Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)
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DOI：
10.1093/hmg/7.8.1317
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发表时间：
1998-08-01
影响因子：
3.5
通讯作者：
Touitou, I
中科院分区：
文献类型：
--
作者：
Bernot, A;da Silva, C;Touitou, I
家族性地中海热（FMF）是一种常染色体隐性遗传病，以反复发作的发热和血清炎为特征。它主要影响北非犹太人、亚美尼亚人、土耳其人和阿拉伯人，在这些人中已经证明了建立者效应。marenostrin-pyrin编码基因被认为是该疾病（MEFV）的候选基因，基于对聚集在第10外显子（M680V、M6941、M694V和V726A）的假定突变的鉴定，每个突变与一个祖先单倍型分离。外显子2 （E148Q、E167D和T267I）、外显子5 （F479L）和外显子10 （I692del、K695R、A744S和R761H）共8个突变，除E148Q和K695R外，其余突变均发生在一条染色体上。突变E148Q在所有研究的族群中都被发现，并且与非德系犹太人的一种新的祖先单倍型有关（S2）。总之，这些新发现明确地确定了marenostrin/pyrin编码基因是MEFV的位点。
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurring attacks of fever and serositis. It affects primarily North African Jews, Armenians, Turks and Arabs, in which a founder effect has been demonstrated, The marenostrin-pyrin-encoding gene has been proposed as a candidate gene for the disease (MEFV), on the basis of the identification of putative mutations clustered in exon 10(M680V, M6941, M694V and V726A), each segregating with one ancestral haplotype, In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H), Except for E148Q and K695R, all mutations were found in a single chromosome. Mutation E148Q was found in all ethnic groups studied and in association with a novel ancestral haplotype in non-Ashkenazi Jews (S2), Altogether, these new findings definitively establish the marenostrin/pyrin-encoding gene as the MEFV locus.