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Title: Molecular-Genetic Research of Early Epileptic Encephalopathy and Cystic Fibrosis Disease in Population of Azerbaijan
Authors: Huseynova, Lala
Nasibova, Ziba
Keywords: inherited diseases
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Issue Date: 2020
Publisher: Khazar University Press
Citation: Khazar Journal of Science and Technology
Series/Report no.: Vol. 4;№ 1
Abstract: The purpose of our research was to conduct an analysis of an Azerbaijani patient diagnosed with early epileptic encephalogatia for the first time using modern molecular genetic methods, to study the genetics of the disease. In order to research of molecular genetic study of early epileptic encephalopathy, we screened the SPTAM1 gene among children with similar diagnoses. For the first time in a patient diagnosed with epileptic encephalopathy, this associated identity of SPTAN1 has been identified, with no indication that the mutation has been localized. Among the new alcoholic diseases in the Republic of Azerbaijan are the centers for the treatment of early epileptic encephalopathy and health disease SPTAM1 gene screening. Five mutations for CFTR gene for the first time was identified in Azerbaijan population. They are as follows: Phe508del, 965,(T>C), 1000 (G>T), 1210-1211 (T>G) and 328 (G>C). Gene frequencies were equal to: Phe508del (68,75%), in two 965,T>C (12,5%) and in each of – 1000 G>T (6,25%), 1210-1211,T>G (6,25%) and 328,G>C (6,25%). We were first to describe mutation 965, T>C (Leu322Pro). Among children under study, cystic fibrosis diagnosed kids’ amount consisted 5,37%.
ISSN: 2520-6133
Appears in Collections:2020, Vol. 4, № 1

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