Published: 2020-03-31

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

Research Centre for Medical Genetics, Moscow
Research Centre for Medical Genetics, Moscow
Research Center for Medical Genetics, Moscow
Research Center for Medical Genetics, Moscow
Research Center for Medical Genetics, Moscow
2nd Faculty of Medicine, Charles University, Prague; Motol University Hospital, Prague
Research Center for Medical Genetics, Moscow
Research Center for Medical Genetics, Moscow
Research Center for Medical Genetics, Moscow; National Institute of Public Health named after N.A. Semashko
cystic fibrosis L138ins (c.411_412insCTA, p.Leu138dup) mutation haplotype

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 2020Sep.18];89(1):e383. Available from: https://jms.ump.edu.pl/index.php/JMS/article/view/383