MVarallo: a new M(Like) alpha 1-antitrypsin-deficient allele.
A 73-year-old never-smoker woman with chronic bronchitis, increasing dyspnoea, and airflow limitation with a FEV1 of 49% of predicted value had low serum level of alpha-1-antitrypsin (69 mg/dL, normal range 150-350). Isoelectric focusing showed an Mlike pattern. Direct sequencing showed, in the second exon, a particular DNA alteration localized between codon 41 and codon 51: a region of 30 base pairs (bp) was completely deleted and substituted by a 22-bp sequence. The resulting loss of 8 bp yields, in the second exon, a 70-71 stop codon. This new Mlike variant was denominated MVarallo from the site where it was discovered.
Coni
Pierpaolo
P
Sardinian Regional Center of Alpha 1 Antitripsin Deficiency, Department of Cytomorfology, Division of Pathology, University of Cagliari, Italy.
Pili
Elisabetta
E
Convertino
Giuseppe
G
Pichiri
Giuseppina
G
Balestrino
Antonella
A
Delmastro
Monica
M
Donner
Claudio F
CF
Faa
Gavino
G
Balbi
Bruno
B
D000368:Aged; D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000032:analysis / Q000235:genetics; D005260:Female; D005541:Forced Expiratory Volume; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D007525:Isoelectric Focusing; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D029424:Pulmonary Disease, Chronic Obstructive / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D014361:Trypsin Inhibitors / Q000032:analysis / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000032:analysis / Q000235:genetics*
D014361:Trypsin Inhibitors; D000515:alpha 1-Antitrypsin; D004247:DNA