Anwar Ghada Mohammad, Fouad Hanan M, Abd El-Hamid Amal, Mahmoud Faten, Musa Noha, Lotfi Hala, Salah Nermine
Pediatric Department, Cairo University, Cairo, Egypt.
Pediatric Department, National Hepatology and Tropical Medicine Research Institute, Cairo, Egypt.
Eur J Med Genet. 2015 Jan;58(1):31-4. doi: 10.1016/j.ejmg.2014.10.005. Epub 2014 Nov 4.
BACKGROUND/AIMS: An association of type 1 DM and familial Mediterranean fever (FMF) has been newly reported in the medical literature. The aim of the present work was to investigate frequency of MEFV gene mutations in Egyptian children with type 1 diabetes mellitus.
Forty five children with type 1 DM were screened for Mediterranean Fever (MEFV) gene mutation. Forty one healthy control subjects were included. Identification of FMF gene mutation was done based on polymerase chain reaction (PCR) and reverse hybridization. The assay covers 12 mutations in the FMF gene: E148Q - P369S - F479L - M680I (G/C) - M680I (G/A) - I692del - M694V - M694I - K695R-V726A - A744S and R761H.
Among the screened diabetics, the overall frequency of MEFV gene mutations was 42.2% and among the control group it was 34.1% with no significant difference. Fourteen out of 45 diabetic children (31.1%) were heterozygous (E148Q in 7 children, A744S in 3 children, V726A in 2 children, M680I (G/C) in 1 child and P369S in1 child), while 5 children (11.1%) were compound heterozygous (M694V/M694I in 2 children, E148Q/K695R mutations in 1 child, E148Q/M694I in 1 child and E148Q/V726A in 1 child). The control group showed heterozygous mutation in 34.1% of cases (E148Q mutation in 14.6%, V726A in 12.2%, M680I (G/C) in 4.9% and M694V in 2.4%).
No significant difference in mutation frequency between diabetic and non-diabetic children. We have high carrier rate of MEFV gene mutations among Egyptian population probably due to high consanguinity.
背景/目的：医学文献中最新报道了1型糖尿病（DM）与家族性地中海热（FMF）之间的关联。本研究的目的是调查埃及1型糖尿病患儿中MEFV基因突变的频率。
对45例1型糖尿病患儿进行地中海热（MEFV）基因突变筛查。纳入41名健康对照者。基于聚合酶链反应（PCR）和反向杂交技术进行FMF基因突变鉴定。该检测涵盖FMF基因中的12种突变：E148Q - P369S - F479L - M680I（G/C） - M680I（G/A） - I692del - M694V - M694I - K695R - V726A - A744S和R761H。
在筛查的糖尿病患儿中，MEFV基因突变的总体频率为42.2%，对照组为34.1%，差异无统计学意义。45例糖尿病患儿中有14例（31.1%）为杂合子（7例患儿为E148Q，3例患儿为A744S，2例患儿为V726A，1例患儿为M680I（G/C），1例患儿为P369S），5例患儿（11.1%）为复合杂合子（2例患儿为M694V/M694I，1例患儿为E148Q/K695R突变，1例患儿为E148Q/M694I，1例患儿为E148Q/V726A）。对照组中34.1%的病例存在杂合子突变（E148Q突变占14.6%，V726A占12.2%，M680I（G/C）占4.9%，M694V占2.4%）。
糖尿病患儿与非糖尿病患儿的突变频率无显著差异。埃及人群中MEFV基因突变的携带率较高，可能是由于近亲结婚率高。
