Breuning M H, Bakker E
Afd. Klinische Genetica, Leids Universitair Medisch Centrum, RC Leiden.
Ned Tijdschr Geneeskd. 2000 Sep 2;144(36):1728-30.
Familial mediterranean fever (FMF) is an autosomal recessive hereditary disorder associated with mutations in the gene on chromosome 16 encoding the protein pyrine (marenostrine). Marenostrine is thought to stimulate the production of an inactivator of a chemotactic factor (possibly C5a). The mutations result in ongoing inflammation, a hallmark of FMF. DNA diagnosis of FMF is operational in Leiden University, the Netherlands, for one year now.
家族性地中海热（FMF）是一种常染色体隐性遗传性疾病，与16号染色体上编码pyrine（marenostrine）蛋白的基因突变有关。据认为，marenostrine能刺激趋化因子（可能是C5a）灭活剂的产生。这些突变会导致持续炎症，这是FMF的一个标志。荷兰莱顿大学开展FMF的DNA诊断已有一年时间。
