1Novel <it>MEFV </it>transcripts in Familial Mediterranean fever patients and controls

• Հիմնական հեղինակներ: Jalkh Nadine (Հեղինակ), Chouery Eliane (Հեղինակ), Nehme Nancy (Հեղինակ), Medlej-Hashim Myrna (Հեղինակ), Megarbane André (Հեղինակ)
• Ձևաչափ: Գիրք
• Հրապարակվել է: BMC, 2010-06-01T00:00:00Z.
• Խորագրեր: article
• Առցանց հասանելիություն: Connect to this object online.
• Notes: 10.1186/1471-2350-11-87; 1471-2350
• Keywords: Internal medicine; RC31-1245; Genetics; QH426-470
• Source: BMC Medical Genetics, Vol 11, Iss 1, p 87 (2010)

<p>Abstract</p> <p>Background</p> <p>Familial Mediterranean fever is a recessive autoinflammatory disease frequently encountered in Armenians, Jews, Arabs and Turks. The <it>MEFV </it>gene is responsible for the disease. It encodes a protein called pyrin/marenostrin involved in the innate immune system. A large number of clinically diagnosed FMF patients carry only one <it>MEFV </it>mutation. This study aims at studying the <it>MEFV </it>gene splicing pattern in heterozygous FMF patients and healthy individuals, in an attempt to understand the mechanism underlying the disease in these patients.</p> <p>Methods</p> <p>RNA was extracted from peripheral blood leucocytes of 41 FMF patients and 34 healthy individuals. RT-PCR was then performed, and the amplified products were migrated on a polyacrylamide electrophoresis gel, characterized by gel extraction of the corresponding bands followed by sequencing.</p> <p>Results</p> <p>Five novel splicing events were observed in both patients and controls deleting either exons 3, 4 (del34), or exons 2, 3, 4 (del234), or exons 2, 3, 4, 5 (del2345) or exon7 (del7) or exons 7 and 8 (del78).</p> <p>Conclusions</p> <p>The observation of such qualitative variability in the expression of the <it>MEFV </it>gene suggests a complex transcriptional regulation. However, the expression of these novel transcripts in both patients and controls is not in favour of a severe pathogenic effect.</p>