Spectrum of mutations in patients with organic acidurias from Ukraine

Aim. To identify mutations in patients from Ukraine with glutaric aciduria I, isolated methylmalonic aciduria, and isovaleric aciduria. Methods. Sanger sequencing. Results. We have identified 37.5 % of alleles (3/8) in patients with methylmalonic aciduria, 100 % of alleles (4/4) in patients with iso...

Повний опис

Збережено в:
Бібліографічні деталі
Дата:2018
Автори: Barvinska, O.I., Olkhovych, N.V., Shkurko, T.O., Gorovenko, N.G.
Формат: Стаття
Мова:English
Опубліковано: Інститут молекулярної біології і генетики НАН України 2018
Назва видання:Вiopolymers and Cell
Теми:
Онлайн доступ:http://dspace.nbuv.gov.ua/handle/123456789/154281
Теги: Додати тег
Немає тегів, Будьте першим, хто поставить тег для цього запису!
Назва журналу:Digital Library of Periodicals of National Academy of Sciences of Ukraine
Цитувати:Spectrum of mutations in patients with organic acidurias from Ukraine / O.I. Barvinska, N.V. Olkhovych, T.O. Shkurko, N.G. Gorovenko // Вiopolymers and Cell. — 2018. — Т. 34, № 2. — С. 107-116. — Бібліогр.: 19 назв. — англ.

Репозитарії

Digital Library of Periodicals of National Academy of Sciences of Ukraine
Опис
Резюме:Aim. To identify mutations in patients from Ukraine with glutaric aciduria I, isolated methylmalonic aciduria, and isovaleric aciduria. Methods. Sanger sequencing. Results. We have identified 37.5 % of alleles (3/8) in patients with methylmalonic aciduria, 100 % of alleles (4/4) in patients with isovaleric aciduria, 100 % of alleles (4/4) in patients with glutaric aciduria type I. MUT gene mutations in patients from Ukraine are represented by one known N219Y missense mutation p. and a R326G missense rearrangement. Analysis of the GCDH gene in patients from Ukraine revealed three known missense mutations: R383C, G390R and A421V. Rearrangements in the IVD gene of our patients were represented by two novel mutations: 49dupTGTGGCG, S133C, and one known mutation: R53P. Conclusions. The mutations observed in Ukrainian patients with organic acidurias were mostly represented by rare or new rearrangements. These data could be useful for the development of molecular diagnostics of Ukrainian patients with glutaric aciduria I, isolated methylmalonic aciduria, and isovaleric aciduria