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Phenotype:

This is the "outward, physical manifestation" of the organism. These are the physical parts, the sum of the atoms, molecules, macromolecules, cells, structures, metabolism, energy utilization, tissues, organs, reflexes and behaviors; anything that is part of the observable structure, function or behavior of a living organism.

Genotype:

This is the "internally coded, inheritable information" carried by all living organisms. This stored information is used as a "blueprint" or set of instructions for building and maintaining a living creature. These instructions are found within almost all cells (the "internal" part), they are written in a coded language (the genetic code), they are copied at the time of cell division or reproduction and are passed from one generation to the next ("inheritable"). These instructions are intimately involved with all aspects of the life of a cell or an organism. They control everything from the formation of protein macromolecules, to the regulation of metabolism and synthesis.

Your doctor says that your phenotype is MZ which is to say that the outward observable behavior or manifestation of this Alpha-1 Antitrypsin Deficient condition. The test was run to 'see' how your blood/genetic material behaved in a standard test that shows how your alpha1 behaves on this standard test. It's alot like the suggested retail price for something or miles per gallon or kilometers per liter of gas/petrol. Some standard tests have been performed and based on those standard tests - you show to be an MZ.

http://www.alpha1.org/newlyDiag/howDiag.asp


Phenotype µM/L mg%
MM (two normal copies) 20-53 150-350
MZ (one normal copy, one deficient copy) 12-28 90-210
SS (two marginally deficient copies) 13-27 100-210
SZ (one deficient copy, one marginally deficient copy) 10-16 75-120
ZZ (two deficient copies) 2.5-7 20-45
NULL (two nonfunctional copies) 0 0


Your lab results per your email indicate that you have are Pi(M)(Z) with a level of .8g/liter. That would translate to 80mg/liter which would appear to put you on the low end of the Pi(M)(Z) spectrum. If I understand a Copenhagen 2002 study (see note below) it would appear that MZ's have their own risk of developing COPD over time. This study also points to the fact that people who are carriers share a risk of developing COPD much like that of those who are identified as being classically deficient - Pi(Z)(Z).

While the above chart doesn't flow 0 to 10, 10-20, etc with no gaps - it does give a general outline of what areas each pairing tend to run. Alpha-1 levels rise and fall naturally - usually depending on if there are active infections at the time of the blood draw.

A discussion of phenotyping can be found here: http://en.wikipedia.org/wiki/Alpha_1-antitrypsin

Just as the suggested retail price or miles per gallon tell you nothing about the insides of the thing you are buying or driving - these tests and these results don't tell you anything about that either. That is where a genotype test is needed. A geneotype will look inside the workings of the item in question - to further the car example a little it is like having your mechanic open the car up and look inside the engine compartment and look at all the engine parts, wires, gas filters, every nut and bolt and then tell you what it is - exactly what 'it' is.

This is the long way of going about suggesting that you may want to ask your GP to refer you to a genetic counselor or lung or liver specialist or at the very least, perform an alpha-1 genotyping test to get the definitive identity of your alpha1 genes and with that information in hand - you can make informed decisions about what you need to do next.

Good luck and God bless!
John Morton

- as with any medical or health related information you get from the Internet, be sure to check with your physicians before implementing or changing any part of your healthcare routine. Information from these lists is for informational purposes only.



NOTES:

http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400
Dahl et al. (2002) reported on a study in Copenhagen to determine whether the MZ intermediate alpha-1-antitrypsin deficiency affects pulmonary function and disease. They randomly selected 9,187 adults from the Danish general population and followed them over a 21-year period; 451 (4.9%) carried the MZ genotype. Plasma antitrypsin levels were 31% lower in MZ heterozygotes than in persons with the MM genotype. They found that MZ heterozygotes had a slightly greater rate of decrease in FEV1 measure of pulmonary function and were modestly overrepresented among persons with airway obstruction and chronic obstructive pulmonary disease (COPD; 606963). They estimated that in the population at large, MZ heterozygosity may account for a fraction of COPD cases (on the order of 2%), similar to the percentage of persons with COPD who have the severe but r are ZZ genotype. Because the incidence of heterozygosity is so much higher than that of homozygosity, alpha-1-antitrypsin heterozygosity is a
s important a public health problem as homozygosity.