Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Serum amyloid A1

This gene encodes a member of the serum amyloid A family of apolipoproteins. As an acute phase protein it plays an important role in immune modulation. Variations in that gene have been reported in association with different clinical courses of familial mediteranean fever.

Interpretation

In the SAA1 gene the two codon positions 70 and 75 have to be considered as a union because they are inherited together. The following alleles can be found: alpha c.[209C>T;224T>C], p.[A70V;V75A], beta c.[209C;224T], p.[A70;V75], gamma c.[209C;224T>C], p.[A70;V75A]. The latter shows a preponderance to develop AA amyloidosis in patients with rheumatoid arthritis.[Error: Macro 'ref' doesn't exist]

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Familial mediterranean fever
MEFV
NOD2
SAA1
TNFRSF1A

References:

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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Update: Sept. 26, 2018