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Principles of Medical Genetics

Article  in  New England Journal of Medicine · January 1992

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Richard W Erbe
University at Buffalo, The State University of New York
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HUMAN
-MGENETICS
KEDUCATION

Am. J. Hum. Genet. 49:1129-1130, 1991

Principles of Medical Genetics. By Thomas D. Gelehrter and use. The two-tone print is both helpful and pleasant. The
Francis S. Collins. Baltimore: Williams & Wilkins, 1990. 3-inch outer page margins, sometimes used for figures or
Pp. 324. $34.95. tables but often available for notes, give the book a more
open feeling. Many of the diagrams are new and are out-
Gelehrter and Collins have produced an outstanding new standing in their clarity and information content. Although
book, the first fundamentally molecular textbook of medical the book is focused on basic genetics, there are plenty of
genetics. The book is organized into 12 chapters. After a clinical examples to interest students.
brief overview, the authors consider basic aspects of the The authors have shown excellent judgment in making
structure and behavior of genes and chromosomes. They the difficult choices needed to achieve balance of subject
move on to Mendelian inheritance and then address popula- matter in a book of manageable length. These choices have,
tion genetics and multfactorial inheritance in combination. however, left the coverage quite thin in certain areas; of the
The three chapters on basic molecular genetics and the mo- latter, probably the most important are Bayes's theorem and
lecular genetics of human disorders, as represented by the population genetics. The presentation of Bayes's theorem in
hemoglobinopathies and selected inborn errors of metabo- the genetic counseling section of chapter 11, although clear,
lism, are a highpoint. The chapters that follow address cyto- is so brief that few students will grasp its usefulness without
genetics, gene mapping and linkage, cancer genetics, and further exposure. Correspondingly, none of the problems
clinical genetics. The book concludes with a chapter on the at the end of chapter 11 require Bayes's theorem for their
future as reflected in the Human Genome Project, genetic solution. Combining population genetics with multifacto-
approaches to common diseases, and somatic gene therapy. rial inheritance is an interesting approach, but the former
Each chapter begins with an interesting and stimulating subject will need supplementation for most courses. The
quotation. Most chapters include tables (range 0-11 /chap- chapter on cytogenetics could be strengthened, for example,
ter, average 4/chapter) and figures (range 0-29, average 19) by including a discussion of the molecular basis for banding
consisting of diagrams and photographs. Most chapters are and of the relationship of genes to bands.
followed both by specific references (range 0-17, average 4) This first edition does have a smattering of errors involv-
relating to subjects addressed in that chapter and by more ing both the substance and the production of the book.
general suggested readings (range 0-18, average 7). Also Printing errors in three pedigrees and in one diagram were
provided are appropriate and interesting study questions corrected after the first printing. On page 165 the authors
(range 0-10, average 5), most of which require specific an- state that "when nondisjunction occurs in the second meiotic
swers, while the remaining questions are meant to stimulate division, the gametes will contain two identical copies of the
thought and discussion. Model answers to the study ques- same chromosome or neither." The copies of the chromo-
tions are available from the publisher. The final chapter is some are not identical, of course, since portions of one of
followed by a glossary containing 250 definitions. the chromatids will have exchanged with its homologue dur-
The book is well organized and easy to read. Headings ing the first meiotic division. In another instance, the sizes
are used to advantage. The index is complete and easy to of the segments exchanged in the reciprocal translocation

1129
 1130 Human Genetics Education Section

shown in figure 8.12 on page 169 are inconsistent, so the accomplishes this in a lucid, attractive, manageable-size vol-
chromosomal segments in the quadrivalent in this figure do ume at a reasonable price.
not match completely. RICHARD W. ERBE
Occasional presentations are unclear. The description of
the Sanger sequencing method, on page 87, is too cryptic, Genetics Division
both the text and the figure with its legend leaving unclear Children's Hospital
why and how a dideoxynucleotide forms the basis of this Buffalo
chain-termination method. Figure 8.20 on page 177 con- ) 1991 by The American Society of Human Genetics. All rights reserved.
fused me greatly, particularly in regard to the "gray bag." On 0002-9297/91 /4905-0033$02.00
page 186 the paragraph regarding the fragile-X syndrome is
poorly worded with regard to what "it" pertains to and what
aspect of the fragile-X syndrome occurs in 0.4/2,000 fe-
males.
The authors generally have been cautious in their state-
ments regarding rapidly evolving subjects. Occasionally this Am. J. Hum. Genet. 49:1130-1132, 1991
has led them to omit useful information. For example, on
page 212 we know more about the characteristics of muta-
tions causing Duchenne, as opposed to Becker, muscular Human Genetics. 2d ed. By John B. Jenkins. New York:
dystrophy than is indicated here. They were less cautious in Harper and Row, 1990. Pp. 544. $31.96.
regard to testis determination, however, and subsequently Human Heredity: Principles and Issues. 2d ed. By Michael
zfy has been replaced by sry as the genetic determinant of R. Cummings. St. Paul: West 1991. Pp. 500. $43.40.
testis development (p. 178). Human Genetics (HG) and Human Heredity (HH) are text-
I have not yet used this book for our own course, although books for use in a one-semester course with no college sci-
we have decided to do so this year. Seeking student reactions, ence prerequisites. Both are remarkably congruent in organi-
I consulted Dr. Peter Rowley, who used the book last spring zation. Each chapter begins with an outline of topics to be
in the University of Rochester's nearly 40-h course. He re- considered and is followed with an interesting passage to
ported that the students considered the book to be excellent capture the reader's attention and to serve as an indication of
and very "user friendly." He indicated that several students that chapter's relevance. After the body of a chapter (amply
found the book too advanced, however, and needed to go illustrated with effective graphics) are a list of key words,
to the Thompson and Thompson textbook for a simpler summaries of fundamental concepts, bibliographic refer-
treatment. On the other hand, some students wanted more ences, and problems. Answers to all questions and problems
detail and went elsewhere for more expanded presentations. appear in a back section. Both books contain glossaries
This distribution of student reactions confirms for me that (numbers of items defined: HG 325; HH 359). When first
the authors have pitched the book at approximately the right introduced, key words appear in boldface type. HH has the
level and leads me to expect very good acceptance of the additional feature of presenting short definitions of such
book by students. terms in the wide margins of its pages. HH also includes a
Although it is certainly not the only excellent textbook of three-and-a-half page chronology of developments in genet-
medical genetics, its appearance is certainly welcome. To ics, an appendix reviewing principles of probability, and a
state the matter briefly the fourth edition of Thompson and final chapter entitled "Genetics, Law, and Bioethics." Al-
Thompson's Genetics in Medicine is more clinically ori- though HH has fewer pages than HG, it contains more fac-
ented, covers a number of the traditional subjects in greater tual information, as permitted by its larger page size and
detail, and will probably be more readily comprehended smaller print.
by students with little background. The fourth edition of The physical appearance of the texts differs. The format
Sutton's An Introduction to Human Genetics is more biolog- of HH resembles that of most modern textbooks on life
ical in its approach and contains more detail in many areas. science. To provide versatility in graphics and accents, three
For some students, these and several other excellent texts colors-black and two shades of brown-are used in HH.
will be useful as alternatives and supplements to Gelehrter HH also includes two sections of colored plates (25 colored
and Collins's book. figures)-"Genetic Disorders in Society, History and Art"
The availability of this book reduces enormously the and "Genetics." I believe these inserts would have greater
growing amounts of supplemental molecular genetic mate- pedagogical effectiveness if textual discussion explained
rial that most of us, to supplement the texts heretofore avail- their relevance. Also, to temper the section's Eurocentrism,
able, have spent much time organizing and reproducing for this "gallery" would be enhanced by including material from
our own courses. Gelehrter and Collins's book either in- non-Western cultures; e.g., Moche depictions of congenital
cludes or touches on almost everything that medical geneti- anomalies in its ceramic huacos or Melanesian statues of
cists generally want first-year medical students to know and hermaphrodites. In harmony with encouraged trends, such

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