Genes


Our gene expressions are what make us individuals and what make us share familial traits.  Blood diseases, like thalassemia for example,  are determined by a gene, HBA1, on the long arm of our 16th chromosome, spanning 872 nucleotides.  Being able to screen parents to see whether they are carriers of the recessive gene will allow us to make decisions that our parents, grandparents,  great grandparents, … never were able to make.

Genetic diseases, like the ones mentioned in the GATTACA movie we saw  (worksheet), are also located in specific places on our karyotype.  For example,  I have hemochromatosis, just like my father and his brother.  Mutations in the HAMP, HFE, HFE2, SLC40A1, and TFR2 genes cause hereditary hemochromatosis.

Complete one genetic disorder worksheet, using the Genetics Home Reference website, the OMIM reference number and GeneCards (Expression) to complete the worksheet.

Genetic Research Worksheets:

Two students cannot research the same genetic disease.  Tell the professor which one you want to research to reserve it for yourself.  Breast cancer and diabetes are not researchable.

Example:

Genetic Disease: Hemochromatosis

Symptoms/Conditions: Iron accumulates in the tissues, it can cause heart disease, fatigue, joint pain, abdominal pain, and loss of sex drive.  Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration.

Gene #1: hepcidin antimicrobial peptide

Gene Symbol: HAMP

Chromosome #: 19

Cytogenetic Location: 19q13.12

Start Base Pair: 35,282,346

End Base Pair: 35,285,143

Normal Function:  It produces a protein called hepcidin.  It maintains iron balance in the body.

Gene #2: hemochromatosis

Gene Symbol: HFE

Chromosome #: 6

Cytogenetic Location: 6p22.2

Start Base Pair: 26,087,281

End Base Pair: 26,096,216

Normal Function: The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body.

News Article #1: FDA Sued for Failure to Regulate Deadly Bacteria in Raw Oysters
https://cspinet.org/news/fda-sued-failure-regulate-deadly-bacteria-raw-oysters-20160526

News Article #2: Ancient Irish DNA indicates mass migration from Middle East
http://www.sbs.com.au/news/article/2015/12/29/ancient-irish-dna-indicates-mass-migration-middle-east

News Article #3: Rare Condition Means Another Dry St. Patrick’s Day
http://abcnews.go.com/Health/celtic-curse-hemochromatosis-means-dry-st-patricks-day/story?id=15934834

Here’s how the info fits on the research page–> sample research