What is MZ phenotype?

What is MZ phenotype?

MZ: If you have one M gene and one Z gene, you’ll have a lower than normal level of AAT in your blood. Usually the level isn’t low enough to cause major problems – you’ll probably have enough AAT to protect against damage. You may be more susceptible to lung disease, but if you don’t smoke, this is rarely a problem.

What is ZZ phenotype?

Your Alpha-1 genotype is ZZ. This means that you have AATD. AATD is a genetic condition that raises the risk for the development of chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment.

What is the genotype for alpha-1 antitrypsin deficiency?

Clinically significant alpha-1-antitrypsin deficiency is typically the result of homozygosity for the PI*Z allele or compound heterozygosity for the PI *S*Z alleles, although other disease-causing alleles are identified in ~5% of affected individuals.

What is alpha-1 antitrypsin phenotype is PI * MM?

The normal PI phenotype is PI*MM. More than 95% of people with severe alpha-1 antitrypsin deficiency and emphysema are homozygous for the Z allele (PI*ZZ) and have alpha-1 antitrypsin levels of about 30 to 40 mg/dL (5 to 6 micromol/L). Prevalence in the general population is 1/1500 to 1/5000.

What is Alpha-1 MZ?

People with the MZ genotype do not have severe AATD but are genetic 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.

What is pi * mz?

Homozygosity for the Pi*Z genotype of the SERPINA1 gene, or Pi*ZZ, leads to severe alpha-1 antitrypsin (AAT) deficiency, which can cause lung emphysema and liver disease. Although Pi*ZZ prevalence is rare, Pi*MZ (heterozygosity) is more common.

What does Alpha-1 MZ mean?

People with the MZ genotype do not have severe AATD but are genetic 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 of the Z mutation.

What is Z allele?

The Z-allele is the most important genetic defect in alpha-1-antitrypsin deficiency. It is a single mutation in exon 5 of the gene, leading to substitution of the amino acid glutamine (G) in position 342 in the protein for a lysine (A) amino acid.

What is MM genotype?

MM is the normal genotype. People with the MM genotype do not have alpha-1 antitrypsin deficiency, and do not have increased risks related to this condition. Alpha-1 at MUSC – Genetic Counseling.

What is the normal range for alpha-1 antitrypsin?

Most hospital laboratories report serum alpha1-antitrypsin levels in milligrams per decimeter, with a reference range of approximately 100-300 mg/dL. Levels less than 80 mg/dL suggest a significant risk for lung disease.

What does it mean if alpha-1 antitrypsin is high?

What does it mean if your Alpha-1-Antitrypsin, Serum result is too high? Alpha-1-Antitrypsin is an acute phase reactant. This means that it will be elevated in acute and chronic inflammatory conditions, infections, and with some cancers.