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This volume was originally intended to be an English translation of
the book MetllOden in der medizinischen Cytogenetik, published in
1970. Just about then, however, a number of new techniques were
introduced in human cytogenetics and soon acquired the utmost
importance, parti cularly in clinical diagnosis, so that the
English edition had to be con siderably enlarged. As a result,
there are now twelve chapters instead of eight, and two additional
authors have been called upon, Dr. KRONE and Dr. SCHNEDL. In
addition to the up-to-date presentation of con ventional methods of
cell culture and techniques for the preparation and identification
of human chromosomes, this text covers the various tech niques of
producing banding patterns and applying them in chromo some
identification. Further, it deals with the culture of amniotic
fluid cells and gives instructions for handling tissue-culture
cells for bio chemical analysis; it thus meets the ever-increasing
requirements of a modern cell-culture laboratory. To paraphrase the
aims of this book, we quote part of the preface to the German
edition: "It was intended to collect the various methods so as to
make them accessible for laboratory use. Furthermore, it is hoped
that the reader faced with current research problems will be
stimulated to modify and supplement the techniques described,
instead of merely applying them automatically. In a rapidly
developing field, some methods are still preliminary, and no final
presentation seems possible."
The progress in Micromorphology and Biochemistry of the last
decades has led to a rather far reaching understanding of the
function of the genes. Much is also known about their morphological
organization within the cell, particularly their reduplication and
segregation in connection with the process of cell division. The
intensive light microscopic studies of the earlier cytological era
on cell division and chromosomes, which laid the basis for this
understanding are very comprehensively covered by WASSERMANN (1929)
in his masterly contribution "Wachstum und Vermehrung der
lebendigen Masse" in this handbook. There exist also many more
recent reviews on chromosomes and on cytogene tics (e. g. SWANSON,
1960; MAZIA, 1961; TURPIN and LEJEUNE, 1965; WmTEHousE, 1969;
HAMERTON, 1971; FORD, 1973). However, although some of them cover
the more recent findings in man, they have either had to rely on
more favorable species for detailed basic information or handled
cytogenetic problems from a more practical and clinical point of
view. Since moreover, the last few years have brought a flood of
new information on chromosomes due to new cytological techniques, a
new review on human chromosomes would seem justified within the
frame of this handbook. This review will be restricted to human
somatic chromosomes, i. e. it wi11leave out meiosis, and will
provide information on other species only if this seems necessary
for increased clarity."
Seit der Entdeckung, daB Chromosomenaberrationen die Ursache fiir
angeborene Entwicklungsstorungen beim Menschen sein konnen, gelang
es in den letzten 10 Jahren, immer mehr Krankheitsbilder cytogene-
tisch zu charakterisieren. Cytogenetische Methoden sind so zu einem
unentbehrlichen Instrument in der klinischen Diagnostik geworden.
Die Absicht des vorliegenden Buches ist es, diese viel- faltigen
Methoden zusammenzustellen und fur den Laboratoriumsgebrauch
ubersichtlich zuganglich zu machen. AuBerdem soll die Lektiire auch
an offene Probleme der Forschung heranfuhren und dazu an- regen,
die Methoden nicht nur schematisch nachzu- arbeiten, sondem standig
experimentell zu variieren und zu erganzen. Auf einem Gebiet, das
sich in einer so vielseitigen Entwicklung befindet, haben manche
Methoden allerdings einen noch vorlaufigen Charakter, und eine
abschlieBende Dbersicht ist nicht immer moglich. Es ist zu hoffen,
daB die von dem Buch ausgehenden Anregungen dazu beitragen werden,
die Methoden der menschlichen Cytogenetik zu bereichem. Bonn und
Freiburg i. Br., im Januar 1970 H. G. Schwarzacher U. Wolf v
Mitarbeiterverzeichnis Herausgeber: Professor Dr. HANS GEORG SCHW
ARZACHER Anatomisches Institut der Universitat 5300 Bonn NuBallee
10 Privatdozent Dr. ULRICH WOLF Institut fiir Humangenetik und
Anthropologie der Universitat 7800 Freiburg i.Br. AlbertstraBe 11
Mitarbeiter: Dr. WOLFGANG GEY U niversitats-Kinderklinik 8000
Miinchen 15 LindwurmstraBe 4 Professor Dr. SUSUMU OHNO Dept. of
Biology, City of Hope National Medical Center Duarte, CA 9lO10 /USA
Privatdozent Dr. EBERHARD PASSARGE Institut fiir Humangenetik der
Universitat 2000 Hamburg 20 MartinistraBe 52 Professor Dr. RUDOLF
ARTHUR PFEIFFER Institut fiir Humangenetik der Universitat 4400
Miinsteri. Westf.
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