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Maria Shurygina, Sergey Borzenok, Olga Khlebnikova, Oksana Nekrasova, Olga Kravchuk; The frequency of 5 mutations in the ABCA4 gene in Russian patients with a clinical diagnosis of Stargardt disease / Fundus Flavimaculatus. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1326.
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© ARVO (1962-2015); The Authors (2016-present)
To study the five mutations frequency occurrence of (Leu541Pro, Gly863Ala, Ala1038Val, Leu1940Pro, Gly1961Glu) in ABCA4 gene in patients with clinical diagnosis of Stargardt disease / Fundus Flavimaculatus in the Russian Federation.
DNA samples (n = 24) of unrelated patients with Stargardt disease / Fundus Flavimaculatus. In 5-exons ABCA4 gene five mutations were searched (12, 17, 21, 41, 42, Leu541Pro, Gly863Ala, Ala1038Val, Leu1940Pro, Gly1961Glu respectively). DNA was extracted from white blood cells using a set of reagents DIA / om ™ DNA RgerIII according to the manufacturer's protocol. To obtain fragments of exons ABCA4 gene polymerase chain reaction was performed. The amplification and analysis of restriction fragments length polymorphism were assessed by electrophoresis in a 7% polyacrylamide gel followed by staining the gel with a solution of ethidium bromide, and UV radiation registration .
In 25% cases (n = 6) compound heterozygotes mutation Gly1961Glu was found, in 8,3% cases (n=2) complex mutation Leu541Pro - Ala1038Val, in 8,3% cases (n=2) homozygous mutation Ala1038Val, in 4,2% cases (n=1) complex mutation Ala1038Val - Gly1961Glu, compound heterozygotes mutation Gly863Ala in 4,2% cases (n=1) and compound heterozygotes mutation Ala1038Val in 4,2% cases (n=1). In 45,8% cases (n = 11) five mutations were not detected. Thus, the allelic frequency of mutations in our sample of patients with a clinical diagnosis of Stargardt disease / Fundus Flavimaculatus was Ala1038Val 44,4%, Gly1961Glu 38,9 %, Leu541Pro 11,1%, Gly863Ala 5,6%.
The most frequent mutation in ABCA4 gene at Russian patients with Stargardt disease / Fundus Flavimaculatus was Ala1038Val, the second place in the frequency of the mutation was Gly1961Glu.
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