Is MEFVGene Arg202Gln (605 G>A) A Disease-Causing Mutation?

Ayşenur ÖZTÜRK; Birsin ÖZÇAKAR; Mesiha EKİM; Nejat AKAR

Article Details

Is MEFVGene Arg202Gln (605 G>A) A Disease-Causing Mutation?

Authors:

Ayşenur ÖZTÜRK | Birsin ÖZÇAKAR | Mesiha EKİM | Nejat AKAR

Publisher:

TUBITAK

Journal:

Turkish Journal of Medical Sciences 2008 Vol.38 Issue 3, pp.205-208

Document Type:

Article

Publication Date:

2/2008

Document Language:

Turkish

Document ID (Org No.):

2000755799

Frequency:

Bimonthly

eISSN:

1303-6165

pISSN:

1300-0144

Keywords:

Abstract:

 

Aim: Familial Mediterranean fever (FMF) is an autosomal recessive disease. Arg202Gln was reported as a  frequent polymorphism, and G allele of the mutation was in linkage disequilibrium with M694V. Thus, the aim  of this study was to determine the distribution of the R202Q (605G>A) mutation in exon 2 of the MEFVgene  in Turkish FMF patients and controls.  Materials and Methods: The study included 160 FMF and 41 FMF/amyloid patients and 121 controls.  Sequencing of exon 10 and exon 5 and PCR/RFLP analysis of E148Q and R202Q mutations of exon 2 of the  MEFVgene were performed for all patients according to previously described techniques.  Results: We found that 5 out of 76 M694V homozygote FMF patients carry a different haplotype from the  one expected. Eleven of the patients had homozygous GG allele indicating the second haplotype. None of the  121 controls was homozygous for R202Q (605G>A), but 8 controls were heterozygous for M694V mutation  and 5 (4.1%) of them were in linkage disequilibrium with R202Q.  Conclusions: It seems that R202Q has no effect when it is in heterozygous state; however, when combined  with another disease-causing mutation, the clinical spectrum appears. Thus, R202Q might be a disease-causing  mutation at least in some of the FMF patients.

 

Aim: Familial Mediterranean fever (FMF) is an autosomal recessive disease. Arg202Gln was reported as a  frequent polymorphism, and G allele of the mutation was in linkage disequilibrium with M694V. Thus, the aim  of this study was to determine the distribution of the R202Q (605G>A) mutation in exon 2 of the MEFVgene  in Turkish FMF patients and controls.  Materials and Methods: The study included 160 FMF and 41 FMF/amyloid patients and 121 controls.  Sequencing of exon 10 and exon 5 and PCR/RFLP analysis of E148Q and R202Q mutations of exon 2 of the  MEFVgene were performed for all patients according to previously described techniques.  Results: We found that 5 out of 76 M694V homozygote FMF patients carry a different haplotype from the  one expected. Eleven of the patients had homozygous GG allele indicating the second haplotype. None of the  121 controls was homozygous for R202Q (605G>A), but 8 controls were heterozygous for M694V mutation  and 5 (4.1%) of them were in linkage disequilibrium with R202Q.  Conclusions: It seems that R202Q has no effect when it is in heterozygous state; however, when combined  with another disease-causing mutation, the clinical spectrum appears. Thus, R202Q might be a disease-causing  mutation at least in some of the FMF patients.

Article Details

Is MEFVGene Arg202Gln (605 G>A) A Disease-Causing Mutation?

Authors:

Ayşenur ÖZTÜRK | Birsin ÖZÇAKAR | Mesiha EKİM | Nejat AKAR

Publisher:

TUBITAK

Journal:

Turkish Journal of Medical Sciences 2008 Vol.38 Issue 3, pp.205-208

Document Type:

Article

Publication Date:

2/2008

Document Language:

Turkish

Document ID (Org No.):

2000755799

Frequency:

Bimonthly

eISSN:

1303-6165

pISSN:

1300-0144

Familial Mediterranean fever (FMF)

amyloidosis

MEFVgene

R202Q

Issues

Article Details

Is MEFVGene Arg202Gln (605 G>A) A Disease-Causing Mutation?

Authors: Ayşenur ÖZTÜRK | Birsin ÖZÇAKAR | Mesiha EKİM | Nejat AKAR

Publisher: TUBITAK

Journal: Turkish Journal of Medical Sciences 2008 Vol.38 Issue 3, pp.205-208

Document Type: Article

Publication Date: 2/2008

Document Language: Turkish

Document ID (Org No.): 2000755799

Frequency: Bimonthly

eISSN: 1303-6165

pISSN: 1300-0144

Familial Mediterranean fever (FMF)

amyloidosis

MEFVgene

R202Q

Issues

Authors:

Ayşenur ÖZTÜRK | Birsin ÖZÇAKAR | Mesiha EKİM | Nejat AKAR

Publisher:

TUBITAK

Journal:

Turkish Journal of Medical Sciences 2008 Vol.38 Issue 3, pp.205-208

Document Type:

Article

Publication Date:

2/2008

Document Language:

Turkish

Document ID (Org No.):

2000755799

Frequency:

Bimonthly

eISSN:

1303-6165

pISSN:

1300-0144