PMID- 10612841
OWN - NLM
STAT- MEDLINE
DCOM- 20000120
LR  - 20161124
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 15
IP  - 1
DP  - 2000 Jan
TI  - MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.
PG  - 118-9
AB  - Familial Mediterranean fever (FMF) is a recessive inherited disorder affecting
      Sephardic Jews, Arabs, Armenians and Turks. The gene responsible for FMF was
      recently cloned and several disease-associated mutations have been described. We 
      have evaluated seven MEFV mutations in 460 chromosomes of 230 unrelated patients 
      with FMF living in Turkey, using PCR methods. The M694V allele accounted for
      43.5% of the alleles studied and 19.1% of the patients were homozygous. The
      M680I, V726A and M694I mutations were responsible for 12.0%, 11.1% and 2.8% of
      the patients respectively. R761H, K695R and E148Q were rarely encountered. Two
      thirds of the disease alleles were attributed to three common mutations: M694V,
      M680V and V726A, but only 54% of the patients carried one or two of the three
      mutations. Adding the four rarer mutations increased these figures to 72% and
      60%, respectively. Altogether, 79.6% of the patients bore at least one of the
      main mutations, and 84.3% carried at least one of the seven mutations studied.
      The 28 patients suffering also from amyloidosis carried at least one of five
      mutations, M694V being the most common. These results suggest that the origin of 
      FMF in Turkey is heterogenous, all common mutations are associated with
      amyloidosis. Further, rapid and accurate molecular diagnosis of FMF is feasible
      in most cases.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Akar, N
AU  - Akar N
AD  - Pediatric Molecular Pathology and Nephrology Departments, Ankara University,
      Ankara, Turkey.
FAU - Misiroglu, M
AU  - Misiroglu M
FAU - Yalcinkaya, F
AU  - Yalcinkaya F
FAU - Akar, E
AU  - Akar E
FAU - Cakar, N
AU  - Cakar N
FAU - Tumer, N
AU  - Tumer N
FAU - Akcakus, M
AU  - Akcakus M
FAU - Tastan, H
AU  - Tastan H
FAU - Matzner, Y
AU  - Matzner Y
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (MEFV protein, human)
RN  - 0 (Proteins)
RN  - 0 (Pyrin)
SB  - IM
MH  - Cytoskeletal Proteins
MH  - Familial Mediterranean Fever/*genetics
MH  - Humans
MH  - Mutation
MH  - Polymerase Chain Reaction
MH  - Proteins/*genetics
MH  - Pyrin
MH  - Turkey
EDAT- 1999/12/29 00:00
MHDA- 1999/12/29 00:01
CRDT- 1999/12/29 00:00
PHST- 1999/12/29 00:00 [pubmed]
PHST- 1999/12/29 00:01 [medline]
PHST- 1999/12/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU29>3.0.CO;2-5 [pii]
AID - 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU29>3.0.CO;2-5 [doi]
PST - ppublish
SO  - Hum Mutat. 2000 Jan;15(1):118-9. doi:
      10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU29>3.0.CO;2-5.