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

Authors

DOI:

https://doi.org/10.20883/medical.383

Keywords:

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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References

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Published

2020-03-31

How to Cite

1.
Petrova NV, Kashirskaya NY, Vasilyeva TA, Kondratyeva EI, Marakhonov AV, Macek Jr M, et al. Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients. JMS [Internet]. 2020 Mar. 31 [cited 2024 Mar. 28];89(1):e383. Available from: https://jms.ump.edu.pl/index.php/JMS/article/view/383

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Original Papers
Received 2019-09-02
Accepted 2020-04-01
Published 2020-03-31