Common Genetic Diseases

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Overview of Common Genetic Diseases

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2. CYSTIC FIBROSIS 3. SICKLE CELL ANEMIA 4. PHENYLKETONURIA 5. GALACTOSEMIA 6. WILSONS DISEASE 7. ALBINISM 8. HEMOPHILIA 9. MUSCULAR DYSTROPHY 10. NIEMANN-PICK DISEASE 11. GAUCHERS DISEASE 12. TAY-SACHS DISEASE 13. FARBERS DISEASE 14. LOU GEHRIGS DISEASE 15. CLASSIFICATION OF GENETIC DISEASE

  • Chromosomal disorders
  • Monogenic disorders
  • Multifunctional disorders

16. TREATMENT OF GENETIC DISEASES

  • Correct the metabolic consequences of the disease by supplying the missing product.
  • Replace the missing enzyme or hormone.
  • Remove excess stored substance.
  • Correct the Major genetic Abnormality.

17. RECOMBINANT DNA (Gene Splicing) Recombinant DNA is the general name for taking a piece of one DNA, and combining it with another strand of DNA. By combining two ormore different strands of DNA, scientists are able to create a new strand of DNA. The most common recombinant process involves combining the DNA of two different organisms. 18. GENETIC MARKERS One of the newer topics of cancer research is genetic markers, defects in one part of a chromosomes that it is believed can cause a certain disease.A genetic marker for Alzheimers disease has been found on chromosome 21, the same chromosome that is associated with Downs Syndrome. Since a chromosomes can include many, many genes, much work is yet to be done in this area. 19. ONCOGENES

  • Oncogenes are the genes that appear to triggeruncontrolled, cancerous growth. Cancerous cells exhibit three general characteristics:
  • UNCONTROLLED GROWTH
  • INVASION OF BODIE TISSUES
  • SPREAD TO OTHER BODY PARTS

20. DNA FINGERPRINTING DNAfingerprintingis a way of identifying a specific individual, rather than simply identifying a species or some particular trait. It is also known as geneticfingerprintingorDNA profiling. 21. DNAfingerprintingis very attractive because it doesn't require actual fingerprints, which may or may not be left behind, and may or may not be obscured. Because all of theDNAsections are contained in every cell, any piece of a person's body, from a strand of hair to a skin follicle to a drop of blood, may be used to identify them usingDNAfingerprinting. 22. This is useful in the case of identifying a criminal, because even a drop of blood or skin left at thecrime scenemay be enough to establish innocence or guilt, and it is virtually impossible to remove all physical trace of one's presence. DNAfingerprintingis useful in the case of identifying victims because even in cases where the body may be disfigured past identification, and teeth or other identifying features may be destroyed, all it takes is a single cell for positive identification.