1. HUMAN MOLECULAR GENETICS Lecture 14-3

2. Genetic testing Genetic tests are now available for hundreds of disorders. Parents can find out if they carry defective recessive genes can be passed to their children. Mail order genetic testing, England

3. DNA fingerprinting  1. sample of DNA is cut with enzymes  2. each person has a different length of DNA between genes (repeats)  3. fragments are separated by size using gel electrophoresis  4. repeats are ‘tagged’ with radiation, then x-rayed

4.  Identifies criminals & victims of crimes since 1980s  Samples can be from blood, hair follicles, or sperm  Each person’s pattern is unique.

5. The Human Genome Project  An ongoing effort to analyze the human DNA sequence.  Computers look for genes by finding the sites (promoters) where RNA polymerase binds to DNA before making mRNA.

6. results  Only a small part of DNA holds genes  Humans: 25,000  All the information is available to anyone on the internet  Will lead to further discoveries

7. Gene therapy An absent or faulty gene is replaced by a normal, working gene Goal: to cure genetic diseases by changing the genes that cause them.. A genetically altered virus is inhaled to treat cystic fibrosis

8. Method: use a genetically altered virus to deliver the functioning gene to the cells Possible treatment for ALD, hemophilia. Still in experimental stages.

9. Ethical issues in human genetics If genes can be used to change a person, where should it stop? Should humans be designed?

10. It is the responsibility of all people to be sure that science is used wisely and ethically. Logo of the human genome project