Progress in Medical Genetics

THIS second volume of PROGRESS IN MEDICAL GENETICS New Series, well illustrates the diversity of subjects which falls within the purview of the medical geneticist. In keeping with previous volumes, there is a mixture of articles of clinical significance, mechanisms of disease and human variation. There are six reviews by a number of authorities. One of the most interesting topics is the review by D. J. H. Brock which deals with biochemical and cytological methods in the diagnosis of neural tube defects. In 1972 the author discovered the association of a raised amniotic fluid alphafetoprotein level with anencephaly. Since then the area has developed very rapidly indeed. He discusses the advantages and disadvantages of the measurement in the serum of women who have not had an affected child. Dr. Brock believes that the time is not far distant when every pregnancy may be profitably tested. One of the most intriguing problem in human immunology is the association between products of human major histocompatibility complex (HLA system) and diseases. Andrew McMichael and Hugh McDevitt contribute a comprehensive review of this subject. They provide a useful summary of published articles revealing frequencies of various HLA types in many diseases. In the past two decades there have been parallel advances in the biology and pharmacology of the affective disorders (mania and depression) and in genetic and family studies of these disorders. Chapter 3, provides an exhaustive review of the genetic predisposition to maniac depressive illness. The next article by H. H. Kazazian, Jr., S. Cho, and J. A. Phillips, describes advances in the description of disease at the level of changes in messenger RNA's, using the thalassemia syndromes. Some of the problems of lactase malabsorption are considered by G. Flatz and Hans W. Rotthauwe. The lactose polymorphism is one of the few genetic polymorphisms in man for which plausible hypotheses connecting the function of the biologically active gene product and the distribution of the genotypes has been put forward. The final review, by Patricia A. Jacobs, concerns the morphologic differences which exist between the homologues of certain human chromosomes. With the techniques of banding, many new heteromorphisms (variants) have been described. Classification, frequency, racial variation and clinical significance are dealt with. She forecasts that when objective methods of mensuration are available heteromorphisms will take their place alongside conventional blood group and enzyme polymorphisms as tools in formal and population genetics. Undoubtedly, this is a book for the specialist in medical genetics but will provide useful reference source for other specialists. The price £18.25 is such that probably only medical libraries will be able to put it on their shelves. N.C.N.