Journal of Heredity Advance Access originally published online on September 19, 2006
Journal of Heredity 2006 97(5):538-539; doi:10.1093/jhered/esl021
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Book Reviews |
First Years of Human Chromosomes. The Beginning of Human Cytogenetics
First Years of Human Chromosomes. The Beginning of Human CytogeneticsPeter S. Harper.
Scion Publishing Ltd., Bloxham, UK, 2006. ISBN 1 904842 240. $ 59.00.
Everyone who works in human cytogenetics should own and have read this book. It is a most accurate and comprehensive review of how the field started, how it developed, and it tells of the people who were the main contributors to this then developing science. It also includes fascinating vignettes of the principal actors of this fascinating field that was truly the beginning of human genetics as we know it today.
The book is accompanied by a disk that contains the actual interviews that Harper compiled after speaking to the surviving members of this elite group of investigators. The disk is very well produced and fun to listen to.
The 180-page book is divided into 9 chapters and some notable appendices. It first reviews in some detail the "state of the art" before 1956 and next Harper discusses the revolutionary discovery of man having 46 rather than 48 chromosomes. It is filled with anecdotes of how the early assumption of 2n = 48 was derived and how tortuous the path was to correct the number to 2n = 46. Of course, the technical improvements with hypotonic solution (T.C. Hsu) that laid the groundwork are succinctly reviewed, as are the extensive and much earlier publications by mostly unknown Russian investigators that were subsequently suppressed. In addition, the revolutionary finding of the Barr body and its history are encompassed by the author, and, most importantly, many of the original articles are reprinted in this book, aside from comprehensive references. There is also a fascinating discussion of how it came to be that many of the early discoveries were published in The Lancet and in Comptes Rendus Academie des Sciences (Paris). Then follows a detailed discussion of "mongolism" and the discovery of trisomy 21, and this includes some remarks on how the tissues were obtained for these studies, the problems of privacy, and surgical techniques. There then follows a detailed history of the abnormalities of sex chromosomes and finally comes a discussion of the identification of other autosomal trisomies, mostly accomplished by various, and largely European, scientists. David Carr is credited with the exploration of chromosomal anomalies of abortions, Makino's molar studies are highlighted, etc. Many current workers will also not know how phytohemagglutinin came to be "invented," as is so lucidly detailed in a presentation of studies in leukemia by Peter Nowell and others, and also cancer cytogenetics is a part of that story.
In a chapter on the "Technology and nomenclature: the next steps, 1960," Harper reviews details of the Denver Convention, how banding inventions came about and even comes to present briefly the later and more recent years with fluorescent in situ hybridization and newer techniques that are now commonplace in the cytogenetic armamentarium of human genetics.
As a person who has lived through this era and has come to know most of the persons involved in this spectacular development, I was most delighted to see pictures of the principal scientists who forged this developing science and read their historical vignettes. Harper interviewed many of these scientists and summarizes their recollections in italics, as well of course in the content of the disk. This is a welcomed book as it clearly reviews all pertinent information made in the now common studies of human chromosomes. It is extremely readable and highly recommended.
Department of Pathology, University of California-San Diego Medical Center, 200 West Arbor Drive, San Diego, CA 92103
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