Aksentijevich I, Pras E, Gruberg L, Shen Y, Holman K, Helling S, Prosen L, Sutherland G R, Richards R I, Dean M
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892.
Am J Hum Genet. 1993 Sep;53(3):644-51.
Familial Mediterranean fever (FMF) is an autosomal recessive disease causing attacks of fever and serositis. The FMF gene (designated "MEF") is on 16p, with the gene order 16cen-D16S80-MEF-D16S94-D16S283-D16S291-++ +16pter. Here we report the association of FMF susceptibility with alleles as D16S94, D16S283, and D16S291 among 31 non-Ashkenazi Jewish families (14 Moroccan, 17 non-Moroccan). We observed highly significant associations at D16S283 and D16S291 among the Moroccan families. For the non-Moroccans, only the allelic association at D16S94 approached statistical significance. Haplotype analysis showed that 18/25 Moroccan FMF chromosomes, versus 0/21 noncarrier chromosomes, bore a specific haplotype for D16S94-D16S283-D16S291. Among non-Moroccans this haplotype was present in 6/26 FMF chromosomes versus 1/28 controls. Both groups of families are largely descended from Jews who fled the Spanish Inquisition. The strong haplotype association seen among the Moroccans is most likely a founder effect, given the recent origin and genetic isolation of the Moroccan Jewish community. The lower haplotype frequency among non-Moroccan carriers may reflect differences both in history and in population genetics.
家族性地中海热（FMF）是一种常染色体隐性疾病，可引发发热和浆膜炎发作。FMF基因（命名为“MEF”）位于16号染色体短臂上，基因顺序为16cen - D16S80 - MEF - D16S94 - D16S283 - D16S291 - ++ +16pter。在此，我们报告了在31个非阿什肯纳兹犹太家族（14个摩洛哥家族、17个非摩洛哥家族）中FMF易感性与D16S94、D16S283和D16S291等等位基因的关联。我们在摩洛哥家族中观察到D16S283和D16S291处存在高度显著的关联。对于非摩洛哥人，只有D16S94处的等位基因关联接近统计学显著性。单倍型分析显示，18/25条摩洛哥FMF染色体，与0/21条非携带者染色体相比，带有D16S94 - D16S283 - D16S291的特定单倍型。在非摩洛哥人中，该单倍型存在于6/26条FMF染色体中，而对照组为1/28条。这两组家族大多是逃离西班牙宗教裁判所的犹太人的后裔。鉴于摩洛哥犹太社区的近期起源和基因隔离，在摩洛哥人中观察到的强烈单倍型关联很可能是一种奠基者效应。非摩洛哥携带者中较低的单倍型频率可能反映了历史和群体遗传学方面的差异。
