RGD Reference Report - Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds. - Rat Genome Database

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Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds.

Authors: Sacks, SH  Old, JM  Reeders, ST  Weatherall, DJ  Douglas, AS  Winter, JH  Rizza, CR 
Citation: Sacks SH, etal., J Med Genet. 1988 Jan;25(1):20-4.
RGD ID: 1599321
Pubmed: PMID:3162535   (View Abstract at PubMed)
PMCID: PMC1015416   (View Article at PubMed Central)

Using DNA probes in a structural study of the antithrombin III gene locus we found no evidence of gene deletion in two British kindreds with inherited antithrombin III deficiency. However, linkage analysis between a common DNA polymorphism and the antithrombin III deficiency trait showed that the defect lies at or close to the antithrombin III structural gene. The lod score for linkage within the larger Scottish kindred was 3.1 (theta = 0). These results are consistent with previously published data suggesting that mutation of the antithrombin III structural gene is the cause of inherited antithrombin III deficiency in some families.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
antithrombin III deficiency susceptibilityIAGP 1599321 RGD 
antithrombin III deficiency susceptibilityISOSERPINC1 (Homo sapiens)1599321; 1599321 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Serpinc1  (serpin family C member 1)

Genes (Mus musculus)
Serpinc1  (serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1)

Genes (Homo sapiens)
SERPINC1  (serpin family C member 1)


Additional Information