Saturday, March 8, 2014

Human Chromosome and Genetic Diseases

Part 1

 
Understanding Chromosomes
  • Our genetics are stored into 23 pairs of chromosomes
    • they are different from one another
  • Question: What are the three main parts of a chromosome, as viewd under a microscope?
    • Chromosomes can be seperated into three different parts
      • small arm (known as P)
      • Large arm (known as Q)
      • Centromere (the part that seperated these 2 arms)
  • Chromosomes divide even farther by using special strains
    • create a banding pattern
      • unique to each chromosome
  • Cytogenetic Mapping
    • people can map chromosomes
    • mapping allows them to give specific locations of diseases on chromosomes
  • Gene found on chromosome 11p15.4
    • on chromosome 11
    • on swhort arm
    • on a band labeled 15.4
 
X Chromosome
  • Remember the x-chromosome is used in helping determine the sex of a child
    • x chromosomes also do more
  • X chromosomes contain:
    • over 1400 genes
    • 150 million base pairs
      • 95% have been determined
 
Next I was asked to search a disease we found that could be linked to the x chromosome on this database.
 
  • Alport Syndrome
    • While researching, I clicked on a map and it showed me where this gene is located on the x chromosome
      • located at Xq22
      • long arm on the band is labled 22
    • caused by problems with your collagen
 
Part 2
 
Next I was asked to pick a disease and learn about it then pick another disease that fall under the first.
  • Cancer
    • Chronic Myeloid Leukemia (CML)
 
What disease did you choose and what gene or genes are associated with this disease?
  • Couple genes are involved\
  • diagnosed by finding a specific chromosomal abnormality
    • Philadelphia chromosome
      • product of a translocation exchange of genetic
      • exchange of 2 genes on chromosome 22 and 9
      • created by gene BCR and ABL coming together
        • the combination activates signal transduction pathways
          • leads to uncontrilled cell growth
 
Questions:
  • When was the disease first reported in the scientific literature?
    • Created by John F. Jackson on June 15, 1995
  • What are some of the clinical symptoms of this disease?
    • The percent of patients diagnosed are in the chronic phase is 90%. A feature of progression is the appearance of the additional cytogentic abnormalities in Ph-positive cells (cell witha Philadelphia chromsome in them).
  • What lab findings (gene function of biochemical data) are associated with the disease?
    • They have found tyrosine kinase activity is essentail in the transforming function of the BCR-
      ABL genes. They further reasoned that an inhibitor of the kinase may be an affective treatment, and it tended to work well.
  • What ype of inheritance governs this disease?
    • In the clinical synopsis, it said that it's features were somatic mutation. There were three cases of CML that were reported where the disease was found in three successive generations.


Resources:


     


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