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1.

Заглавие журнала :The Ukrainian biochemical journal -2018г. т.90,N 4
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Veklich T. O. Pathways and mechanisms of transmembrane calcium ions exchange in the cell nucleus/ T. O. Veklich, Yu. V. Nikonishyna, S. O. Kosterin (стр.5-24)
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Shymanskyi I. O. Liver cytochrome P450-hydroxylation system of tumor-bearing rats under the influence of ?-3 polyunsaturated fatty acids and vitamin D3/ I. O. Shymanskyi [et al.] (стр.36-44)
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Makarchikov A. F. Adenosine thiamine triphosphate and adenosine thiamine triphosphate hydrolase activity in animal tissues/ A. F. Makarchikov [et al.] (стр.52-63)
Kaplia A. A. Assessment of the effect of monohydroxy alcohols, unsaturated fatty acids, organophosphate compounds on the enzymatic ATP-hydrolysis in the cell membranes of the smooth muscle of the rat colon/ A. A. Kaplia, S. V. Midyk, S. V. Khyzhnyak (стр.64-73)
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Bobrovnik S. A. Effect of trifluoroethanol on antibody reactivity against corresponding and nonrealated antigens/ S. A. Bobrovnik, M. O. Demchenko, S. V. Komisarenko (стр.80-89)
Sierra-Campos E. Nitrate and nitrite in drinking water affect antioxidant enzymes in erythrocytes of rats/ E. Sierra-Campos [et al.] (стр.90-101)
Salyha N. O. Effects of L-glutamic acid and pyridoxine on glutathione depletion and lipid peroxidation generated by epinephrine-induced stress in rats/ N. O. Salyha (стр.102-110)
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Ozbolat. Hematologic features of beta-globin gene mutation type (??) with homozygous beta thalassemia/ Guluzar Ozbolat, Abdullah Tuli (стр.115-120)
Данилова В. М. Альфред Бернгард Нобель і Нобелівська премія/ В. М. Данилова, Р. П. Виноградова, С. В. Комісаренко (стр.121-134)
Danylova T. V. Scientific investigation of Nobel prize winner Emil Fischer as a launching pad for the development of biochemistry: a brief overview/ T. V. Danylova, S. V. Komisarenko (стр.135-142)
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2.

Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Ozbolat, Guluzar, Tuli, Abdullah
Заглавие : Hematologic features of beta-globin gene mutation type (??) with homozygous beta thalassemia
Место публикации : The Ukrainian Biochemical Journal. - Київ, 2018. - Том 90, N 4. - С. 115-120 (Шифр УУ60/2018/90/4)
MeSH-главная: БЕТА-ТАЛАССЕМИЯ -- BETA-THALASSEMIA
СЕКВЕНИРОВАНИЕ ДНК -- SEQUENCE ANALYSIS, DNA
ГЕНЕТИЧЕСКАЯ ИЗМЕНЧИВОСТЬ -- GENETIC VARIATION
Аннотация: β-Tthalassemia is common genetic disorders in Turkey that characterized by the reduced synthesis (β+) or absence (βo) of the β-globin chains in the HbA molecule. In this study, we aimed to determine the effect of the mutation type of the β-globin gene on hematological values in homozygous β-thalassemia. This retrospective study was undertaken by Prenatal Diagnosis Centres of Cukurova University Medical Biochemistry at Adana. We evaluated 60 homozygous by implementing DNA sequencing analysis for mutations undetectab­le by conventional methods. 30 patients with βo [FSC 44/ C-A] mutations and the other 30 patients with βo [(IVS-II-1(GA), CD39 (CT), Cd8 (-AA) Cd39 C T and CD36/37 (–T)] mutations, totally 60 patients were included in the study. Erythrocyte indices, HbF, HbA2 levels were compared between the two groups. FSC 44/(-C) mutations were detected in patients. Hb, Hct, MCV in this group values were statistically lower than in patients with other detected mutations (P 0.05). Between the two groups, there is no statistically different RBC, MCH, MCHC, HbF, HbA2 levels (P ˃ 0.05). For the first time in this study, it was found that the Hb, Hct and MCV value of the persons who carried the FSC 44/(-C) mutation were significantly lower than the persons who carrying other mutations. Between the two groups, there was no statistical difference in RBC, MCH, MCHC, HbF and HbA2 levels. Awareness of FSC/44 mutation, which may have a heterogeneous clinical presentation, is required. We herein present the hematologic findings of a Turkish population carrying this mutation. This will also help to make a diagnosis
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