Frequency of E148Q and P369S polymorphism of FMF (Familial Mediterranean fever) patients from Azerbaijan population
Article Sidebar
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
Main Article Content
Abstract
In the present study, we adopted a case-control design to compare the frequencies of MEFV polymorphisms (E148Q) and (P369S) between patients from Azerbaijan population. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping MEFV polymorphisms in 160 patients and 100 healthy controls. Genetic test was employed to compare the genotype and allele distributions between the case and control groups.
Article Details
References
Huseynova L.S., Ansarova A.H. Application of Sanger sequence technology in the study of CFTR, MEFV, GALT, PAH, BCKDHB and DBT gene mutations in the population Azerbaijan. International journal of online and biomedical engineering. Vol. 19, No. 01, Austria. 2023. P. 153-161
Huseynova L.S., Aliyeva K.A., Najafzada G.B., Yusufova Kh.J., Hashimova A.R. Molecular genetic research of MEFV gene in population of Azerbaijan Republic. Sylwan. Poland. 162 (5)., 2018. p.31-36.
Huseynova L.S., Aliyeva K.A., Rasulov E.M., Valiyeva G.A. Molecular genetic characteristics of MEFV gene for the Familial Mediterranean Fever disease in patient from Azerbaijan Republic. Human genome and health 2 nd International Conference.Translational Medicine in the Era of Omics. 2019. p.13.
Huseynova L.S., Haqverdiyeva R.R. Pathogenetic potential of the mutations of MEFV gene in the Azerbaijan population. Proceedings of the 2 nd International Scientific and Practical Conference Global and regional aspects of sustainable development. Copenhagen, Denmark. 26-28.02.2021. p. 372-377.
Huseynova L.S., Valiyeva G.A. Distribution of the MEFV gene mutation in Azerbaijan. Proceedings of the 8 th International Scientific and Practical Conference Scientific research in XXI century. No44. Ottawa, Canada. 6-8.03.2021. p. 414-419.
Huseynova L.S., Mammadova S.N., Aliyeva K.A. Frequencies of the MEFV gene mutations in Azerbaijan. Balkan Journal of Medical Genetics.
(2), 2021. p.33-38.
Solak M, Yildiz H, Koken R, Erdogan M, Eser B, Sen T, Evirgen N, Erdem S, Arikan E: Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever. Genet Test. 2008, 12 (3): 341-344. 10.1089/gte.2008.0009. doi: 10.1089/gte.2008.0009
Eisenberg S, Aksentijevich I, Deng Z, Kastner D, Matzner Y: Diagnosis of Familial Mediterranean Fever by a Molecular Genetics Method. Ann Intern Med. 1998, 129 (7): 539-542.
Mikula M, Buller A, Sun W, Strom CM: Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations. Genet Med. 2008, 10 (5): 349-352.
Atagunduz MP, Tuglular S, Kantarci G, Akoglu E, Direskeneli H: Association of FMF-related (MEFV) point mutations with secondary and FMF amyloidosis. Nephron Clin Pract. 2004, 96 (4): c131-c135.
Kinikli G, Bektaş M, Misirlioğlu M, Ateş A, Turgay M, Tuncer S, Kinikli S, Tokgöz G: Relationship between HLA-DR, HLA-DQ alleles and MEFV gene mutations in Familial Mediterranean fever (FMF) patients. Turk J Gastroenterol. 2005, 16 (3): 143-146.
Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M,
Salem N, Delague V, Mégarbané A: Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation. Eur J Med Genet. 2006, 49 (6): 481-486.
Sahn DJ, DeMaria A, Kisslo J, Weyman A: Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements. Circulation. 1978, 58: 1072-1083.
Devereux RB, Reichek N: Echocardiographic determination of left ventricular mass in man. Anatomic validation of the method. Circulation. 1977, 55: 613-618.
Gaibazzi N, Petrucci N, Ziacchi V: Left ventricle myocardial performance index derived either by conventional method or mitral annulus tissue-Doppler: a comparison study in healthy subjects and subjects with heart failure. J Am Soc Echocardiogr. 2005, 18 (12): 1270-1276.