
Alpha-1 Antitrypsin Deficiency is passed on from parents to their children through genes
For the most part, for each
The result of having two defective genes for Alpha-1 is a very low or even absent level of a protein called alpha-1
An Alpha-1 CarrierAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. More is a person who has one normal AATalpha-1 antitrypsin More gene (M) and one defective AATalpha-1 antitrypsin More gene (usually S or Z). Being a carrierAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. More is very common. It is believed that over 20 million people in the U.S are carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. More. CarriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. More (MZ or MS) may pass their defective AATalpha-1 antitrypsin More gene (S or Z) to their children. CarriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. More have lower blood levels of AATalpha-1 antitrypsin More protein, but their levels are rarely as low as people with Alpha-1.
The gene for α1-AT is located on chromosome 14, and mutations at the protease inhibitor (PI) locus lead to a single amino acid substitution (glutamic acid for lysine 342) that impairs secretion of the mutant gene product, leading to retention of α1-AT in the hepatocyte and low levels of α1-AT in the serum. Because the phenotype is expressed by autosomal codominant
Alpha1-Antitrypsin Deficiency – Cleveland Clinic"Individuals receive one version of a gene, called an allele, from each parent. If the alleles are different, the dominant allele usually will be expressed, while the effect of the other allele, called recessive, is masked. In codominance, ... More inheritance, each allele is responsible for 50% of the circulating α1-AT level. Approximately 100 allelic variants have been described, only some of which are associated with liver disease.
Resources
- Alpha-1 Genetic Counseling Program – Alpha-1 Foundation
- Novel Alpha-1 Antitrypsin Alleles and Alpha-1-Antitrypsin Deficiency Detection – Dr. Mark Brantly, 28th Annual Alpha-1 National Conference, June 2019