Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients
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 13...
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Poznan University of Medical Sciences
2020-03-01
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| Series: | Journal of Medical Science |
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| Online Access: | https://jms.ump.edu.pl/index.php/JMS/article/view/383 |
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doaj-a523de0ff25c4f85aab3329b906844602021-08-30T06:54:59ZengPoznan University of Medical SciencesJournal of Medical Science2353-97982353-98012020-03-0189110.20883/medical.383Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patientsNika V Petrova0Nataliya Y Kashirskaya1Tatyana A Vasilyeva2Elenai I Kondratyeva3Andrey V Marakhonov4Milan Macek Jr5Evgeny K Ginter6Sergey I Kutsev7Rena A Zinchenko8Research Centre for Medical Genetics, MoscowResearch Centre for Medical Genetics, MoscowResearch Center for Medical Genetics, MoscowResearch Center for Medical Genetics, MoscowResearch Center for Medical Genetics, Moscow2nd Faculty of Medicine, Charles University, Prague; Motol University Hospital, PragueResearch Center for Medical Genetics, MoscowResearch Center for Medical Genetics, MoscowResearch Center for Medical Genetics, Moscow; National Institute of Public Health named after N.A. Semashko 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. https://jms.ump.edu.pl/index.php/JMS/article/view/383cystic fibrosisL138ins (c.411_412insCTA, p.Leu138dup) mutationhaplotype |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
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 |
| spellingShingle |
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 Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients Journal of Medical Science cystic fibrosis L138ins (c.411_412insCTA, p.Leu138dup) mutation haplotype |
| author_facet |
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 |
| author_sort |
Nika V Petrova |
| title |
Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients |
| title_short |
Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients |
| title_full |
Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients |
| title_fullStr |
Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients |
| title_full_unstemmed |
Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients |
| title_sort |
characteristics of the l138ins (p.leu138dup) mutation in russian cystic fibrosis patients |
| publisher |
Poznan University of Medical Sciences |
| series |
Journal of Medical Science |
| issn |
2353-9798 2353-9801 |
| publishDate |
2020-03-01 |
| description |
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.
|
| topic |
cystic fibrosis L138ins (c.411_412insCTA, p.Leu138dup) mutation haplotype |
| url |
https://jms.ump.edu.pl/index.php/JMS/article/view/383 |
| work_keys_str_mv |
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