2. As a new graduate student in a translational genetics research lab at Emory U

Question

2. As a new graduate student in a translational genetics research lab at Emory University in Georgia, you have selected a thesis project which requires you to develop three assays for a set of newly described mutations in a gene associated with a familial drug and alcohol addiction disease. The combination test will allow the tailoring of therapy for persons susceptible to addictive behavior. A patient has only one of the mutations. The only instruments available to you are only a PCR instrument, gel electrophoresis equipment, and DNA sequencing instrument.
a. Describe, in technical detail, a method (only one for each example) you would use to identify the mutation.

i. Mutation B in the addiction gene is a large deletion of 1 kb (kilobase) found to recur in 18% of patients with the disease.

Explanation / Answer

A severe, chronic form of diabetes caused by insufficient production of insulin and resulting in abnormal metabolism of carbohydrates, fats, and proteins. The disease, which typically appears in childhood or adolescence, is characterized by increased sugar levels in the blood and urine, excessive thirst, frequent urination, acidosis, and wasting. Also called insulin-dependent diabetes, type 1 diabetes. A mild form of diabetes that typically appears first in adulthood and is exacerbated by obesity and an inactive lifestyle. This disease often has no symptoms, is usually diagnosed by tests that indicate glucose intolerance, and is treated with changes in diet and an exercise regimen. Also called non-insulin-dependent diabetes, type 2 diabetes.

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