<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>The <italic>MEFV</italic> (familial Mediterranean fever gene) researches were performed in the population of the Republic of Azerbaijan in 2016–2021. Seven mutations of the <italic>MEFV</italic> 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 <italic>MEFV</italic> 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.</p>
</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.

Frequencies of the <italic>MEFV</italic> Gene Mutations in Azerbaijan

Department of Medical Biology and Genetics

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Frequencies of the  Gene Mutations in Azerbaijan

{"article-title":{"italic":"MEFV","content":["Frequencies of the","Gene Mutations in Azerbaijan"]}}

The MEFV (familial Mediterranean fever gene) researches were performed in the population of the Republic of Azerbaijan in 2016–2021. Seven mutations of the...

№	Mutation	Location	Patients	Gene frequency (%)
11	E148Q	Exon 2	3	7.14%
22	M680İ	Exon 10	2	4.78%
33	R761H	Exon 10	13	30.95%
44	M694İ	Exon 10	3	7.14%
55	M694V	Exon 10	18	42.85%
66	V726A	Exon 10	3	7.14%

Frequencies of the MEFV Gene Mutations in Azerbaijan

Article Category: Original Article

Publicado en línea: 05 jun 2022

Páginas: 33 - 38

DOI: https://doi.org/10.2478/bjmg-2021-0017

Palabras clave
Exon, Familial Mediterranean fever (FMF), Gene, Inherited diseases, Protein

© 2021 LS Huseynova et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Figure 1

Figure 2

Gene frequencies of the studied mutations of the MEFV gene in the population of Azerbaijan in 2016–2021

Frequencies of the MEFV Gene Mutations in Azerbaijan

Article Category: Original Article

Publicado en línea: 05 jun 2022

Páginas: 33 - 38

DOI: https://doi.org/10.2478/bjmg-2021-0017

Palabras claveExon, Familial Mediterranean fever (FMF), Gene, Inherited diseases, Protein

© 2021 LS Huseynova et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Figure 1

Figure 2

Gene frequencies of the studied mutations of the MEFV gene in the population of Azerbaijan in 2016–2021

Palabras clave
Exon, Familial Mediterranean fever (FMF), Gene, Inherited diseases, Protein