Human Chromosomes Webquest

1. What are the three main parts of a chromosome, as viewed under a microscope? The three main and visible parts of the chromosome in the microscope is the long arm, the short arm and the centromere which is the middle of the chromosome.


2. List at least four human diseases that have been mapped to the X chromosome. The X chromosome can actually have a lot of diseases. The four most common types of  mapped diseases include Menkes Syndrome, Alport  Syndrome, Duchenne muscular dystrophy, and Adrenoleukodystrophy. The picture below is a human chromosome so you as the reader can get a visual understanding.

3. When looking at the summary on genes show the  functions, processes, and components it is thought to be involved in (what’s it do?). Looking at the information on genes, you can see different problems such as how chromosomes are able to carry different diseases. In the Alport Syndrome, different chromosomes are two recessive traits the chromosomes carry to the disease.

4. What disease did you choose and what gene is/genes are associated with this disease? The trait passed down that I picked was deafness. I picked this because I'm fascinated by the fact that people can adapt to not hearing a thing their whole life! I looked at a few websites to understand why people become deaf if it is a problem in the womb or a genetic problem. I read that is in fact a genetic problem.

5. On what chromosome are these genes/is this gene located? I looked on the websites and other websites on google and I could not find the certain chromosome this gene was located at or linked to. 

Questions on clinical synopsis in the OMIM entry:

1. When was the disease first reported in the scientific literature? This was first reported in 1992.
2. What are some of the clinical symptoms of this disease? I don't know if being deaf is a symptom considering this is the disease itself and no side effects or other symptoms (hearing loss)
3. What lab findings (gene function or biochemical data) are associated with the disease?  I only found one known function associated with this disease. This function was called the "gap junction". The gap junctions are formed by humans.
4. What type of inheritance governs this disease?  There are four different types of inheritance: Autosomal Dominant Inheritance, Autosomal Recessive Inheritance, X-linked Inheritance,  and Mitochondrial Inheritance

Below are the main sources I used to find the necessary information to perform this lab:

1. http://www.deafchildworldwide.info/childhood_deafness/causes_of.html

2. http://www.mydeafness.com/how-do-you-become-deaf/

3. http://www.pbs.org/wnet/soundandfury/culture/deafhistory.html