Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population

被引:17
作者
Ait-Idir, Djouher [1 ,2 ]
Khilan, Abdulghani [3 ]
Djerdjouri, Bahia [1 ]
El-Shanti, Hatem [3 ,4 ]
机构
[1] Univ Sci & Technol Houari Boumediene, Fac Biol Sci, Algiers, Algeria
[2] Univ MHamed Bougara, Fac Sci, Boumerdes, Algeria
[3] Shafallah Med Genet Ctr, Dept Mol Genet, Doha, Qatar
[4] Univ Iowa, Dept Pediat, Carver Coll Med, Iowa City, IA 52242 USA
关键词
Familial Mediterranean fever; Algeria; Carrier rate; Mutation; Amyloidosis; Autoinflammatory; MEFV MUTATIONS; COLCHICINE; ARABS; AMYLOIDOSIS; PREVALENCE; RATES; FMF;
D O I
10.1093/rheumatology/ker328
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Methods. We recruited 71 unrelated subjects clinically diagnosed with FMF from various clinics in the central region of Algeria. Two hundred and thirty control subjects were recruited as well. Mutation detection in MEFV was performed by re-sequencing the promoter region, the entire coding sequence and all exon-intron boundaries. Results. We detected eight different mutations located in exons 10 (p.M694I, p.M694V, p.A744S, p.M680I, p.I692Del), 9 (p.I591T), 3 (p.P369S/p.R408Q) and 2 (p.E148Q). Out of the 71 patients, 31 carried at least one mutation. While the 71 patients are expected to have 142 mutant chromosomes, only 50 were identified. p.M694I (17.6%) is the most common mutation, followed by p.M694V (5%), p.E148Q (4.2%), p.A744S (3.5%) and p.M680I (3%). One novel variant was identified in the promoter region in the heterozygous state in three patients and in two controls. The carrier rate of the identifiable mutations is estimated to be 1 : 5. Conclusion. This study describes the MEFV mutational spectrum and distribution in the Algerian population. It shows that p.M694I is the most common MEFV mutation in Algerians. It also shows that, similar to other Arabic populations, < 50% of mutant chromosomes are identified, even when employing comprehensive strategies.
引用
收藏
页码:2306 / 2310
页数:5
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