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

<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/mar...

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Main Authors: Jalkh Nadine (Author), Chouery Eliane (Author), Nehme Nancy (Author), Medlej-Hashim Myrna (Author), Megarbane André (Author)
Format: Book
Published: BMC, 2010-06-01T00:00:00Z.
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042 |a dc 
100 1 0 |a Jalkh Nadine  |e author 
700 1 0 |a Chouery Eliane  |e author 
700 1 0 |a Nehme Nancy  |e author 
700 1 0 |a Medlej-Hashim Myrna  |e author 
700 1 0 |a Megarbane André  |e author 
245 0 0 |a 1Novel <it>MEFV </it>transcripts in Familial Mediterranean fever patients and controls 
260 |b BMC,   |c 2010-06-01T00:00:00Z. 
500 |a 10.1186/1471-2350-11-87 
500 |a 1471-2350 
520 |a <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> 
546 |a EN 
690 |a Internal medicine 
690 |a RC31-1245 
690 |a Genetics 
690 |a QH426-470 
655 7 |a article  |2 local 
786 0 |n BMC Medical Genetics, Vol 11, Iss 1, p 87 (2010) 
787 0 |n http://www.biomedcentral.com/1471-2350/11/87 
787 0 |n https://doaj.org/toc/1471-2350 
856 4 1 |u https://doaj.org/article/37e08aaec2494accaf94e7a8ed3dd6f0  |z Connect to this object online.