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 Tabelle zeigt die Häufigkeit der wichtigsten Missense Varianten.
rs1136743 |
NM_000331.5:c.209C>T |
NP_000322.2:p.A70V(GCC>GTC) |
T(V)=0.47989 |
rs1136747 |
NM_000331.5:c.224T>C |
NP_000322.2:p.V75A(GTG>GCG) |
T(V)=0.46655 |
rs557915415 |
NM_000331.5:c.232G>A |
NP_000322.2:p.D78N(GAT>AAT) |
A(N)=0.00013 |
rs79681911 |
NM_000331.5:c.269G>A |
NP_000322.2:p.G90D(GGT>GAT) |
A(D)=0.00205 |
Diese Missense-Variationen wurden in verschiedenen Kombinationen untersucht und für diese Kombinationen ist eine spezielle Nomenklatur generiert worden.
SAA1.1 |
70V;75A;78D;90G |
SAA1.2 |
70A;75V;78D;90D |
SAA1.3 |
70A;75A;78D;90G |
SAA1.4 |
70A;75V;78N;90G |
SAA1.5 |
70A;75V;78D;90G |
Die genannten Varianten zeigen ein hohes Maß an linkage disequilibrium und sollten deshalb immer in Kombination betrachtet werden. Dies trifft insbesondere für die Varianten an den Codonpositionen 70 und 75 zu. Wir unterschieden hier: alpha p.[A70V;V75A], beta p.[A70=;V75=], gamma p.[A70=;V75A]. Mit dem letztgenannten Allel besteht eine signifikante Erhöhung des Risikos für eine AA-Amyloidose im Rahmen einer rheumatischen Erkrankung.[Error: Macro 'ref' doesn't exist]
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Lundmark K et al. (2002) Transmissibility of systemic amyloidosis by a prion-like mechanism.
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2. |
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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3. |
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.
|
4. |
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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5. |
Sellar GC et al. (1994) Organization of the region encompassing the human serum amyloid A (SAA) gene family on chromosome 11p15.1.
|
6. |
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.
|
7. |
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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8. |
Bausserman LL et al. (1982) NH2-terminal analysis of four of the polymorphic forms of human serum amyloid A proteins.
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9. |
Bausserman LL et al. (1980) Heterogeneity of human serum amyloid A proteins.
|
10. |
None () Molecular cloning of human genes for serum amyloid A.
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11. |
Taylor BA et al. (1984) Genes for serum amyloid A proteins map to Chromosome 7 in the mouse.
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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. |
Kluve-Beckerman B et al. (1986) DNA sequence evidence for polymorphic forms of human serum amyloid A (SAA).
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14. |
Kluve-Beckerman B et al. (1986) Localization of human SAA gene(s) to chromosome 11 and detection of DNA polymorphisms.
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15. |
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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16. |
Sack GH et al. (1989) Molecular analysis of the human serum amyloid A (SAA) gene family.
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17. |
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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18. |
Kluve-Beckerman B et al. (1991) Nonexpression of the human serum amyloid A three (SAA3) gene.
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19. |
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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20. |
Beach CM et al. (1992) Human serum amyloid A protein. Complete amino acid sequence of a new variant.
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21. |
Svatikova A et al. (2003) Serum amyloid a in obstructive sleep apnea.
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22. |
Cazeneuve C et al. (2000) Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.
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23. |
NCBI article
NCBI 6288
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24. |
OMIM.ORG article
Omim 104750
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25. |
Orphanet article
Orphanet ID 330340
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Update: 14. August 2020