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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2010-06-01T00:00:00Z.
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LEADER | 00000 am a22000003u 4500 | ||
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001 | doaj_37e08aaec2494accaf94e7a8ed3dd6f0 | ||
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. |