Fanconi Anemia

Clinical, Cytogenetic and Experimental Aspects

Traute M. Schroeder-Kurth, Arleen D. Auerbach, Günter Obe (Herausgeber)

Buch | Softcover

XX, 264 Seiten

2011
Springer Berlin (Verlag)
978-3-642-74181-4 (ISBN)

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Sixty years ago, G. Fanconi published a paper entitled: "Familiiire infantile pemiziosaartige Aniimie (pemizioses Blutbild und Konstitu tion)", in which he reported that this type of severe aplastic anemia represents a hereditary disease distinct from other pancytopenias of childhood (Fanconi 1927). Later this syndrome was named Fan coni anemia (FA; van Leeuwen 1933). A more recent study of the genetics of FA confirmed that the syndrome is inherited in an au tosomal recessive manner (Schroeder et al. 1976). Prenatal diagno sis in FA families showed that about 25% of fetuses are affected (Auerbach et al. 1985, 1986). In 1964, Schroeder et al. discovered high frequencies of chro mosomal aberrations in cultured peripheral blood lymphocytes from patients with FA. Schuler et al. (1969) reported that cells from FA patients are particularly sensitive to the chromosome-breaking activity or clastogenic effect of a polyfunctional alkylating agent. Since that time, studies of baseline and induced frequencies of chromosomal aberrations have been used for the identification of patients with FA. There is now a large body of data concerning the possible mechanism(s) underlying the hypersensitivity of FA cells to DNA cross-linking agents, the biochemical basis for which is still unknown. Complementation analysis, using cells from different FA pa tients, has demonstrated genetic heterogeneity in the syndrome.

I Clinical and Therapeutical Aspects.- International Fanconi Anemia Registry: First Report.- Fanconi Anemia in The Netherlands.- Clinical Aspects of a Cluster of 42 Patients in South Africa with Fanconi Anemia.- Therapeutic Aspects of Fanconi Anemia.- Bone Marrow Transplantation for Fanconi Anemia.- II Spontaneous and Induced Chromosomal Breakage for Diagnosis of Patients with Fanconi Anemia and Their Relatives.- Diepoxybutane Test for Prenatal and Postnatal Diagnosis of Fanconi Anemia.- Chromosomal Breakage in Response to Cross-linking Agents in the Diagnosis of Fanconi Anemia.- Cytogenetic Studies in Fanconi Anemia: Induced Chromosomal Breakage and Cytogenetics of Leukemia.- Aplastic Anemia and Fanconi Anemia: Response of Lymphocytes to X-Rays and Mitomycin C.- Variation in Cellular Sensitivities Among Fanconi Anemia Patients, Non-Fanconi Anemia-Patients, Their Parents and Siblings, and Control Probands.- Significance of Cellular Sensitivity in a Group of Parents of Fanconi Anemia Patients.- Chromosomal Studies in Fanconi Anemia Heterozygotes.- III Investigations of the Defect in Fanconi Anemia Cells.- BrdU-Hoechst Flow Cytometry Links the Cell Kinetic Defect of Fanconi Anemia to Oxygen Hypersensitivity.- Oxygen Metabolism and Chromosomal Breakage in Fanconi Anemia.- Cellular Effects of Fanconi Anemia Genes and Their Correction by Microinjection.- Phenotypic and Genetic Heterogeneity in Fanconi Anemia, Fate of Cross-Links, and Correction of the Defect by DNA Transfection.- IV Complementation Studies in Fanconi Anemia.- Complementation Studies in Fanconi Anemia.- Complementation and Gene Transfer Studies in Fanconi Anemia.- Complementation Studies in Fanconi Anemia Using Cell Fusion and Microinjection of mRNA.- V Fanconi Anemia: The Family's Point of View.- FanconiAnemia: The Family's Point of View.

Erscheint lt. Verlag	10.12.2011
Zusatzinfo	XX, 264 p.
Verlagsort	Berlin
Sprache	englisch
Maße	170 x 244 mm
Gewicht	501 g
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete
Themenwelt	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
Schlagworte	anemia • Bone marrow • Cell • Chromosom • cytogenetics • DNA • genes • Genetics • leukemia • Lymphocytes • Metabolism • Transplantation
ISBN-10	3-642-74181-9 / 3642741819
ISBN-13	978-3-642-74181-4 / 9783642741814
Zustand	Neuware