14-3: Human Molecular Genetics Objectives: What is the goal of the Human Genome Project? What is gene therapy?

Human DNA Analysis Biologists search the volumes of the human genome using sequences of DNA bases.

Testing for Alleles Variety of genetic tests Use labeled DNA probes Detect the complementary base sequences found in disease-causing alleles Search for changes in restriction enzyme cutting sites Detect differences between the lengths of normal and abnormal alleles

Testing for Alleles cont’d DNA testing can pinpoint the exact genetic basis of a disorder Possible to develop more effective treatment for individuals affected by genetic disease

DNA Fingerprinting All DNA is different except for identical twins DNA fingerprinting: analyzes sections of DNA that have little or no known function but vary widely from one individual to another

DNA Fingerprinting cont’d How DNA fingerprinting works A small sample of human DNA is cut with a restriction enzyme Fragments are separated by size Using gel electrophoresis Fragments are detected with a DNA probe Revealing several DNA bands of various sizes DNA Fingerprinting cont’d

DNA Fingerprinting cont’d DNA samples can be obtained from Blood Sperm Hair strands with tissue at the base

DNA Fingerprinting cont’d Has been used in the USA since the late 1980’s Has helped Convict criminals Overturn many convictions https://www.youtube.com/watch?v= XXQP_67B5yw

The Human Genome Project 1990: Scientists in USA and other countries began the Human Genome Project The Human Genome Project is an ongoing effort to analyze the human DNA sequence June 2000: Scientists announced that a working copy of the human genome was essentially complete

Rapid Sequencing Determine the sequence of bases in widely separated regions of DNA Used as markers Made it possible to locate and return to specific locations in the genome

Rapid Sequencing cont’d “Shotgun sequencing”: cutting DNA into random fragments and then determining the sequence of bases in each fragment Computers Found areas of overlap between the fragments Put the fragments together by linking the overlapping areas Aligned the fragments relative to the known markers on each chromosome

Searching for Genes Only a small part of a human DNA molecule is made up of genes. Continue to search for genes in many ways Research groups around the world Analyzing the huge amount of information in the DNA sequence Looking for genes that may provide useful clues to some of the basic properties of life

A Breakthrough for Everyone You can watch/read about the latest genome data on the internet.

Gene Therapy Gene therapy: the process of changing the gene that causes a genetic disorder In gene therapy, an absent or faulty gene is replaced by a normal, working gene. The body can make the correct protein or enzyme it needs http://www.smithsonianmag.com/science-nature/gene-therapy-in-a-new-light- 130742057/?no-ist

Exit Ticket Answer the following questions. Use complete sentences. You may NOT use your book. You MAY use your notes. This is a quiz grade. What is the goal of the Human Genome Project? What is gene therapy?