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Genetic Disease

Genetic Disease. Dominant Inheritance rarely passed on as people with the disease don’t reproduce exception: Huntington’s Disease symptoms appear 40 years + (too late to stop reproduction) occasionally involuntary flailing movements of arms and legs

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Genetic Disease

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  1. Genetic Disease

  2. Dominant Inheritance • rarely passed on as people with the disease don’t reproduce • exception: Huntington’s Disease • symptoms appear 40 years + (too late to stop reproduction) • occasionally involuntary flailing movements of arms and legs • eventual dementia (loss of ability to think clearly) Genetic Disease

  3. Genetic Diseases

  4. Recessive Inheritance • e.g Albinism • melanin: yellow black pigment (made from an amino acid, tyrosine) • Produced by melanocytes (special skin cells) • Albinism: one of the enzymes which helps form tyrosine is missing  no melanin is formed • Dominant allele: normal enzyme production • Recessive allele: abnormal, no enzyme produced  no tyrosine  no melanin • Amount of melanin produced depends on many other alleles Genetic Disease

  5. Genetic Diseases

  6. Genetic Counselling • Advice given regarding risks of genetic abnormalities in a child • may result in a termination • Human Genome Project • Genome: complete set of genetic info of an organism. (mapping sequence of nucleotides in all genes (20000-25000) in all 46 chromosomes) • launched in 1990 – 2003 • all genes have been identified in addition to most of the possible alleles for each gene. • genetic counsellors are able to make predictions from an individuals genome as to the likeliness of a certain disease expressing itself within the individuals lifetime. Genetic Diseases

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