Genetics of Pulmonary Diseases

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Genetics of Pulmonary Diseases

• ???
• zhangxianning_at_zju.edu.cn
• Tel[phone] 88208367
• Office A709, Research Building
• 2011/03

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Learning Objectives

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• 2. ???????????????

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Required Reading

• Thompson Thompson Genetics in Medicine, 7th Ed
  (???,2009)
• ? P273-274
• ? P280-284?

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Runge MS, et al. Principles of molecular
medicine. 2nd ed. Humana Press, 2006
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COPD

• Chronic obstructive lung disease (COPD or
  emphysema) is the 4th leading cause of mortality
  and affects more than 16 million people in the
  US, a number that has increased about 40 since
  1982.

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Pulmonary Emphysema----a1-AT deficiency

• In white populations, a1-AT deficiency affects
  about 1 in 5000 persons, and 2 are carriers.
• a1-AT deficiency is an important AR condition
  associated with a substantial risk of COPD and
  cirrhosis of the liver.

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?1-AT deficiency

• ? a1-AT belongs to a major family of protease
  inhibitors, the serine protease inhibitors or
  serpins.
• ? a1-AT