Nat Genet. 1997 Sep;17(1):25-31. doi: 10.1038/ng0997-25.
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by attacks of fever and serositis. In this paper, we define a minimal co-segregating region of 60 kb containing the FMF gene (MEFV) and identify four different transcript units within this region. One of these transcripts encodes a new protein (marenostrin) related to the ret-finger protein and to butyrophllin. Four conservative missense variations co-segregating with FMF have been found within the MEFV candidate gene in 85% of the carrier chromosomes. These variations, which cluster at the carboxy terminal domain of the protein, were not present in 308 control chromosomes, including 162 validated non-carriers. We therefore propose that the sequence alterations in the marenostrin protein are responsible for the FMF disease.
家族性地中海热（FMF）是一种常染色体隐性疾病，其特征为发热和浆膜炎发作。在本文中，我们确定了一个包含FMF基因（MEFV）的60 kb最小共分离区域，并在该区域内鉴定出四个不同的转录单元。其中一个转录本编码一种与ret手指蛋白和乳脂肪球膜蛋白相关的新蛋白质（marenostrin）。在MEFV候选基因中，已在85%的携带染色体上发现了四个与FMF共分离的保守错义变异。这些变异聚集在该蛋白质的羧基末端结构域，在308条对照染色体中未出现，包括162条经证实的非携带者染色体。因此，我们认为marenostrin蛋白中的序列改变是导致FMF疾病的原因。
