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Abstract Details for Artem Ayvazyan

Abstract Information : A case of asymptomatic carrier of two mutations of MEFV gene one of which was absent in both parents Artem Ayvazyan               Yerevan State Medical University Presence of two mutations of MEFV gene in asymptomatic carriers is not a very rare phenomenon (Cazeneuve C. et al., 1999, Ayvazyan A., 2001, Ajrapetyan H. et al., 2001). However in the literature is not described the similar phenomenon that one of these mutations would be absent in parents. We observed case of familial Mediterranean fever (FMF) with the similar phenomenon in family. Our proband, woman born in 1995, suffered from adnominal attacks of FMF with arthropathy. Parents of proband deny the cases of FMF among relatives. The mutation analysis which has been carried out in Center of Medical Genetics of Academy of Sciences of Republic of Armenia (chief – professor Sarkisian T.), has shown at her the mutation genotype M680I/R761H. Father of proband is practically able-bodied with the mutation genotype R761H/0. The grandmother on a paternal line also is practically able-bodied with the mutation genotype 0/0. The grandfather on a paternal line has already died on the causes which were not linked with FMF. Mother of proband is practically able-bodied, but appeared asymptomatic carrier of two mutations of MEFV gene (E148Q/M680I). The grandfather on a maternal line is practically able-bodied with the mutation genotype M680I/0. The grandmother on a maternal line also is practically able-bodied with the mutation genotype 0/0. It is obtained, that mother of ours proband did not inherit the mutation E148Q neither from the father, nor from mother! If to leave in the side the extremely improbable explanations about possible substitution of the child in the maternity home, or about possible methodical error in genetical laboratory there is only one scientific explanation of the given phenomenon - virus transfer of the mutated MEFV gene. We explain the given paradox by means of a hypothesis of the viral transfer of mutated MEFV gene in one of embryonal cells, with the further formation of an organism with genetic defect only in a part of mesotheliocytes (Ayvazyan A., 2001). That creates an opportunity of the presence of mutation of MEFV gene in gametes, but not in the genomes of leukocytes, in DNA of which the search of mutations of MEFV gene is carried out.

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