At every family conference, researchers from the Chromosome 18 Clinical Research Center spend hours coordinating blood draws and collecting samples from people with chromosome 18 conditions and their parents. After the blood sample is obtained, the family can go back to the conference and enjoy the meetings and socialization opportunities. However, the blood sample's journey has just begun! The tubes of blood first take a trip to The University of Texas Health Science Center at San Antonio, where research associate, Patty Heard (pictured) welcomes them and gets right to work.
Patty starts with the green top tubes. These tubes contain heparin, a chemical that prevents the blood from clotting. The blood cells in these tubes are processed in a special way so that the chromosomes can be visualized under a microscope. These cells can be used in certain types of experiments that visualize how the chromosomes are arranged and if large pieces are missing or duplicated.
Next, using blood from the yellow top tubes, Patty extracts DNA from the cells. DNA is the chemical molecule that makes up the chromosomes. The DNA extracted from these cells can then be used to do a microarray analysis. This kind of test can give us much more precise information about the specific location of the breakpoint of a chromosome change.
Lastly, another yellow top tube is used to isolate the white blood cells and create an immortal cell line. Once a sufficient number of cells have been grown up, they are frozen for long-term storage in liquid nitrogen. They can be thawed and regrown at any time. That means that, if we need more DNA for future experiments, we can go back to the cell line and extract i
t. In this way, we guarantee that the valuable contribution from the families in our studies can be used for years to come.
If you are considering becoming a part of the important research at the Chromosome 18 Clinical Research Center, please contact Annice Hill at [email protected] to discuss the enrollment procedure.
