Journal of Medical Science (Mar 2020)

Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients

  • Nika V Petrova,
  • Nataliya Y Kashirskaya,
  • Tatyana A Vasilyeva,
  • Elenai I Kondratyeva,
  • Andrey V Marakhonov,
  • Milan Macek Jr,
  • Evgeny K Ginter,
  • Sergey I Kutsev,
  • Rena A Zinchenko

DOI
https://doi.org/10.20883/medical.383
Journal volume & issue
Vol. 89, no. 1

Abstract

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The L138ins mutation, found in Russian cystic fibrosis (CF) patients, is a duplication of three nucleotides (CTA) in exon 4 of the CFTR gene and is categorised as a small in-frame insertion/deletion. As a result, the CFTR protein molecule elongates by one amino acid residue, leucine, at position 138 (codon 138 (CTA)). In accordance with the new nomenclature, it should be called c.411_412insCTA (p.Leu138dup). The c.411_412insCTA (p.Leu138dup, L138ins) mutation is found in CF patients of Slavic origin (Russians, Ukrainians) and has been linked to a single haplotype of the intragenic DNA markers IVS1CA-IVS6aGATT-IVS8CA-IVS17bCA - 22-7-16-13.

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