Conţinutul numărului revistei |
Articolul precedent |
Articolul urmator |
1066 15 |
Ultima descărcare din IBN: 2024-03-22 08:04 |
SM ISO690:2012 SACARĂ, Victoria, FLOREA, Victoria, SCVORTOVA, Elena. Corelaţia între manifestarea fenotipică, tipul mutaţiei şi varianta alelică a genelor ciclului folat la pacienţii cu distrofia musculară duchenne/becker
. In: Analele Ştiinţifice ale USMF „N. Testemiţanu”, 2009, nr. 1(10), pp. 214-221. ISSN 1857-1719. |
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Analele Ştiinţifice ale USMF „N. Testemiţanu” | ||||||
Numărul 1(10) / 2009 / ISSN 1857-1719 | ||||||
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Pag. 214-221 | ||||||
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The correlation between phenotypic manifestations, type of mutation and alelic variants of the genes of folate cycle in patients with Duchenne/Becker muscular distrophy The frequency of different alelic variants of MTHFR gene in patients with DMD/B was estimated during this investigation. The incidence of C677T allelic variant in patients with DMD/B was 21,4%. This mutation leads to reduction of activity of MTHFR by 35-60%, and, consequently, leads to a reduced level of methionine, which influences the myopathyc process. Analysis of MTRR polymorphism revealed the prevalence of A66G (92,9%), which leads to 4- times lower activity of this enzyme. Patients with in-frame deletions in dystrophin gene in combination with heterozygous status MTHFR, MTRR genes have severe clinical picture instead
the mild one. Patients with mild clinical picture have the next genotype of folate cycle genes: 677-TT, 1298- CC. |
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