Balkan Journal of Medical Genetics

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

INTRODUCTION

The MEFV gene (familial Mediterranean fever gene) is located on chromosome 16 (16.13.3), and it is composed of 3,242,028-3,256,776 nucleotides. It is specified as having an autosome-recessive hereditary type. Autosomedominant hereditary species were also recorded [1]. The MEFV RoRet genes family contains exon 10, consisting of 10,000 nucleotide sequences. The length of the transcript consists of 3.7 thousand nucleotide sequences comprizing 761 synthesized pyridine protein amino acid bases. The pyrin (pyrin is a Greek word for “flame,” or marenostrin meaning “our sea” in Latin, which stands mainly for Mediterranean Sea) is expressed in myeloid cells. The MEFV gene is located between the genes responsible for the kidney polycystosis and Rubinstein-Teybi syndrome [2]. The molecular-genetic analysis of these mutantcarrying haplotypes revealed that they belonged to the same ancestor haplotype. In the process of evolution, the ancestor haplotype has been subjected to divergence [3]. The majority of discovered mutations occur at the last exon 10. Approximately 70.0% of patients living in the Mediterranean Sea region have one of five mutations (M694V, V726A, M694I, M6801 and E148Q) [4-6]. Familial Mediterranean fever could be encountered in medical literature as Armenian disease, non European hereditary family amyloidosis, Danuel-Mozental paroxysmal syndrome, periodic peritonitis, Rayman syndrome, Seagull-Mamu disease. If there is a disease, the symptoms usually manifest themselves by the age of 30. It is a rare frequency hereditary disease [3,7-8]. The disease occurs mostly on the Mediterranean coast area and in the Asia Minor communities: mostly in Armenians, Turks, Sephardic and Ashkenazi Jews, Arabs, and less in Greeks, Spaniards and Italians. The heterogeneity of the disease among the people living in the Mediterranean Sea region is 20.0%, and the rate of births of homozygous children is 1:1000 to 1:2500. There is sporadic frequency in other ethnic groups [9-12].

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact