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Frequencies of the MEFV Gene Mutations in Azerbaijan

LS Huseynova

LS Huseynova

Department of Medical Biology and Genetics, Azerbaijan Medical UniversityBaku City, Azerbaijan
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Huseynova, LS
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SN Mammadova

SN Mammadova

Department of Medical Biology and Genetics, Azerbaijan Medical UniversityBaku City, Azerbaijan
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Mammadova, SN
 y 
KAA Aliyeva

KAA Aliyeva

Department of Genetics, Baku State UniversityBaku City, Azerbaijan
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Aliyeva, KAA
  
05 jun 2022
Frequencies of the MEFV Gene Mutations in Azerbaijan's Cover Image
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Categoría del artículo: Original Article
Publicado en línea: 05 jun 2022
Páginas: 33 - 38
DOI: https://doi.org/10.2478/bjmg-2021-0017
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© 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

The MEFV gene mutations in 2.0% agarose gel electrophoresis: M-100 pb DNA ladder; 1-Normal; 2-M694V heterozygous mutations in exon 10 (212bp); 3-Normal; 4-M680I heterozygous mutations in exon 10 (220bp); 5-Normal; 6-M694I heterozygous mutations in exon 10 (184bp); 7-Normal; 8-R761H heterozygous mutations in exon 10 (247bp); 9-R761H homeozygous mutations in exon 10 (247bp); 10-mutant bands (184–247 bp)
The MEFV gene mutations in 2.0% agarose gel electrophoresis: M-100 pb DNA ladder; 1-Normal; 2-M694V heterozygous mutations in exon 10 (212bp); 3-Normal; 4-M680I heterozygous mutations in exon 10 (220bp); 5-Normal; 6-M694I heterozygous mutations in exon 10 (184bp); 7-Normal; 8-R761H heterozygous mutations in exon 10 (247bp); 9-R761H homeozygous mutations in exon 10 (247bp); 10-mutant bands (184–247 bp)

Figure 2

Electropherogram of changes in the nucleotide sequence of the heterozygous form of the mutation M694V (2080 (A> G)) found in the 10th exon of the MEFV gene.
Electropherogram of changes in the nucleotide sequence of the heterozygous form of the mutation M694V (2080 (A> G)) found in the 10th exon of the MEFV gene.

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

№ 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%
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Temas de la revista:
Medicina, Ciencias médicas básicas, Ciencias médicas básicas, otros
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