Handbook of Gene Level Diagnostics in Clinical Practice provides an overview of the latest representative world literature available on gene level evaluation of human inherited and acquired diseases. The relative merits and limitations of molecular biological techniques (DNA ploidy, cytogenetic, hybridization and restriction analyses, PCR) for the evaluation of gene expression for patient management including quality control issues are critically discussed. Current views on aging, DNA repair, DNA methylation, repetitive DNA, genomic imprinting, mitochondrial DNA and drug resistance as well as efforts of the Human Genome Project are summarized to emphasize their importance to disease evaluation at the gene level. Main topics include prenatal diagnosis identity testing, tumors of various organs, inherited conditions, and infectious and hematological diseases.
The broad perspective of Handbook of Gene Level Diagnostics in Clinical Practice makes it an essential reference on gene-level diagnostics for professionals in biology, medicine, and biotechnology. Students should consider it as an excellent supplementary volume for courses dealing with medico-biological issues at the gene level.
"…a must-have for all medical professionals…a beautiful job of distilling a tremendous amount of literature into a very concise and readable text."
Patricia D. Murphy, Ph.D.
Director of Laboratory Operations, Genica Pharmaceuticals Corporation
"The Handbook if the first truly comprehensive overview of all aspects of DNA diagnostics to appear in a field whose diverse and sometimes isolated practitioners desperately need such a unifying intellectual approach."
WAYNE W. GRODY, M.D., PH.D., UCLA SCHOOL OF MEDICINE
THE NEW ENGLAND JOURNAL OF MEDICINE
CONTENT: General Aspects of Gene Level Evaluation: Survey of Techniques and Application: Introduction. A Survey of Newer Gene Probing Techniques. Prenatal Diagnosis. Aging. DNA Repair. Drug Resistance. Metastasis. Gene Level Evaluation of Selected Disorders of the Heart, Lung, Gastrointestinal Tract, and Tumors of the Head and Neck: Atherosclerosis and Coronary Heart Disease. Gastrointestinal Diseases. Hepatocellular Carcinoma. Pancreas. Cystic Fibrosis. Lung. Tumors of the Head and Neck. Gene Level Evaluation of Selected Breast, Gynecologic and Urologic Tumors: Breast. Tumors of the Uterine Cervix and Endometrium. Ovarian Neoplasms. Prostate Neoplasms. Kidney and Urinary Bladder. Wilms' Tumor. Gene Level Evaluation of Selected Endocrine Disorders: Diabetes Mellitus. Thyroid and Parathyroid Disorders. Adrenal Gland and Multiple Endocrine Neoplasia 1 and 2. Gene Level Evaluation of Selected Neurologic and Connective Tissue Disorders: Muscle, Bone, and Skin Disorders. Neurologic and Mental Disorders. Gene Level Analysis of Selected Infectious Diseases: Molecular Biological Tools for Analysis of Infections. Enteric Pathogens. Respiratory Pathogens. Sexually Transmitted Diseases. Pathogens Causing Multisystem Infections. Pathogens Transmitted by Arthropods. Parasites. Selected Aspects of Gene Level Evaluation in Hematology: Hemoglobinopathies. Coagulopathies. Lymphoid and Myeloid Malignancies. Index.