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In order to maintain proper levels of Alpha-1 Antitrypsin, an individual must receive two M (normal) genes from each parent. While an estimated 20 million people carry the recessive defective A1AT gene, only people who have two copies of this autosomal gene will be affected. The disease mostly affects Caucasians, with an estimated 1 in 2500 individuals diagnosed ...
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The disease mostly affects Caucasians, with an estimated 1 in 2500 individuals diagnosed . MM genes, shown in 95% of Caucasians, are considered a normal phenotype. On the other hand, 95% of deficiency alleles in the general population have either S or Z. S allele less destructive and is associated with the milder lung diseases, where the Z allele is with severe liver and lung disease...
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