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CHROMOSOMES AND CHROMOSOMAL MUTATIONS

CHROMOSOMES AND CHROMOSOMAL MUTATIONS. HOW DO THEY AFFECT YOU??. WHAT DO THEY LOOK LIKE?. I. The Human Genome. A. Our complete set of instructions, organized as genes and carried on the chromosomes. B. Completed in April, 2003 . II. Genetic Disorders.

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CHROMOSOMES AND CHROMOSOMAL MUTATIONS

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  1. CHROMOSOMES AND CHROMOSOMAL MUTATIONS HOW DO THEY AFFECT YOU??

  2. WHAT DO THEY LOOK LIKE?

  3. I. The Human Genome • A. Our complete set of instructions, organized as genes and carried on the chromosomes. • B. Completed in April, 2003

  4. II. Genetic Disorders • A. a disease caused in whole or in part by a "variation" or "mutation" of a gene

  5. Genetic Disorders (cont.) • B. Single gene disorderscaused by a mistake in a single gene. • C. Chromosome disorderscaused by an excess or deficiency of the genes • D. Most are “multifactorial inheritance disorders," caused by small variations in genes, often combined with environmental factors.

  6. III. • A. Gene tests – DNA sample is taken and examined for an abnormality. • B. Biochemical tests – looks for presence or absence of key proteins.

  7. IV. Reasons for Testing • A. Predictive • B. Carrier • C. Prenatal • D. Newborn screening

  8. V. Karyotype • A. A picture showing the number, size and shape of the chromosomes. • B. Can show chromosome abnormalities.

  9. This karyotype of a human male shows the 23 pairs of chromosomes that are typically present.

  10. Down syndrome is often called Trisomy 21 because people with this condition have three copies of their 21st chromosome.

  11. This karyotype is indicative of Klinefelter’s syndrome because it has two X chromosomes AND one Y.

  12. VI. SKY (spectral karyotyping) • A. Colors each chromosome. • B. Can show translocations (a piece breaks off and attaches to a different chromosome)

  13. SKY

  14. IN CONCLUSION… • CHROMOSOMES MAKE YOU WHO YOU ARE!! • EVERYONE IS UNIQUE BECAUSE OF THEIR CHROMOSOMAL MAKEUP • MAKING A HUMAN BEING IS A VERY DELICATE PROCESS- JUST ONE SMALL CHANGE CAN CHANGE EVERYTHING!

  15. www.biology.arizona.edu/Human_Bio/activities/karyotyping/karyotyping.htmlwww.biology.arizona.edu/Human_Bio/activities/karyotyping/karyotyping.html

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