Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis

Thrombosis and Haemostasis

Volumn 94, Issue 3, 2005, Pages 661-664

  Tizzano, Eduardo F ^a   Barceló, María J ^b   Baena, Manel ^b   Cornet, Mónica ^b   Venceslá, Adoración ^b   Mateo, José ^b   Fontcuberta, Jordi ^b   Baiget, Montserrat ^b  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b NONE

Author keywords

Carrier detection; Deletions; Factor VIII gene; Haemophilia A; Quantitative analysis; Real time PCR

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ALLELE; ANALYTICAL EQUIPMENT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY STUDY; FEMALE; GENE DELETION; GENE DUPLICATION; GENE TECHNOLOGY; HEMOPHILIA A; HETEROZYGOTE DETECTION; HUMAN; MALE; MONITORING; PATHOLOGY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RELIABILITY;

BASE SEQUENCE; EXONS; FACTOR VIII; FEMALE; GENETIC SCREENING; HEMOPHILIA A; HETEROZYGOTE DETECTION; HUMANS; MALE; ORGANIC CHEMICALS; PEDIGREE; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; SEQUENCE DELETION;

EID: 24944584171     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH05-03-0144     Document Type: Article

References (11)

1. Antonarakis SE, Rossiter JP, Young M et al. Factor VIII gene inversions in severe haemophilia A: results of an International Consortium study. Blood 1995; 86: 2206-12.
2. Bagnall RD, Waseem N, Green P et al. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A. Blood 2002; 99: 168-74.
3. HAMSTeRS, http://europium.csc.mrc.ac.uk.
4. Peake I.R., Lillicrap D.P, Boulyjenkov V et al. Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis. Blood Coagul Fibrinolysis 1993; 4: 313-44.
5. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 1989; 6: 1215.
6. Tizzano E, Venceslá A, Cornet M et al. Utility of a (GT)n dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia a carrier diagnosis. Haemophilia 2005; 11: 142-4.
7. David D, Moreira I, Lalloz MRA et al. Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism. Blood Coagul Fibrinolysis 1994; 5: 257-64.
8. Cusco I, Barceló MJ, Baiget M et al. Implementation of SMA carrier testing in genetic laboratories: Comparison of two methods for quantifying the SMN1 gene. Hum Mutat 2002; 20: 452-9.
9. Joncourt F, Neuhaus B, Jostarndt-Foegen K et al. Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR. Hum Mutat 2004; 23: 385-91.
10. Costa C, Jouannic JM, Stieltjes N et al. Quantitative Real-Time PCR Assay for rapid identification of deletion carriers in hemophilia. Clin Chem 2004; 50: 1269-7
11. Acquila M, Pasino M, Lanza T et al. Duplication of exon 13 causes one third of the cases of mild haemophilia A in Northern Italy. Haematologica 2004; 88: 758-9.