Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations

被引：12

作者：

Mikula, Mario ^{[1
]}

Buller, Arlene ^{[1
]}

Sun, Weimin ^{[1
]}

Strom, Charles M. ^{[1
]}

机构：

[1] Quest Diagnost Nichols Inst, Dept Mol Genet, San Juan Capistrano, CA 92690 USA

来源：

GENETICS IN MEDICINE | 2008年 / 10卷 / 05期

关键词：

familial mediterranean fever; MEFV; frequency;

D O I：

10.1097/GIM.0b013e3181723cc8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: To determine the carrier frequency of familial Mediterranean fever (FMF) mutations of individuals in three different US testing populations: Cystic fibrosis, Factor V Leiden, and Ashkenazi Jews. Methods: DNA samples from 1234 anonymous samples were screened for 12 FMF mutations using a laboratory-developed test. Results: Genotyping revealed carrier frequencies of 1:16, 1:46, and 1:8, respectively. Conclusion: MEFV mutation frequency seems to correlate positively with Mediterranean influence of the tested population and the high overall carrier rate for MEFV mutations in the Factor V Leiden testing population (1:46) suggests that the disease may be under-diagnosed in the US population or that the mutant alleles have a low penetrance.

引用

页码：349 / 352

页数：4

共 11 条

[1] Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population [J].

Aksentijevich, I ;

Torosyan, Y ;

Samuels, J ;

Centola, M ;

Pras, E ;

Chae, JJ ;

Oddoux, C ;

Wood, G ;

Azzaro, MP ;

Palumbo, G ;

Giustolisi, R ;

Pras, M ;

Ostrer, H ;

Kastner, DL .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (04) :949-962

[2] Familial Mediterranean fever [J].

Bakkaloglu, A .

PEDIATRIC NEPHROLOGY, 2003, 18 (09) :853-859

[3]

Ben-Chetrit E, 2000, HUM MUTAT, V15, P385, DOI 10.1002/(SICI)1098-1004(200004)15:4<385::AID-HUMU22>3.0.CO

[4]

2-A

[5] MEFV-gene analysis in Armenian patients with familial Mediterranean fever:: Diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype -: Genetic and therapeutic implications [J].

Cazeneuve, C ;

Sarkisian, T ;

Pêcheux, C ;

Dervichian, M ;

Nédelec, B ;

Reinert, P ;

Ayvazyan, A ;

Kouyoumdjian, JC ;

Ajrapetyan, H ;

Delpech, M ;

Goossens, M ;

Dodé, C ;

Grateau, G ;

Amselem, S .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (01) :88-97

[6] Criteria for the diagnosis of familial Mediterranean fever [J].

Livneh, A ;

Langevitz, P ;

Zemer, D ;

Zaks, N ;

Kees, S ;

Lidar, T ;

Migdal, A ;

Padeh, S ;

Pras, M .

ARTHRITIS AND RHEUMATISM, 1997, 40 (10) :1879-1885

[7] Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis [J].

Richards, N ;

Schaner, P ;

Diaz, A ;

Stuckey, J ;

Shelden, E ;

Wadhwa, A ;

Gumucio, DL .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (42) :39320-39329

[8] Familial Mediterranean fever at the millennium - Clinical spectrum, ancient mutations, and a survey of 100 American - Referrals to the National Institutes of Health [J].

Samuels, J ;

Aksentijevich, I ;

Torosyan, Y ;

Centola, M ;

Deng, ZM ;

Sood, R ;

Kastner, DL .

MEDICINE, 1998, 77 (04) :268-297

[9] FAMILIAL MEDITERRANEAN FEVER - A SURVEY OF 470 CASES AND REVIEW OF LITERATURE [J].

SOHAR, E ;

GAFNI, J ;

PRAS, M ;

HELLER, H .

AMERICAN JOURNAL OF MEDICINE, 1967, 43 (02) :227-+

[10] Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups [J].

Stoffman, N ;

Magal, N ;

Shohat, T ;

Lotan, R ;

Koman, S ;

Oron, A ;

Danon, Y ;

Halpern, GJ ;

Lifshitz, Y ;

Shohat, M .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (04) :307-310

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