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A novel MEFV gene mutation (A511V) in a chilean FMF patient
Joint Authors
Akar, Najat
Ozturk, Aysenur
Arslan, Cigdem
Taucher, Silvia Castillo
Passalacqua, Cristobal
Akar, Ece
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 12, Issue 1 (30 Jun. 2011), pp.21-24, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2011-06-30
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Familial Mediterranean fever (FMF) is an autosomal recessive disease which is characterized by recurrent fever and inflammation of serous membranes.
A Chilean FMF patient was investigated for MEFV mutations.
After DNA extraction, exons 3, 5, 10 and 30UTR region of MEFV gene were analyzed by DNA sequencing while E148Q and R202Q mutations of exon 2 were detected by RFLP.
A novel missense mutation, A511V (c.1532C > T, p.Ala511Val), was found in a heterozygous state in exon 5 of MEFV gene.
Also, R202Q (c.605G > A, p.Arg202Gln) was detected in heterozygous state.
R202Q was of clinical value in the diagnosis of FMF when combined with a disease causing mutation.
In this patient, A511V was detected in compound heterozygous state with R202Q and this association may play an important role in FMF.
American Psychological Association (APA)
Akar, Najat& Ozturk, Aysenur& Arslan, Cigdem& Akar, Ece& Taucher, Silvia Castillo& Passalacqua, Cristobal. 2011. A novel MEFV gene mutation (A511V) in a chilean FMF patient. The Egyptian Journal of Medical Human Genetics،Vol. 12, no. 1, pp.21-24.
https://search.emarefa.net/detail/BIM-380257
Modern Language Association (MLA)
Akar, Najat…[et al.]. A novel MEFV gene mutation (A511V) in a chilean FMF patient. The Egyptian Journal of Medical Human Genetics Vol. 12, no. 1 (2011), pp.21-24.
https://search.emarefa.net/detail/BIM-380257
American Medical Association (AMA)
Akar, Najat& Ozturk, Aysenur& Arslan, Cigdem& Akar, Ece& Taucher, Silvia Castillo& Passalacqua, Cristobal. A novel MEFV gene mutation (A511V) in a chilean FMF patient. The Egyptian Journal of Medical Human Genetics. 2011. Vol. 12, no. 1, pp.21-24.
https://search.emarefa.net/detail/BIM-380257
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 23-24
Record ID
BIM-380257