The Human Genome Project & Pedigrees

Chapter 11 & 12

The Human Genome Project

• project is the mapping of genes of humans• figuring out what certain nucleotide sequences control or

are responsible for creating

• mission:• identify the full SET of genetic instructions that are

contained in our cells• to know what every sequence of nucleotides controls

• genome = all genes that make up a “blueprint” for creating a human

What can be learned by doing the HGP?

• provide new strategies to possibly diagnose, treat, and prevent human diseases • identifying when gene mutations occur and what they changed• scientists can determine whether environmental factors take a part in certain diseases or if the disease just depends on the genes• once a gene is located, the protein it creates can be identified and then study to see what it does in/ for the body• treat genetic diseases by fixing or replacing the gene or replacing bad protein with the correct protein

• most of our genes are NOT our own. In fact, only about 2% of the human genome seems to be made up of sequences that code for proteins or RNA. • What about the remaining 98% of it? • Well, fully half of it consists of highly repeated DNA sequences

• Guess where these sequences come from?• Ultimately, most of them come from viruses. In fact, there are so

many copies of viral genes scattered around our DNA that the single most common protein sequence in our genome is the "recipe" for making Reverse Transcriptase. • Reverse Transcriptase is an enzyme used by retroviruses to

copy their genes into our own DNA. In a sense, you could say that most of our DNA actually comes from viruses. That might not be pleasant to think of, but it seems to be the case.

http://www.millerandlevine.com/genome/nine.html

What are some issues with that knowledge?

• Some feel that the project requires too much money to try to figure everything out when we only use 2% of our DNA

• identifying the disease before there are treatments for the disease

• being able to manipulate genetic material

Genetic Screening• looks at genes• used to determine whether a couple is at an increased risk of having a baby with a disorder (genetic disease)

How is this shown?a Pedigree

How to read a pedigree

children/siblings

married