PDF(Pubmed)
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.
摘要：
MEFV（家族性地中海热基因）研究于2016-2021年在阿塞拜疆共和国人口中进行。在杂合中鉴定出MEFV基因的七个突变，纯合和复合纯合条件：R761H，M694I,M694V,V726A,R202Q,M680I和E148Q。在外显子2和R761HM694I中发现了E148Q和R202Q突变，M694V,V726A,在阿塞拜疆共和国的第10外显子中发现了M680I。在M694V突变中，在42例患者中检查的MEFV基因的最高基因频率为42.85％。第二高频率是R761H,第三高频率的突变是V726A。根据世界文学，五个突变,M694V,V726A,M694I,R202Q,M680I和E148Q,占今天发现的所有突变的75.0%。在我们的研究中,这五个突变属于同一组，占发现的总突变的57.6%。为了预防阿塞拜疆共和国人口中的遗传性疾病，例如家族性地中海热（FMF），计划对高危家庭进行产前诊断(PND)。
