Majeed Hasan A, El-Shanti Hatem, Al-Khateeb Mohammed S, Rabaiha Z Abu
Department of Pediatrics, Faculty of Medicine, University of Jordan, Amman.
Semin Arthritis Rheum. 2002 Jun;31(6):371-6. doi: 10.1053/sarh.2002.32551.
To study the phenotype/genotype correlations in Arab patients with familial Mediterranean fever (FMF).
The study was performed in a 3-year period (February 1998-February 2001). Patients were seen in the pediatric FMF clinic of Jordan University Hospital, and the diagnosis of FMF was made according to published criteria. Screening for mutations was carried out by direct sequencing of the entire coding sequence of exon 10 and its donor splice site and by restriction endonuclease testing for mutations in exon 2. A total of 278 patients with clinically positive FMF were screened.
Of the 278 patients, 50 (18%) had 2 mutations identified, and 76 (27%) other patients had only 1 mutation identified. The 50 patients with 2 mutations are the subject of this report. The M694V/M694V and the M694V/V726A and M694I/M694I genotypes were the most common (30%, 16%, and 14%, respectively). Three homozygous genotypes (M694V/M694V, V726A/V726A, and M694I/M694I) and 2 compound heterozygous genotypes (M694V/V726A and V726A/M680I) accounted for 78% of mutations. The difference in the mean severity score (14 +/- 2) of the M694V/M694V group and the V726A/V726A (mean severity score, 10 +/- 3) and M694I/M6941 (mean severity score, 6 +/- 1) groups was statistically significant (P =.003 and.0, respectively). The difference between the M649V/M694V group and the M694V/V726A (mean severity score, 15 +/- 2) was not statistically significant (P = 0.31).
The genotypes M694V/M694V and M694V/V726A have a severe clinical course in Arab patients with FMF, whereas the M694I/M694I is associated with mild disease.
研究患有家族性地中海热（FMF）的阿拉伯患者的表型/基因型相关性。
该研究在3年期间（1998年2月至2001年2月）进行。患者在约旦大学医院儿科FMF诊所就诊，FMF的诊断依据已发表的标准。通过对第10外显子及其供体剪接位点的整个编码序列进行直接测序以及通过限制性内切酶检测第2外显子中的突变来进行突变筛查。总共筛查了278例临床确诊为FMF的患者。
在这278例患者中，50例（18%）被鉴定出有2种突变，另外76例（27%）患者仅被鉴定出有1种突变。本报告以这50例有2种突变的患者为研究对象。M694V/M694V、M694V/V726A和M694I/M694I基因型最为常见（分别为30%、16%和14%）。三种纯合基因型（M694V/M694V、V726A/V726A和M694I/M694I）以及两种复合杂合基因型（M694V/V726A和V726A/M680I）占突变的78%。M694V/M694V组的平均严重程度评分（14±2）与V726A/V726A组（平均严重程度评分，10±3）和M694I/M694I组（平均严重程度评分，6±1）之间的差异具有统计学意义（P分别为0.003和0.0）。M649V/M694V组与M694V/V726A组（平均严重程度评分，15±2）之间的差异无统计学意义（P = 0.31）。
在患有FMF的阿拉伯患者中，基因型M694V/M694V和M694V/V726A具有严重的临床病程，而M694I/M694I与轻症疾病相关。
