FREQUENCIES OF THE MEFV GENE
MUTATIONS IN AZERBAIJAN
Huseynova LS1, Mammadova SN, Aliyeva KAA
*Corresponding Author: Lala S. Huseynova, Ph.D., Department of Medical Biology and Genetics,
Azerbaijan Medical University, Anvar Gasimov Street 14, Baku City AZ1022, Azerbaijan. Tel.: +994-
506-630-623. E-mail: royahuseynova2006@gmail.com
page: 33
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Abstract
The MEFV (familial Mediterranean fever gene) researches
were performed in the population of the Republic
of Azerbaijan in 2016-2021. Seven mutations of the
MEFV gene were identified in heterozygous, homozygous
and compound homozygous conditions: R761H, M694I,
M694V, V726A, R202Q, M680I and E148Q. The E148Q
and R202Q mutations were discovered in exon 2 and
R761H M694I, M694V, V726A, M680I were found in
exon 10 in the population of the Republic of Azerbaijan.
The highest gene frequency of the MEFV gene examined
in 42 patients was 42.85% in the M694V mutations. The
second highest frequency was the R761H and the third
most frequent mutation was V726A. According to world
literature, five mutations, M694V, V726A, M694I, R202Q,
M680I and E148Q, constitute 75.0% of all mutations found
today. In our studies, these five mutations belong to the
same group, and makes up 57.6% of the total mutations
found. In order to prevent hereditary disease such as the
familial Mediterranean fever (FMF) in the population of
the Republic of Azerbaijan, it is planned to carry out prenatal
diagnosis (PND) of the at-risk families.
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