Familial Mediterranean fever
Familial Mediterranean fever
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DOI：
10.1016/s0140-6736(97)09408-7
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发表时间：
1998-02-28
期刊：
影响因子：
168.9
通讯作者：
Levy, M
中科院分区：
文献类型：
--
作者：
Ben-Chetrit, E;Levy, M
国际联盟检测到一个3.7kb的全长转录本，编码一种由781个氨基酸组成的蛋白质。这种蛋白质产物被称为“比林”，表明它与发烧有关，发烧是FMF的标志。3法国财团分离到一个1.9kb的互补DNA序列，部分编码一种蛋白质，他们将其命名为“marenostrin”(“我们的海洋”)，指的是FMF的地中海焦点。4在基因外显子10的羧基末端发现了几个保守的错义突变。两个研究小组(小组1)都报告了三个相同的突变；法国财团检测到第四个。该基因是新基因，在蛋白质数据库中没有序列同一性。这三个突变中的一个在85%的携带者染色体中被发现，因此大约15%的FMF携带者染色体还没有明显的突变。最近在来自不同种族的几个家庭中发现了该基因第二外显子的额外突变。流行病学FMF几乎完全限于非德系犹太人、亚美尼亚人、阿拉伯人和土耳其人。德国、波兰、澳大利亚和巴西都有FMF患者的报告，但在这些病例中，大多数患者的确切祖先没有披露，或者他们可能是另一种形式的周期性疾病。超过90%的犹太FMF患者是Sephardic或中东血统。塞法迪克犹太人是15世纪被驱逐出西班牙的犹太人的后代，这些犹太人分散在北非和地中海国家。中东犹太人(主要是伊拉克人)是2500多年前被巴比伦人流放到美索不达米亚的犹太人的后裔。德系犹太人主要来自东欧和西欧，他们的起源是2000年前被罗马人流放出犹太的犹太人，以及后来的迫害和皈依。FMF在也门犹太人中很少被描述，在埃塞俄比亚的犹太人中完全没有。在以色列，大约有5000名FMF患者，患病率约为1/500(平均携带者频率为1/11)。然而，这种疾病在非德系犹太人的不同亚群中并不平均分布。例如，在北非犹太人中，携带者的比例是六分之一到八分之一，所以在这个人群中，流行性出血热的流行率可能超过256%。对居住在黎巴嫩的亚美尼亚人的150例口蹄疫病例的评估表明，患病率为每500人中有1例，但亚美尼亚口蹄疫患者的绝对人数无法提供。6、12关于以下方面的大部分数据
The international consortium detected a full-length transcript of 3· 7 kb encoding a protein consisting of 781 aminoacids. This protein product was termed “pyrin”, indicating its relation to fever, the hallmark of FMF. 3 The French consortium isolated a 1· 9 kb complementary DNA sequence coding partly a protein they named “marenostrin”(“our sea”), in reference to the Mediterranean focus of FMF. 4 Several conservative missense mutations were discovered in exon 10 of the gene at its carboxyterminal site. Three identical mutations were reported by both research groups (panel 1); the French consortium detected a fourth. The gene was novel, with no sequence identities in the protein database. One of these three mutations was found in 85% of carrier chromosomes so about 15% of FMF carrier chromosomes do not yet have demonstrable mutations. Additional mutations in exon 2 of the gene have recently been detected in several families from various ethnic groups.Epidemiology FMF is almost completely restricted to non-Ashkenazi Jews, Armenians, Arabs, and Turks. Patients with FMF have been reported from Germany, Poland, Australia, and Brazil1 but in most of these cases the exact ancestry was not disclosed or they could be cases of another form of periodic disease. More than 90% of Jewish FMF patients are of Sephardic or Middle Eastern origin. Sephardic Jews are descendants of those expelled from Spain in the 15th century, who were dispersed through various north African and Mediterranean countries. Middle Eastern Jews (mainly Iraqi) are descendants of Jews exiled to Mesopotamia by the Babylonians more than 2500 years ago. The Ashkenazi Jews stem mainly from eastern and western Europe and their origin is combined from Jews exiled from Judea by the Romans 2000 years ago and through later persecutions and conversions. FMF has been described very rarely in Yemenite Jews and not at all in Jews from Ethiopia. In Israel there are about 5000 patients with FMF with a prevalence of about 1 in 500 (average carrier frequency of 1 in 11). However, the disease is not equally distributed among the various subgroups of the non-Ashkenazi Jews. For example, in north African Jews the carrier rate is 1 in 6 to 1 in 8 so in this population the prevalence of FMF can be more than 1 in 256. An evaluation of 150 FMF cases among Armenians living in Lebanon suggests a prevalence of 1 in 500, but the absolute number of Armenian FMF patients is not available. 6, 12 Most data about