Assay of factor, IX antigen using an enzyme immuno assay

Parquet-Gernez, A; Mazutier, C.; Amiral, Jean; Martinoli, J.L.

doi:10.1016/0049-3848(84)90273-1

Cited by 7 publications

(3 citation statements)

References 21 publications

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“…Factor IX activity (FIX.C) was measured by a standard onestage clotting assay (Bowie et al 1971). Factor IX antigen was measured by an ELISA assay using the kit from Diagnostica Stago (Parquet-Gernez et al 1984).…”

Section: Methodsmentioning

confidence: 99%

T296?M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection

et al. 1991

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By direct genomic sequencing, we have delineated the causative mutation in 64 families of European decent with hemophilia B. Six (9%) had a C----T transition at base 31008, which substitutes methionine for threonine 296 (T296----M) in the catalytic domain of factor IX. Five of the patients had the same haplotype (frequency of 16% in the northern European population). These individuals are of Amish/German descent and they are likely to share a common ancestor. The sixth patient had a different haplotype, which indicates that his mutation had an independent origin. The data highlight the importance of clinical criteria for the classification of hemophilia B. All six patients had clinically mild disease and their factor IX coagulant activities were in the range of 3%-6% when tested simultaneously in one laboratory, yet the factor IX activities provided with patient records varied 40-fold. Due to the high frequency of this mutation, we have utilized the technique of polymerase chain reaction amplification of specific alleles (PASA) to perform rapid and inexpensive carrier diagnoses in the families with this mutation. This is of particular importance for the Amish since the mutation should account for much of, if not all, the mild hemophilia B that is commonly found in this population.

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Section: Methodsmentioning

confidence: 99%

T296?M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection

et al. 1991

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“…Factor IX:C was determined in an onestage clotting assay by standard methods. Factor IX antigen (F1X:Ag) levels were determined by an ELISA assay using the kit from Diagnostica Stago (Parquet-Gernez et al, 1984).…”

Section: Materials and Methods Subjectsmentioning

confidence: 99%

Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B

Dávid

Rosa

Pemberton³

et al. 1993

Hum. Mutat.

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In the present study, we report the application of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis to the screening of seven functionally important factor IX gene (FIX) regions (total length 2.66 kb) in 9 unrelated haemophilia B patients of Portuguese or African origin. In eight of the patients an altered migration pattern of single-stranded DNA was observed. Direct sequencing of the relevant DNA fragments unveiled the following sequence alterations: two novel mutations, namely FIXBarcelos Thr-380-Pro and FIXLousada 9bp insertion at position 31,309 or 31,318; five mutations previously reported in other ethnic groups (FIXPorto Arg-145-His, FIXLuanda Gly-207-Arg, FIXPenafiel Arg-248-Gln, FIXSesimbra Arg-333-Gln, FIXCascais Arg-333-Stop); and a normal variant, G-->T transvertion at position 6,596 in intron 2. We propose hypothetical models for the generation of the 9 bp duplication (FIXLousada). We have performed molecular modeling studies in order to predict the structure of the variant FIX molecules.

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“…Factor IX activity (FIXC) was measured by a one-stage method (13) and factor IX antigen (FIXAg) by ELISA using Asserachrom IX antigen (Diagnostica Stago-France) (14). Factor IX inhibitor was detected using the Bethesda method (15) with an incubation time of 30 min.…”

Section: Methodsmentioning

confidence: 99%

Incidence of Factor IX Inhibitor Development in Severe Haemophilia B Patients Treated with only one Brand of High Purity Plasma Derived Factor IX Concentrate

Laurian¹,

Rothschild²,

Navarro³

et al. 1999

Thromb Haemost

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SummaryFifteen previously untreated patients (Pups) with severe haemophilia B (factor IX activity ≤ 2 U/dl) only treated with one brand of plasma-derived high purity factor IX concentrate (FIX LFB) were studied. Age at first injection varied from 1 to 137 months and follow-up since this first injection from 21 to 86 months (median: 35). Cumulative exposure days (CED) were from 4 to over 100 (median: 26). Among these 15 Pups only one developed an inhibitor. Mutation analysis performed in all patients showed total gene deletion in the patient with inhibitor, partial gene deletion in another one, and missense mutations in 9 families. Mutation was not found in one patient. Actually, according to the data already published, only two patients were at high risk for inhibitor development in our population. Our study, although rather small, confirms the previously reported low incidence of inhibitors in haemophilia B. Large studies on incidence of FIX inhibitors are indeed difficult to perform, due to both the overall small number of severe haemophilia B patients and the low incidence of FIX inhibitors. Consequently, the impact of bias, such as prevalence of different types of gene defects in a given population, is major. Therefore, any study, dealing with incidence of FIX inhibitors in severe haemophilia B should report, for each patient, the type of gene defect.

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Assay of factor, IX antigen using an enzyme immuno assay

Cited by 7 publications

References 21 publications

T296?M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection

T296?M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection

Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B

Incidence of Factor IX Inhibitor Development in Severe Haemophilia B Patients Treated with only one Brand of High Purity Plasma Derived Factor IX Concentrate

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