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Genetic Disorders

Genetic Disorders. What are they?. A disease that is caused by an abnormality in a person’s DNA. Types of Disorders. Single Gene Disorders A mutations causes the protein product to be altered or missing Chromosomal Abnormalities

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Genetic Disorders

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  1. Genetic Disorders

  2. What are they? • A disease that is caused by an abnormality in a person’s DNA.

  3. Types of Disorders • Single Gene Disorders • A mutations causes the protein product to be altered or missing • Chromosomal Abnormalities • Entire chromosomes, or large segments of them are missing, duplicated, or altered. • Multi-factorial Disorders • Result from mutations in multiple genes coupled with environmental causes

  4. Single Gene Disorders Cystic Fibrosis • Recessive disorder • Usually helps move salt into & out of the cell • When defective it causes a thick, sticky mucous to be made • Causes issues with digestive system & lungs

  5. Single Gene DisorderSickle Cell Anemia • Recessive gene • Causes red blood cells to be rigid & concave • They are not able to transport oxygen very well (hemoglobin) • Resistant to malaria

  6. Single Gene DisorderHuntington’s Disease • Dominant disease • Causes brain cells to be destroyed that deal with movement, emotion, & thinking

  7. Single Gene DisorderPKU • Phenylketonuria (recessive) • Codes for an enzyme in the liver that breaks down the amino acid phenylalanine • Causes phenylalanine to build up in the blood which poisons brain cells (neurons) • Can’t eat protein!

  8. Chromosome AbnormalitiesNon-Disjunction Disorders • When homologous chromosomes or chromatids do not separate during meiosis • Results in • Monosomy – only one copy of a chromosome • Trisomy – having 3 copies of a chromosome

  9. Turner’s Syndrome • Only affect females • X (missing X) • Female appearance • Infertile • Don’t mature

  10. Klinefelter’s Syndrome • Only affects males • XXY (extra X) • Some female characteristics • Very little facial hair • Infertile (don’t produce sperm)

  11. Down Syndrome • Trisomy of chromosome 21 • Causes too much protein to be made, which causes problems

  12. Sex-linked or X-linked Traits • More genes can be carried on the X chromosome than the Y • Genes ONLY on X chromosomes are called “X-linked” • Since there is only one allele, the phenotype of that allele is expressed in males

  13. Examples

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