MVarallo: a new M(Like) alpha 1-antitrypsin-deficient allele

Diagn Mol Pathol. 2003 Dec;12(4):237-9. doi: 10.1097/00019606-200312000-00008.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles
  • Base Sequence
  • DNA / analysis
  • DNA / genetics
  • Female
  • Forced Expiratory Volume
  • Genetic Variation*
  • Heterozygote
  • Humans
  • Isoelectric Focusing
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Pulmonary Disease, Chronic Obstructive / blood
  • Pulmonary Disease, Chronic Obstructive / genetics*
  • Pulmonary Disease, Chronic Obstructive / physiopathology
  • Trypsin Inhibitors / analysis
  • Trypsin Inhibitors / genetics*
  • alpha 1-Antitrypsin / analysis
  • alpha 1-Antitrypsin / genetics*

Substances

  • Trypsin Inhibitors
  • alpha 1-Antitrypsin
  • DNA