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Carrier Detection and Prenatal Diagnosis of Hemophilia A

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Published/Copyright: June 1, 2005
Clinical Chemistry and Laboratory Medicine (CCLM)
From the journal Volume 39 Issue 12

Abstract

The aim of this study was to establish a simple, rapid carrier detection and prenatal diagnosis system for hemophilia A. Intron 22 inversion in FVIII gene was directly examined by long-distance polymerase chain reaction. Polymorphisms of factor VIII intragenic restriction fragment length polymorphism of Bcl I, short tandem repeat (STR) within intron 13 and 22, and extragenic DXS 52 (St 14) variable number tandem repeats (VNTR) loci were assessed by hereditary linkage analysis. The diagnostic rates for these loci were 47.6% (intron 22 inversion), 27.8% (Bcl I), 28.6% and 29.4% (STR within intron 13 and 22), and 81.3% (DXS52), respectively. The overall diagnostic rate in 21 families was 94.7%. The diagnosis in hemophilia A patients or carriers can be made if intron 22 inversion is present. The intragenic and extragenic loci hereditary linkage analysis could be used to establish the diagnosis in intron 22 inversion-negative patients.

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Published Online: 2005-06-01
Published in Print: 2001-12-07

Copyright © 2001 by Walter de Gruyter GmbH & Co. KG

Articles in the same Issue

  1. Contents
  2. Subject Index
  3. Author Index
  4. Summary of the 2nd Sino-European Congress of Laboratory Medicine
  5. Laboratory Diagnosis of Viral Hepatitis in China: The Present and the Future
  6. Molecular Diagnostics in China
  7. Detection of Usual and Atypical Aldehyde Dehydrogenase Alleles by Mismatch Amplification Mutation Assay
  8. Expression of Prostaglandin D Synthase in Ovarian Cancer
  9. Carrier Detection and Prenatal Diagnosis of Hemophilia A
  10. Detection of Oligoclonal Immunoglobulins in the Cerebrospinal Fluid by Immunofixation Electrophoresis
  11. 2nd Sino-European Congress of Laboratory Medicine – Strategies for Laboratory Diagnostics in Medicine
  12. The Problems and Strategy relevant to the Quality Management of Clinical Laboratories
  13. Computer Application to the Laboratory Management in Hospital
  14. The Basis of the Synovial Fluid Analysis
  15. Determination of Tumor Markers in Serum. Pitfalls and Good Practice
  16. Gas Chromatography-Mass Spectrometry Measurement of 6β-OH-Cortisol/Cortisol Ratio in Human Urine: A Specific Marker of Enzymatic Induction
  17. No Variation in Hsp70 mRNA Level during Cardiac Surgery in Pediatric Patients Evaluated by Semiquantitative RT-PCR
  18. Rapid Detection of Macroprolactin in tHe Form of Prolactin-Immunoglobulin G Complexes by Immunoprecipitation with Anti-human IgG-Agarose
  19. Molecular Characterization of Chromosome 22 Deletions by Short Tandem Repeat Polymorphism (STRP) in Patients with Conotruncal Heart Defects
  20. A Simple and Rapid Analysis of Triplet Repeat Diseases by Expand Long PCR
  21. The Effects of Peroxynitrite on Erythrocytes
  22. The Use of Hirudin as Universal Anticoagulant in Haematology, Clinical Chemistry and Blood Grouping
  23. Comparison of Different Immunoassays for CA 19-9
  24. The Evaluation of Analytical Performance of the Precision G Point-of-Care Glucometer
  25. On Painting and Philosophy: Sir Henry Raeburn
  26. Acknowledgement
  27. Meetings and Awards
https://doi.org/10.1515/CCLM.2001.191

Articles in the same Issue

  1. Contents
  2. Subject Index
  3. Author Index
  4. Summary of the 2nd Sino-European Congress of Laboratory Medicine
  5. Laboratory Diagnosis of Viral Hepatitis in China: The Present and the Future
  6. Molecular Diagnostics in China
  7. Detection of Usual and Atypical Aldehyde Dehydrogenase Alleles by Mismatch Amplification Mutation Assay
  8. Expression of Prostaglandin D Synthase in Ovarian Cancer
  9. Carrier Detection and Prenatal Diagnosis of Hemophilia A
  10. Detection of Oligoclonal Immunoglobulins in the Cerebrospinal Fluid by Immunofixation Electrophoresis
  11. 2nd Sino-European Congress of Laboratory Medicine – Strategies for Laboratory Diagnostics in Medicine
  12. The Problems and Strategy relevant to the Quality Management of Clinical Laboratories
  13. Computer Application to the Laboratory Management in Hospital
  14. The Basis of the Synovial Fluid Analysis
  15. Determination of Tumor Markers in Serum. Pitfalls and Good Practice
  16. Gas Chromatography-Mass Spectrometry Measurement of 6β-OH-Cortisol/Cortisol Ratio in Human Urine: A Specific Marker of Enzymatic Induction
  17. No Variation in Hsp70 mRNA Level during Cardiac Surgery in Pediatric Patients Evaluated by Semiquantitative RT-PCR
  18. Rapid Detection of Macroprolactin in tHe Form of Prolactin-Immunoglobulin G Complexes by Immunoprecipitation with Anti-human IgG-Agarose
  19. Molecular Characterization of Chromosome 22 Deletions by Short Tandem Repeat Polymorphism (STRP) in Patients with Conotruncal Heart Defects
  20. A Simple and Rapid Analysis of Triplet Repeat Diseases by Expand Long PCR
  21. The Effects of Peroxynitrite on Erythrocytes
  22. The Use of Hirudin as Universal Anticoagulant in Haematology, Clinical Chemistry and Blood Grouping
  23. Comparison of Different Immunoassays for CA 19-9
  24. The Evaluation of Analytical Performance of the Precision G Point-of-Care Glucometer
  25. On Painting and Philosophy: Sir Henry Raeburn
  26. Acknowledgement
  27. Meetings and Awards
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