Human Crom

1.  What are the three main parts of a chromosome, as viewed under a microscope? The three main visible parts of the chromosome in the microscope are 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 are capable of many diseases. The four most commonly seen diseases include Menkes Syndrome, Alport Syndrome, Duchenne muscular dystrophy, and Adrenoleukodystrophy. The picture below shows the parts and peices to a human chromosome.

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 things such as how chromosomes are capable of having many diseases. In the Alport Syndrome, the different chromosomes are two recessive traits.

4.      What disease did you choose and what gene is/genes are associated with this disease? The genetic trait that I chose was deafness. The reason for me choosing this disease is the fact that these people never hear one sound all their life! The website listed is a good site to explain how the trait is passed down.

5. On what chromosome are these genes/is this gene located? the answer I found to this stated "
mutation in COL11A2 (DFNA13) (Leenheer et al, 2001). COL11A2 encodes a chain of type XI collagen."

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? The only symptom is loss of hearing, that is what the disease is.
3. What lab findings (gene function or biochemical data) are associated with the disease? One thing found in the lab is autosomal recessive disorders require a gene from both the mother and father.
4. What type of inheritance governs this disease? There are four different types of inheritances: Autosomal Dominant Inheritance, Autosomal Recessive Inheritance, X-linked Inheritance,  and Mitochondrial Inheritance  

chart on in sickness and in health

   This is a project that we created based on facts from two families.  This is a chart to show how the disease traveled through the family tree.

1.What would a pedigree of Greg and Olga’s families look like?

They are shown above.  There are differences in the charts that you see, such as different diseases but as you see in both charts, the diseases skip generations.

2. Do autosomal dominant disorders skip generations? It is possible if there is a recessive trait but it the traits are domanate it will not skip.

3. Could Greg or his mother be carriers of the gene that causes myotonic dystrophy? It is not possible because the gene is domanite and it would show up on them to.

4.Is there a possibility that Greg’s aunt or uncle is homozygous for the myotonic dystrophy (MD) gene? It isn't possible because the other two sibblings don't have the disease.

5.What is the possibility that Greg and Olga’s children could inherit the MD gene? No since Greg’s mom and Greg did not have the gene and Olga didn't show signs of it there is no way there kids could develope this gene.

6.What are the hallmarks of an autosomal recessive trait? The characteristics of autosomal traits are that they skip generations and are present when there are no other dominate traits to take it over or two parents withe recessive genes have a child.

7.What does consanguineous mean? Why is this concept especially important when discussing recessive genetic disorders?  The dictionary deffanition is "Relating to or denoting people descended from the same ancestor". This is so important because it can show us what diseases come through our families.  Many genes can be traced through a family tree.

8.What is it about the inheritance pattern of factor VIII deficiency seen in Greg and Olga’s pedigree that point toward it not being an autosomal recessive trait? Since factor VIII is not in all the families and siblings it shows it being autosomal recessive trait. It is not an autosomal trait because thechance of boys and girls getting factor VIII or Hemophilia is not equal.