Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mittelmeerfieber-Gen

Das Mittelmeerfieber wird durch Mutationen in einem Gen ausgelöst, welches einen wichtigen Steuerungsprotein der angeborenen Immunität kodiert, auch unter Pyrin oder Marenostrin bekannt. Die Vererbung ist entweder dominant oder rezessiv.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Familiäres Mittelmeerfieber
MEFV
NOD2
SAA1
TNFRSF1A

Referenzen:

1.

Cazeneuve C et al. (2000) Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.

[^]
2.

Nadeau JH et al. (2001) Modifier genes in mice and humans.

[^]
3.

Booth DR et al. (1998) SAA1 alleles as risk factors in reactive systemic AA amyloidosis.

[^]
4.

Aksentijevich I et al. (1999) 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.

[^]
5.

Cazeneuve C et al. (1999) 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.

[^]
6.

Centola M et al. (2000) The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators.

[^]
7.

Chae JJ et al. (2000) Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial mediterranean fever.

[^]
8.

Papin S et al. (2000) Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus.

[^]
9.

Mansour I et al. (2001) Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.

[^]
10.

Schaner P et al. (2001) Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states.

[^]
11.

Livneh A et al. (2001) A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD).

[^]
12.

Touitou I et al. (2001) The spectrum of Familial Mediterranean Fever (FMF) mutations.

[^]
13.

Yilmaz E et al. (2001) Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.

[^]
14.

Mansfield E et al. (2001) The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.

[^]
15.

Kogan A et al. (2001) Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state.

[^]
16.

Gershoni-Baruch R et al. (2001) Familial Mediterranean fever: prevalence, penetrance and genetic drift.

[^]
17.

Medlej-Hashim M et al. (2001) Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations.

[^]
18.

Medlej-Hashim M et al. (2002) Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method.

[^]
19.

Gershoni-Baruch R et al. (2002) The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.

[^]
20.

Gershoni-Baruch R et al. (2002) Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability.

[^]
21.

Chae JJ et al. (2003) Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis.

[^]
22.

Gershoni-Baruch R et al. (2003) The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever.

[^]
23.

Shoham NG et al. (2003) Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.

[^]
24.

Aldea A et al. (2004) A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?

[^]
25.

El-Shanti H et al. (2006) Familial mediterranean fever in Arabs.

[^]
26.

Chae JJ et al. (2006) The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.

[^]
27.

Jalkh N et al. (2008) Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.

[^]
28.

Yu JW et al. (2007) Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants.

[^]
29.

Fragouli E et al. (2008) Familial Mediterranean Fever in Crete: a genetic and structural biological approach in a population of 'intermediate risk'.

[^]
30.

Grandemange S et al. (2009) Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay.

[^]
31.

Bonyadi M et al. (2009) MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.

[^]
32.

Bathelier C et al. (2010) Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients.

[^]
33.

Yuval Y et al. (1995) Dominant inheritance in two families with familial Mediterranean fever (FMF).

[^]
34.

et al. (1997) A candidate gene for familial Mediterranean fever.

[^]
35.

et al. (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.

[^]
36.

Babior BM et al. (1997) The familial Mediterranean fever gene--cloned at last.

[^]
37.

Chen X et al. (1998) Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF).

[^]
38.

Bernot A et al. (1998) Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

[^]
39.

Dewalle M et al. (1998) Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).

[^]

 

 
Ihre Nachricht: