Frequencies of the Gene Mutations in Azerbaijan

Overview

Journal Balkan J Med Genet

Publisher Sciendo

Specialty Genetics

Date 2022 Oct 17

PMID 36249512

Authors

L S Huseynova

S N Mammadova

Kaa Aliyeva

Affiliations

Soon will be listed here.

Abstract

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