Identification of a novel alpha1-antitrypsin null variant (Q0Cairo)

Diagnostic Molecular Pathology

Volumn 14, Issue 2, 2005, Pages 121-124

  Zorzetto, Michele ^a   Ferrarotti, Ilaria ^a   Campo, Ilaria ^a   Balestrino, Antonella ^b   Nava, Stefano ^b   Gorrini, Marina ^a   Scabini, Roberta ^a   Mazzola, Paola ^a   Luisetti, Maurizio ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b IRCCS   (Italy)

Author keywords

AATD; Genotyping; Rare variant

Indexed keywords

ALPHA 1 ANTITRYPSIN;

ADOLESCENT; AGED; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; BLOOD LEVEL; CASE REPORT; CHRONIC LIVER DISEASE; EXON; FAMILY; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HUMAN; ISOELECTRIC FOCUSING; LIVER CIRRHOSIS; LUNG EMPHYSEMA; MALE; NUCLEOTIDE SEQUENCE; NULL ALLELE; PRIORITY JOURNAL; STOP CODON; ALLELE; AMINO ACID SEQUENCE; GENETICS; MOLECULAR GENETICS; MUTATION;

ADOLESCENT; ALLELES; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; AMINO ACID SEQUENCE; BASE SEQUENCE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 19544393372     PISSN: 10529551     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.pas.0000155023.74859.d6     Document Type: Article

References (17)

1. Billingsley GD, Walter MA, Hammond GL, et al. Physical mapping of four serpin genes: alpha 1-antitrypsin, alpha 1-antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280-kb region on chromosome I4q32.1. Am J Hum Genet. 1993;52:343-353.
2. Crystal RG, Brantly ML, Hubbard RC, et al. The alpha 1-antitrypsin gene and its mutations. Clinical consequences andstrategies for therapy, Chest. 1989;95:196-208.
3. Brantly ML, Wittes JT, Vogelmeier CF, et al. Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes. Chest. 1991;100:703-708.
4. De Serres FJ. Worldwide racial and ethnic distribution of alpha 1-antitrypsin deficiency: Summary of an analysis of published genetic epidemiologic surveys. Chest. 2002;122:1818-1829.
5. Perlmutter DH. Liver disease associated with alpha 1-antitrypsin deficiency. Prog Liver Dis. 1993;11:139-165.
6. Lee JH, Brantly M. Molecular mechanisms of alpha 1-antitrypsin null alleles. Respir Meet. 2000;94(Suppl C):S7-11.
7. McElvaney NG, Stoller JK, Buist AS, et al. Baseline characteristics of enrollees in the national heart, lung and blood institute registry of α1-antitrypsin deficency. Chest. 1997;111:394-403.
8. De Serres FJ, Blanco I, Fernandez-Bustillo E. Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain. Clin Genet. 2003;63:490-509.
9. Luisetti M, Massi G, Massobrio M, et al. A national program for detection of α1-antitrypsin deficecy in Italy. Respir Med. 1999;93:169-172.
10. American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003;168:818-900.
11. Ferrarotti I, Zorzetto M, Scabini R, et al. A novel method for rapid genotypic identification of alphal-antitrypsin. Diagn Mol Pathol. 2004;13:160-163.
12. Brantly M. Laboratory diagnosis of αlAT deficiency. In: Crystal RG. eds. Alpha 1-Antitrypsin Deficency. New York, NY: Marcel Dekker Inc.; 1996:211-226.
13. Luisetti M, Seersholm N. Epidemiology of Alpha 1-antitrypsin deficiency. Thorax. 2004;59:164-169.
14. Sandford AJ, Weir TD, Spinelli JJ, et al. Z and S mutations of the alpha1-antitrypsin gene and the risk of chronic obstructive pulmonary disease. Am J Respir Cell Mol Biol. 1999;20:287-291.
15. 1-antitrypsin deficiency. J Med Genet. 2005;42:282-287.
16. Blanco I, Bustillo EF, Rodriguez MC. Distribution of a 1-antitrypsin PI S and PI Z frequecies in countries outside Europe: A meta-analysis. Clin Genet. 2001;60:431-441.
17. Hayes VM. Genetic diversity of the alpha-1-antitrypsin gene in africans identified using a novel genotyping assay. Hum Mutat. 2003;22:59-66.