Library Science

A collection of cutting-edge methods for investigating and detecting a wide variety of hematological disorders. Here, the reader will find reliable molecular protocols for the diagnosis of Fanconi anemia and dyskeratosis congenita, immunodeficiency, and most forms of hemoglobinopathy. In addition, there are detailed methods for molecular human platelet antigen genotyping, an effective PCR procedure for thrombophilia screening, and protocols for fluorescent in situ hybridization. Since the measurement of minimal residual disease (MRD) provides a much more accurate risk-directed therapy, three methods are presented for detecting residual leukemia below the threshold of light microscopy, along with relatively simple, rapid, and cheap methods for the detection of MRD in ALL and AML.

Authors: Goulden, Nicholas J.; Steward, Colin G.

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Table of Contents

1. Molecular Diagnosis of Fanconi Anemia and Dyskeratosis Congenita (pp. 3-18)
   Tipping, Alex J.; Vulliamy, Tom J.; Morgan, Neil V.; Dokal, Inderjeet
2. Molecular Diagnosis of Diamond-Blackfan Anemia (pp. 19-30)
   Ball, Sarah; Orfali, Karen
3. Antenatal Diagnosis of Hemoglobinopathies (pp. 33-62)
   Old, John M.
4. Prenatal Diagnosis of Hemophilia (pp. 65-70)
   Stirling, David
5. Human Platelet Antigen Genotyping by PCR-SSP in Neonatal/Fetal Alloimmune Thrombocytopenia (pp. 71-78)
   Hurd, Colin; Lucas, Geoff
6. Multiplex PCR for the Detection of the Factor V Leiden and Prothrombin 20210A Mutations (pp. 79-88)
   Sproul, Anne M.; Chalmers, Elizabeth A.
7. Molecular Diagnosis of Congenital Immunodeficiency (pp. 91-108)
   Eastwood, David; Gilmour, Kimberly C.; Gaspar, Hubert B.
8. Molecular Techniques to Improve Outcome in Childhood ALL (pp. 111-122)
   van Delft, Frederik W.; Saha, Vaskar
9. Molecular Cytogenetics in Childhood Leukemia (pp. 123-138)
   Harrison, Christine J.; Kempski, Helena; Hammond, David W.; Kearney, Lyndal
10. Fluorescent IgH Fingerprinting to Assess Minimal Residual Disease in Childhood B-Lineage ALL (pp. 139-150)
    Evans, Paul A. S.; Owen, Roger G.
11. Real-Time Quantitative RT-PCR to Detect Fusion Gene Transcripts Associated With AML (pp. 151-174)
    Flora, Rajinder; Grimwade, David
12. Real-Time PCR to Detect Minimal Residual Disease in Childhood ALL (pp. 175-182)
    Eckert, Cornelia; Landt, Olfert
13. Oligonucleotide Microarray Analysis of Gene Expression in Leukemia (pp. 183-196)
    van Delft, Frederik W.; Jones, Louise K.
14. HLA Low-Resolution Genotyping for Hematopoietic Stem Cell Transplantation (pp. 199-232)
    Harvey, John; Price, Jenny; Stanton, Ahna
15. DNA Sequencing as a Tissue-Typing Tool (pp. 233-246)
    Dunn, Paul P. J.; Day, Sarinder; Williams, Siaron; Bendukidze, Nina
16. Analysis of Chimerism After Stem Cell Transplantation (pp. 247-264)
    Bader, Peter; Kreyenberg, Hermann

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