A 35-year-old nonsmoking male has been diagnosed with emphysema. His father died of emphysema at age 30, but he smoked. His father also had cirrhosis and recurrent pancreatitis but did not drink alcohol. Which one of the following inheritance patterns typifies this disease process?
a-1 Antitrypsin (A1AT) deficiency is a codominant process. Codominance means that multiple versions of the gene may be active or expressed, and the genetic trait is caused by the effects of both the expressed alleles. The SERPINA1 gene on chromosome 14 codes for A1AT, which is a protein that protects tissues (especially the lungs) from neutrophil elastase. A1AT is synthesized in the liver and secreted into the circulation. Under normal conditions, neutrophils in the lung engulf and destroy particulate matter in the air we breathe. At times, the protease elastase escapes from the neutrophils, and is inactivated by A1AT. In the absence of functional A1AT, the elastase destroys the lung cells, and chronic obstructive pulmonary disease will occur very early in life. If the patient smokes, the condition is greatly exacerbated. A common mutation in A1AT leads to misfolding and accumulation of the misfolded form of the protein in the liver. The accumulation of this inactive, misfolded protein can lead to cirrhosis of the liver and eventually liver failure.
Autosomal dominant
Incomplete dominance
Codominant
Autosomal recessive
Molecular Genetics