Advances in Human Genetics 11 by Magne K. Fagerhol, Diane Wilson Cox (auth.), Harry Harris,

By Magne K. Fagerhol, Diane Wilson Cox (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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5% had abnormalities suggestive of liver disease. The prognosis for this group of children was originally thought to be poor, with progressive cirrhosis leading to early death. , 1976). It should be kept in mind, for purposes of genetic counseling, that the risk for two Pi MZ parents to have a child of Pi type Chapter 1 : The Pi Polymorphism 37 ZZ with severe liver disease is relatively small, in the order of 1-2%. The assumption is made, as yet with inadequate data, that the risk for developing liver disease does not vary widely between families.

However, results from these previous experiments might have alternative explanations: studies on the amino acid sequence of an undecapeptide with the active site indicate that the active site includes a methionine (Johnson and Travis, 1978). AT, the trypsin-binding site of the lima bean inhibitor, and the elastase-binding site of the garden bean inhibitor. They also found an ambiguity adjacent to the methionyl residue in that some peptides had methionyl-seryl and others methionyl-threonyl bonds.

AT can be inactivated by various types of oxidants including those present in tobacco smoke. A similar inactivation occurs when potent oxidants (probably 'OH) are released from neutrophils during phagocytosis of antigen-antibody complexes (Carp and Janoff, 1979). , 1979). The question of the structure and number of active sites on the cx. AT molecule is not yet settled. James and Cohen (1978) have suggested that 26 Magne K. Fagerhol and Diane Wilson Cox N H 2-G LX - - M ET - ~ ~ ~ t -I; - T H R - LEU - L Y 5 - - - L YS -eOOH t Fig 6.

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