Genetic Analysis of the X Chromosome - Henry F. Epstein

Genetic Analysis of the X Chromosome

Studies of Duchenne Muscular Dystrophy and Related Disorders
Buch | Softcover
203 Seiten
2012 | Softcover reprint of the original 1st ed. 1982
Springer-Verlag New York Inc.
978-1-4684-4348-6 (ISBN)
106,99 inkl. MwSt
The present volume contains the edited transcript of a collo­ quium sponsored by the Muscular Dystrophy Association and held at Mountain Shadows Inn, Scottsdale, Arizona, December 14-16, 1981. The participants, geneticists, molecular biologists, bio­ chemists and clinicians, explored in open dialogue ways and means of identifying and characterizing the genetic alterations responsible for X-linked muscular dystrophies, especially the Duchenne type. The clinicians, who urged the use of properly diagnosed and documented case material for study, emphasized the troublesome fact that the primary phenotypic expression of the gene (or genes) involved in the muscular dystrophies is yet to be identified. Discussions centered on the applicability of recent methodol­ ogical advances in DNA chemistry and molecular biology, cytogenetics and cell biology to mapping the X chromosome. Despite ignorance of the basic disorder in the muscular dystrophies, DNA technologies and chromosome mapping strategies for the discovery of genetic defects and phenotypic expressions were proposed. Beyond its stimulating intellectual exchange, the colloquium yielded important benefits. The participants agreed to share needed cell lines and endonuclease restriction enzymes and to organize interlaboratory communication and collaborative efforts to accelerate progress in the quest for the genetic lesion in Duchenne muscular dystrophy. The discussions were recorded, transcribed, edited and to some extent, rearranged to fit into a sequence of chapters. The editors are grateful to Joy Colarusso Lowe whose unusual skill, patience and persistence made it possible to convert a highly specialized technical discussion into a coherent manuscript.

1 Prevalence and Heritability of Duchenne Muscular Dystrophy.- 2 Cloning for an Unknown Gene.- 3 DNA Probes: Development of Libraries.- 4 Mapping the X Chromosome.- 5 Special Problems of Polymorphisms.- 6 Strategies of Approach to Duchenne Muscular Dystrophy.- References.

Reihe/Serie Advances in Experimental Medicine and Biology ; 154
Zusatzinfo XVIII, 203 p.
Verlagsort New York, NY
Sprache englisch
Maße 170 x 244 mm
Themenwelt Medizin / Pharmazie Medizinische Fachgebiete Pädiatrie
Studium 2. Studienabschnitt (Klinik) Humangenetik
Naturwissenschaften Biologie Biochemie
ISBN-10 1-4684-4348-8 / 1468443488
ISBN-13 978-1-4684-4348-6 / 9781468443486
Zustand Neuware
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