M Varallo: A New M Like Alpha 1-Antitrypsin-Deficient Allele

Pierpaolo Coni, Elisabetta Pili, Giuseppe Convertino, Giuseppina Pichiri, Antonella Balestrino, Monica Delmastro, Claudio F. Donner, Gavino Faa, Bruno Balbi

Research output: Contribution to journalArticlepeer-review

Abstract

A 73-year-old never-smoker woman with chronic bronchitis, increasing dyspnoea, and airflow limitation with a FEV, of 49% of predicted value had low serum level of alpha-1-antitrypsin (69 mg/dL, normal range 150-350). Isoelectric focusing showed an M like 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 M like variant was denominated M Varallo from the site where it was discovered.

Original languageEnglish
Pages (from-to)237-239
Number of pages3
JournalDiagnostic Molecular Pathology
Volume12
Issue number4
DOIs
Publication statusPublished - Dec 2003

Keywords

  • Alpha 1-antitryspin deficiency
  • Chronic airflow limitation
  • New M variant

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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