Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Serum-Amyloid A Apolipoprotein

Das SAA1-Gen kodiert ein Serum-Amyloid A Apolipoprotein, welches ein wichtiges Akutphaseprotein ist. Variationen in diesem gen sind mit besonders schweren Verläufen des familiären Mittelmeerfieber assoziirt worden.

Interpretation

Die SAA1 Codonpositionen 70 und 75 müssen gemeinsam betrachtet werden. da sie eng beieinander liegen werden sie meist gemeinsam vererbt. Folgende Allele werden gefunden: alpha c.[209C>T;224T>C], p.[A70V;V75A], beta c.[209C;224T], p.[A70;V75], gamma c.[209C;224T>C], p.[A70;V75A]. Mit dem letztgenannten Allel besteht eine signifikante Erhöhung des Risikos für eine AA-Amyloidose im Rahmen einer rheumatischen Erkrankung.[1]

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
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.

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2.

Lundmark K et al. (2002) Transmissibility of systemic amyloidosis by a prion-like mechanism.

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3.

Svatikova A et al. (2003) Serum amyloid a in obstructive sleep apnea.

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4.

Beach CM et al. (1992) Human serum amyloid A protein. Complete amino acid sequence of a new variant.

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5.

Betts JC et al. (1991) The human acute-phase serum amyloid A gene family: structure, evolution and expression in hepatoma cells.

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6.

Kluve-Beckerman B et al. (1991) Nonexpression of the human serum amyloid A three (SAA3) gene.

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7.

Kluve-Beckerman B et al. (1991) Characterization of an isoelectric focusing variant of SAA1 (ASP-72) in a family of Turkish origin.

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8.

Sack GH et al. (1989) Molecular analysis of the human serum amyloid A (SAA) gene family.

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9.

Strachan AF et al. (1989) Human serum amyloid A protein. The assignment of the six major isoforms to three published gene sequences and evidence for two genetic loci.

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10.

Kluve-Beckerman B et al. (1986) Localization of human SAA gene(s) to chromosome 11 and detection of DNA polymorphisms.

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11.

Kluve-Beckerman B et al. (1986) DNA sequence evidence for polymorphic forms of human serum amyloid A (SAA).

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12.

Sipe JD et al. (1985) Human serum amyloid A (SAA): biosynthesis and postsynthetic processing of preSAA and structural variants defined by complementary DNA.

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13.

Taylor BA et al. (1984) Genes for serum amyloid A proteins map to Chromosome 7 in the mouse.

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14.

Sack GH et al. () Molecular cloning of human genes for serum amyloid A.

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15.

Bausserman LL et al. (1980) Heterogeneity of human serum amyloid A proteins.

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16.

Bausserman LL et al. (1982) NH2-terminal analysis of four of the polymorphic forms of human serum amyloid A proteins.

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17.

Kluve-Beckerman B et al. (1995) Genes encoding human serum amyloid A proteins SAA1 and SAA2 are located 18 kb apart in opposite transcriptional orientations.

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18.

Baba S et al. (1995) A novel allelic variant of serum amyloid A, SAA1 gamma: genomic evidence, evolution, frequency, and implication as a risk factor for reactive systemic AA-amyloidosis.

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19.

Sellar GC et al. (1994) Organization of the region encompassing the human serum amyloid A (SAA) gene family on chromosome 11p15.1.

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20.

Watson G et al. (1994) Use of somatic cell hybrids and fluorescence in situ hybridization to localize the functional serum amyloid A (SAA) genes to chromosome 11p15.4-p15.1 and the entire SAA superfamily to chromosome 11p15.

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21.

Stevens G et al. (1993) A new negroid-specific HindIII polymorphism in the serum amyloid A1 (SAA1) gene increases the usefulness of the SAA locus in linkage studies.

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22.

Sellar GC et al. (1994) The human serum amyloid A protein (SAA) superfamily gene cluster: mapping to chromosome 11p15.1 by physical and genetic linkage analysis.

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