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

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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

Abstract

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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How to Cite
1.
Petrova NV, Kashirskaya NY, Vasilyeva TA, Kondratyeva EI, Marakhonov AV, Macek Jr M, Ginter EK, Kutsev SI, Zinchenko RA. Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients. JMS [Internet]. 2020Mar.31 [cited 2020Jul.11];89(1):e383. Available from: https://jms.ump.edu.pl/index.php/JMS/article/view/383
Section
Original Papers