2.2.6

Research familial hypercholesterolemia and note the pattern of inheritance as well as which chromosome is impacted.

Familial hypercholesterolemia is a defect on chromosome 19. It is inherited as an autosomal dominant trait, which means that you only need to get the abnormal gene from one parent to inherit the condition.

Write a paragraph or two that explains to Aki, in simple terms, what FH is and how it might affect members of his family who have the FH gene. Include average cholesterol levels for individuals with the FH gene and discuss the dangers of high cholesterol.

Familial hypercholesterolemia is a diagnosis which refers to people with very elevated low-density lipoprotein (LDL) cholesterol or "bad cholesterol". People with homozygous FH have total cholesterol levels in the 650-1,000 mg/dL range. High cholesterol can be dangerous because it can increase your risk of heart disease. FH is inherited from one or both of your parents, so anyone who have the FH gene in the family can pass it on to their kids. It causes some problems such as increased risk of early onset of coronary artery disease. However, since we caught it and can treat it you will be fine. Since you have receive a correct diagnosis and will start medication, you will have a great outlook and life expectancy.

Would you want to have your DNA sequenced and find out about your genetic health? What if the test only told you whether or not you might be likely to develop certain medical conditions? Explain the pros and cons of knowing this information

I think that I would like to have my DNA sequenced because I like to be in the know so that I can prepare. I would still like to know whether I might be likely to develop certain medical conditions for the same reasons. The pros of knowing this information is that you could be in the know and be prepared. However, cons are that you might spend unnecessary rime worrying about your health when the condition might not even effect you in the future.

Explain how the use of Restriction Fragment Length Polymorphisms to diagnosis genetic disease differs from its use in forensic investigations.

Restriction fragment length polymorphisms is used for diagnosis of genetic disease in families by representing the inheritance of chromosomal markers in a family. For some genetic disorders, a restriction enzyme can be used that will cut only either the diseased sequence or healthy sequence. The resulting DNA fragments can be visualized and analyzed through gel electrophoresis. On the other hand, in forensic investigations, it is used by comparing the scenes DNA to DNA of suspects, and the results can be admitted as physical evidence in an investigation.