Medical Applications

the identification of human genes whose mutation plays a role in genetic diseases

The discoveries lead to:-ways to diagnose conditions

- ways to treat conditions- ways to prevent conditions

- understanding of some “non-genetic” diseases

Examples of Uses

Diagnosis of diseasesExamples:

1. Breast Cancer Identification2. Genetic Screening during pregnancy

Human Gene TherapyExamples:

1. Immunodeficiency (SCID)

2. Blindness

BRCAHuman gene that suppresses tumor growth

Mutation creates high breast cancer risk

BRCA1 (chromosome 17) and BRCA2 (chromosome 13)

When testing, PCR primers are used

Di-nucleotide deletion (185delAG) and a single nucleotide insertion

(5832insC)

Works Cited

Slide 1 and Slide 2 Neil A.Campbell - Jane B.Reece - Lisa Andrea.Urry - Michael L.Cain - Steven

Alexander.Wasserman - Peter V.Minorsky - Robert BradleyJackson - Pearson, Benjamin Cummings - 2008

Slide 3 http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA http://www.wisegeek.com/what-is-the-brca-gene.htm http://www.clinchem.org/cgi/content/full/43/1/6

Slide 5 http://www.sciencedaily.com/releases/2010/11/101118124206.htm

Gene Therapy: Anti-Tumor Gene

Indiana University School of Medicine

Introduced to mice with metastatic melanoma

Results in permanent immune reconfiguration

Produces complete remission

What Would You Do?

Would you personally have your child screened to be notified possible genetic disorders?

How much testing is allowed and where do you think the line

should be drawn?