复旦大学：《医学遗传学 Medical Genetics》课程教学资源（PPT课件讲稿）11 单基因病（A）Single Gene Disorder（A）

Medical Genetics 10单基因遗传病(A) Single gene disorder (a)

Medical Genetics 10 单基因遗传病（A） Single Gene Disorder (A)

Medical Genetics Some disorders result when a mutation causes the product of a single gene to be altered or missing These disorders are called Singl Gene disorder

Medical Genetics Some disorders result when a mutation causes the product of a single gene to be altered or missing. These disorders are called Single Gene Disorder

Medical Genetics Form the view of pathogenesis, single gene disorders are divided into 2 groups. 1。 molecular disease 2. inborn errors of metabolism

Medical Genetics Form the view of pathogenesis, single gene disorders are divided into 2 groups: 1. molecular disease 2. inborn errors of metabolism

Medical Genetics 1. molecular disease Toward the end of world war ii Vannevar bush, the head of the u. s Office of scientific research and Development, contacted Pauling Bush was seeking to restructure the way in which scientific research was conducted and funded in the united States

Medical Genetics 1. molecular disease Toward the end of World War II, Vannevar Bush, the head of the U.S. Office of Scientific Research and Development, contacted Pauling. Bush was seeking to restructure the way in which scientific research was conducted and funded in the United States

Medical Genetics Pauling was the only non physician on Bush's medical research committee--a nod to his growing reputation outside of mainstream chemistry

Medical Genetics Pauling was the only non￾physician on Bush's medical research committee--a nod to his growing reputation outside of mainstream chemistry

Medical Genetics From his previous work with blood he knew that red blood cells were little more than bags filled with hemoglobin the molecule that carried oxygen from the lungs to the body

Medical Genetics From his previous work with blood, he knew that red blood cells were little more than bags filled with hemoglobin, the molecule that carried oxygen from the lungs to the body

Medical Genetics If the sickled cells had changed shape, perhaps it was because the hemoglobin had been altered in some way, making it clump and stick to one another, as antigens stick to antibodies. Pauling had already shown that hemoglobin changed shape slightly when it was oxygenated

Medical Genetics If the sickled cells had changed shape, perhaps it was because the hemoglobin had been altered in some way, making it clump and stick to one another, as antigens stick to antibodies. Pauling had already shown that hemoglobin changed shape slightly when it was oxygenated

Medical Genetics In the fall of 1946, Pauling presented his ideas as a research problem to Harvey itano, a young physician who was then working on a Ph. D. in his laboratory. Itano, worked for a year trying to see if sickle-cell hemoglobin was shaped differently from normal hemoglobin

Medical Genetics In the fall of 1946, Pauling presented his ideas as a research problem to Harvey Itano, a young physician who was then working on a Ph.D. in his laboratory. Itano,worked for a year trying to see if sickle-cell hemoglobin was shaped differently from normal hemoglobin

Medical Genetics In 1949, using an exquisitely sensitive new technique called electrophoresis that separated molecules by their electric charge, they found their answer: sickle-cell hemoglobin carried more positive electric charges on its surface

Medical Genetics In 1949, using an exquisitely sensitive new technique called electrophoresis that separated molecules by their electric charge, they found their answer: sickle-cell hemoglobin carried more positive electric charges on its surface

Medical Genetics This was an astounding discovery. a slight change in the electrical charge of a single type of molecule in the body could spell the difference between life and death This discovery--to which Pauling attached the memora ble title " molecular disease --received widespread attention

Medical Genetics This was an astounding discovery. A slight change in the electrical charge of a single type of molecule in the body could spell the difference between life and death. This discovery--to which Pauling attached the memorable title "molecular disease"--received widespread attention