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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doaj-37e08aaec2494accaf94e7a8ed3dd6f02021-04-02T10:30:09ZengBMCBMC Medical Genetics1471-23502010-06-011118710.1186/1471-2350-11-871Novel <it>MEFV </it>transcripts in Familial Mediterranean fever patients and controlsJalkh NadineChouery ElianeNehme NancyMedlej-Hashim MyrnaMegarbane André<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> http://www.biomedcentral.com/1471-2350/11/87 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Jalkh Nadine Chouery Eliane Nehme Nancy Medlej-Hashim Myrna Megarbane André |
spellingShingle |
Jalkh Nadine Chouery Eliane Nehme Nancy Medlej-Hashim Myrna Megarbane André 1Novel <it>MEFV </it>transcripts in Familial Mediterranean fever patients and controls BMC Medical Genetics |
author_facet |
Jalkh Nadine Chouery Eliane Nehme Nancy Medlej-Hashim Myrna Megarbane André |
author_sort |
Jalkh Nadine |
title |
1Novel <it>MEFV </it>transcripts in Familial Mediterranean fever patients and controls |
title_short |
1Novel <it>MEFV </it>transcripts in Familial Mediterranean fever patients and controls |
title_full |
1Novel <it>MEFV </it>transcripts in Familial Mediterranean fever patients and controls |
title_fullStr |
1Novel <it>MEFV </it>transcripts in Familial Mediterranean fever patients and controls |
title_full_unstemmed |
1Novel <it>MEFV </it>transcripts in Familial Mediterranean fever patients and controls |
title_sort |
1novel <it>mefv </it>transcripts in familial mediterranean fever patients and controls |
publisher |
BMC |
series |
BMC Medical Genetics |
issn |
1471-2350 |
publishDate |
2010-06-01 |
description |
<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> |
url |
http://www.biomedcentral.com/1471-2350/11/87 |
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