ex. Health risks


Autosomal diseases

Autosomal diseases

  • Autosomal traits – carried on autosomes

    • 22 pairs of autosomes

    • 1 pair of sex chromosomes

      • X and Y


Inherited diseases

Inherited Diseases

  • Some diseases are genetic (passed down from one generation to the next)

  • Many inherited diseases result from mutations

    • What is a mutation?

  • Most are autosomal

    • Cystic fibrosis

    • Huntington disease

    • Sickle cell

  • Others on sex chromosomes


Cystic fibrosis cf

Cystic fibrosis (CF)

http://www.youtube.com/watch?v=L10W9MdRjPs

  • Disease affecting sweat and mucous glands

  • Chloride ions outside of cells lead to problems maintaining salt balance

  • Affects lungs – thicker and stickier mucous

    • Difficulty breathing

    • Supports bacterial growth

  • Also affects pancreas, liver, and sex organs

  • Autosomal recessive


Huntington disease

Huntington Disease

  • Degenerative disease of the nervous system

  • Progressive – worse over time

    • Eventually breaks down nerves in the brain

  • Causes:

    • Uncontrollable movements

    • Mental deterioration

    • Premature death

  • Autosomal DOMINANT

  • Generally has late onset

http://www.youtube.com/watch?v=MRZoM5L5dak


Sickle cell

Sickle Cell

  • Changes in hemoglobin (a protein in blood)

  • Red blood cells fold into a sickle shape

  • Problems:

    • blockages in blood flow

    • Weakness and pain

    • Damanges brain, heart and spleen

  • Can be fatal

  • Autosomal recessive

  • Incomplete dominance

  • 1 allele means you have the sickle cell trait

  • Increases chances of surviving malaria


Hemophilia

Hemophilia

http://www.youtube.com/watch?v=uhyD0vdQDZs

  • Unable to produce normal clotting protein

  • Bruise easily

  • Can die from minor cuts – can’t stop bleeding

  • Commonly sex linked trait

  • Occurs mostly in what gender?


Genes and the environment

Genes and the Environment

  • Behavior or certain substances can affect the expression of a gene

  • Heart disease and diabetes

    • Genetic component accelerated by diet and exercise

  • Skin cancer

    • UV rays strongly related to skin cancer but a higher risk in fair skin and light hair and eyes


Pedigrees

Pedigrees

  • Chart or family tree, that traces the inheritance of a trait

  • Carriers have one copy of each gene


Genetic disorders

  • Horizontal lines indicate marriage or parentage

  • Vertical lines are children

  • Generations are numbered

  • People are

    numbered

  • Males = squares

  • Females = circles

  • Solid = affected

  • Blank = unaffected


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