Gershoni-Baruch R, Shinawi M, Leah K, Badarnah K, Brik R
Institute of Human Genetics, Rambam Medical Center, Haifa, Isreal.
Eur J Hum Genet. 2001 Aug;9(8):634-7. doi: 10.1038/sj.ejhg.5200672.
FMF is widely distributed in populations inhabiting the Mediterranean basin. It is mainly attributed to five founder mutations (M680I, M694V, M694I, V726A, E148Q) in the MEFV gene. The frequencies and distribution of these mutations in 146 FMF patients, of Arab and Jewish descent, were compared to that observed in 1173 healthy individuals of pertinent ethnic groups. Five mutations accounted for 91% of FMF chromosomes in our patients. Mutation M694V, predominant in North African Jews, was observed in all patients other than Ashkenazi Jews; mutation V726A was prevalent among all patients other than North African Jews; mutations M694I and M680I were mainly confined to Arab patients. Overall carrier rates, for four mutations (M680I, M694V, V726A, E148Q), were extremely high in our healthy cohort composed of Ashkenazi (n=407); Moroccan (n=243); Iraqi Jews (n=205); and Muslim Arabs (n=318); calculated at 1 : 4.5; 1 : 4.7; 1 : 3.5 and 1 : 4.3 respectively. The V726A allele prevalent among Ashkenazi and Iraqi Jews and Muslim Arabs (carrier rates: 7.4, 12.8 and 7.3%, respectively) was not found among Moroccan Jews. The M694V allele detected among Moroccan and Iraqi Jews and Muslim Arabs (carrier rates 11.1, 2.9 and 0.6%, respectively) was not observed among Ashkenazim. The overall frequency of mutations V726A and E148Q in Ashkenazim, Iraqi Jews and Arabs indicates that the bulk of individuals that comply with the genetic definition of FMF remain asymptomatic.
家族性地中海热（FMF）广泛分布于地中海盆地的人群中。它主要归因于MEFV基因中的五个奠基者突变（M680I、M694V、M694I、V726A、E148Q）。将146名阿拉伯和犹太裔FMF患者中这些突变的频率和分布与1173名相关种族健康个体中的情况进行了比较。五个突变占我们患者中FMF染色体的91%。M694V突变在北非犹太人中占主导地位，除阿什肯纳兹犹太人外的所有患者中均有观察到；V726A突变在除北非犹太人外的所有患者中普遍存在；M694I和M680I突变主要局限于阿拉伯患者。在由阿什肯纳兹人（n = 407）、摩洛哥人（n = 243）、伊拉克犹太人（n = 205）和穆斯林阿拉伯人（n = 318）组成的我们的健康队列中，四个突变（M680I、M694V、V726A、E148Q）的总体携带率极高；分别计算为1 : 4.5、1 : 4.7、1 : 3.5和1 : 4.3。在摩洛哥犹太人中未发现阿什肯纳兹人、伊拉克犹太人和穆斯林阿拉伯人中普遍存在的V726A等位基因（携带率分别为7.4%、12.8%和7.3%）。在摩洛哥和伊拉克犹太人和穆斯林阿拉伯人中检测到的M694V等位基因（携带率分别为11.1%、2.9%和0.6%）在阿什肯纳兹人中未观察到。阿什肯纳兹人、伊拉克犹太人和阿拉伯人中V726A和E148Q突变的总体频率表明，符合FMF基因定义的大多数个体仍无症状。
