Thursday, March 10, 2016

Human Chromosomes and Genetic Diseases

Part One:
What are the three main parts of a chromosome, as viewed under a microscope?
The three main parts of a chromosome is the p arm (short arm of chromosome) and q arm (long arm of chromosome) and the centromere (center of chromosome)

List at least four human diseases that have been mapped to the X chromosome.
Rett syndrome, Fragile x syndrome, Alport syndrome, Duchenne muscular dystrophy.


Part Two:
What disease did you choose and what gene or genes are associated with this disease?
DiGeorge syndrome
On what chromosome is this gene(s) located?
chromosome 22


  • When was the disease first reported in the scientific literature (earliest citation)?
    DiGeorge syndrome was first reported in the scientific literature by an error in recombination at meiosis.
  • What are some of the clinical symptoms of this disease?
    Some symptoms of this disease is cardiac problems, speech impediment.
  • What lab findings (gene function or biochemical data) are associated with the disease?
    causes by a large deletion in chromosome 22
  • What type of inheritance governs this disease?
    The type of inheritance that governs this disease is at birth and can vary greatly between individuals.