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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Diagnosis of familial Mediterranean fever by a molecular genetics method
S Eisenberg1, I Aksentijevich, Z Deng
1Hadassah University Hospital, Mount Scopus, Jerusalem, Israel.
Background:
Familial Mediterranean fever is a recessively inherited disorder characterized by episodes of fever with abdominal pain, pleurisy, or arthritis. The familial Mediterranean fever gene, designated MEFV, was recently cloned, and at least three missense mutations (M6801, M694V, and V726A) that account for a large percentage of patients with this disease were identified.
Objective:
To establish a diagnostic test for familial Mediterranean fever.
Design:
Cross-sectional study of a convenience sample of patients attending familial Mediterranean fever clinics.
Setting:
Tertiary referral hospitals.
Patients:
107 patients with familial Mediterranean fever, their family members, and controls.
Measurements:
Mutations in the 107 samples were assessed by amplifying genomic DNA with use of primers that selectively amplify the normal or altered DNA sequence of the 3 MEFV mutations (amplification refractory mutation system [ARMS]). Mutations were independently assessed by automated sequencing of genomic DNA amplified by polymerase chain reaction to evaluate the sensitivity and specificity of the ARMS assay.
Results:
The ARMS assay correctly identified M6801, M694V, and V726A mutations in 82 persons with mutations documented by DNA sequencing (21 homozygotes, 2 compound heterozygotes, and 59 simple heterozygotes). Of 7 persons known from family studies to be noncarriers and 18 unrelated persons who were negative for these mutations by sequencing, none had MEFV mutations according to ARMS.
Conclusion:
The ARMS assay is a rapid, cost-effective, and accurate method for detecting three common mutations in familial Mediterranean fever.
Insights
This study developed a rapid and accurate diagnostic test for familial Mediterranean fever (FMF). The amplification refractory mutation system (ARMS) assay effectively detects common MEFV gene mutations, aiding in FMF diagnosis.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Diagnostics
Background:
- Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder.
- FMF is characterized by recurrent episodes of fever, serositis, and arthritis.
- The MEFV gene mutations M680I, M694V, and V726A are common causes of FMF.
Purpose of the Study:
- To develop and validate a diagnostic test for FMF.
- Establish a reliable method for detecting key MEFV gene mutations.
Main Methods:
- A cross-sectional study involving 107 FMF patients, family members, and controls.
- Genomic DNA analysis using amplification refractory mutation system (ARMS) assay.
- ARMS assay results were validated against automated DNA sequencing.
Main Results:
- The ARMS assay accurately identified M680I, M694V, and V726A mutations in 82 individuals with confirmed mutations.
- The assay demonstrated high sensitivity and specificity, correctly identifying all mutation carriers and non-carriers.
- No false positives or negatives were reported in the validation cohort.
Conclusions:
- The amplification refractory mutation system (ARMS) assay is a rapid, cost-effective, and accurate diagnostic tool for FMF.
- This assay facilitates the detection of three common MEFV mutations.
- The ARMS assay can significantly aid in the clinical diagnosis of familial Mediterranean fever.
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