Department of Clinical Biochemistry, Ankara Numune Training and Research Hospital, 06100, Ankara, Turkey.
Mol Biol Rep. 2012 May;39(5):6193-6. doi: 10.1007/s11033-011-1437-3. Epub 2011 Dec 30.
Familial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease. FMF causes different clinical manifestations in different ethnic groups and countries. In this study, we retrospectively reviewed the records of 1,152 FMF suspected patients (673 female and 479 male) from November 2006 to December 2010. A commercial kit assay for the identification of MEFV (Mediterranean fever) gene mutations based on PCR and reverse-hybridization was used to investigate 12 mutations of the MEFV gene. 52.17% of 1,152 FMF suspected patients had MEFV mutation and 45.25% of them were male. The rate of MEFV mutation among male and female patients were 56.78 and 48.88%, respectively. These results were statistically significant and might support the suggestion that FMF had much more penetrance in male patients (P = 0.009). Not any significant difference was observed between the male and female patients in terms of heterozygote and homozygote mutation carriage rate (P = 0.071). Also not any significant difference was observed between the male and female patients in terms of compound heterozygote mutation carriage rate (P = 0.058).
家族性地中海热（FMF）是最常见的遗传性炎症性疾病。FMF 在不同的种族和国家表现出不同的临床表现。在这项研究中，我们回顾性地分析了 2006 年 11 月至 2010 年 12 月期间 1152 例 FMF 疑似患者（673 名女性和 479 名男性）的记录。使用一种基于 PCR 和反向杂交的 MEFV（地中海热）基因突变鉴定商业试剂盒检测 MEFV 基因的 12 种突变。1152 例 FMF 疑似患者中 52.17%存在 MEFV 突变，其中 45.25%为男性。男性和女性患者的 MEFV 突变率分别为 56.78%和 48.88%，差异具有统计学意义，这可能支持 FMF 在男性患者中具有更高外显率的观点（P=0.009）。男性和女性患者在杂合子和纯合子突变携带率方面无显著差异（P=0.071）。在复合杂合子突变携带率方面，男性和女性患者也无显著差异（P=0.058）。
