Recent Advances In Human Genetics Research Articles

Genetics of skeletogenesis.

Major advances have been made in the last 10 years in the genetics of skeletogenesis. This has followed the general progress in our understanding of the genetic control of development in chicken and mouse and more recent advances in human genetics. This large field now encompasses three smaller but distinct fields of investigation. Those are skeleton patterning, cell differentiation in the skeleton, and cell function in the skeleton. This review focuses primarily on advances in understanding cell differentiation and cell function in the skeleton at the genetic level.

GENETIC COUNSELING IN PERINATAL MEDICINE

The obstetrician/perinatologist should be well informed about recent advances in human genetics that directly impact patient care. New indications for molecular analyses, specific limitations in their usage, and the need for interpretation of complex laboratory results emphasize the increasingly necessary clinical genetics consultation. The advent of DNA-based presymptomatic or predictive testing introduces dilemmas for patients and their families, and raises medical, legal, and ethical issues in genetic counseling.

From mutation mapping to phenotype cloning.

From mutation mapping to phenotype cloning.

Statistical Testing of Genetic Linkage Under Heterogeneity

Recent advances in human genetics have led to a renewed interest in statistical methods for the detection of linkage from family data--for example, between marker loci and disease traits. Statistical analysis of linkage between two loci is carried out almost exclusively by means of the lod (log-odds) score test, equivalent to a likelihood ratio test. The current practice is to declare genetic linkage between loci when the maximum lod score exceeds 3. As will be discussed here, the lod-score approach is not appropriate for the detection of linkage from heterogeneous data, e.g., when families consist of a mixture of linked and unlinked types. Heterogeneity may arise, for example, when rare mutations at different genetic loci are responsible for the same disease trait. As an alternative approach to account for possible heterogeneity in the detection of linkage, we propose the application of large-sample test statistics that are members of Neyman's class of C(alpha), or partial score tests. The convergence of the proposed test statistics to their asymptotic distributions is investigated via Monte Carlo simulation for typical study designs applicable in human genetics.

Interest in Genetic Testing for Colon Cancer Susceptibility: Cognitive and Emotional Correlates

Background. Recent advances in human genetics have led to the identification of markers for cancer susceptibility. Nevertheless, little is known about the public"s interest in clinical genetic testing for cancer-related markers. Methods. A random-digit-dial telephone survey of 401 adult residents of Utah was conducted during the summer of 1990. Respondents were randomized to one of three question frames and asked about their interest in a potential genetic test for colon cancer susceptibility. They were also asked to rate their risk for colon cancer, how often they worried about contracting any type of cancer, and how often they felt worried and nervous during the past year (trait anxiety). Results. Eighty-three percent of respondents expressed interest in genetic testing. Level of interest was most strongly correlated with perceived risk for colon cancer (r = 0.21, P < 0.001). Responses were not affected by the use of different question frames. Conclusions. These results show a high level of public interest in genetic testing for colon cancer susceptibility. The data also suggest that anxiety does not undermine interest, but future research must determine whether this relationship is limited to hypothetical judgments such as those studied here.

Recent Advances in Human Genetics

Recent Advances in Human Genetics

Recent Advances in Human Genetics

Recent Advances in Human Genetics

Reviews

Book reviewed in this article:Principles of Human Genetics. By Curt Stern.Variables Related to Human Breast Cancer. BY V. Elving Anderson, Harold O. Goodman, and Sheldon C. Reed.Practical Heredity with Drosophila. BY Gordon Haskell.Recent Advances in Human Genetics. Edited by L. S. Penrose with assistance of Helen Lang‐BrownReadings on Race. Edited by S. M. Garn.Human Races. By S. M. Garn.The Genetical Theory of Natural Selection. Second revised edition. By R. A. FISHER.Human Chromosomal Abnormalities. Edited by W. M. Davidson and D. Robertson SMITH.Medizinische Genetik. Eine Einführung in ihre Grundlagen und Probleme. By W. Lenz.Analisi Statistica per Medici e Biologi e Ancdisi del Dosaggio Biologico. By Luigi Cavalli‐Sforza.Sequential Medical Trials. By P. Armitage.

Recent Advances in Human Genetics

It is a happy duty to greet the publication of Dr. Penrose's latest contribution to the literature of genetics, a compact and concentrated, yet very readable compendium of recent advances in human genetics. In this volume, Penrose, the Galton Professor of Eugenics at the University College in London, treats several difficult subjects that are infrequently gathered into chapters in genetics texts because of the paragenetic position they occupy. For this purpose Prof. Penrose chose an excellent and well-qualified group of collaborators, evenly matched in skill of presenting difficult material in a comprehensive, yet concise and understandable fashion. D. G. Harnden, a frequent contributor to the Lancet , describes the recent advances in chromosome research. This is a valuable precis of our knowledge to date, with an excellent exposition of standard techniques employed as well as the practical application. Clinicians will find this the most useful summary of the subject; it may

Recent Advances in Human Genetics.

Perhaps more than other clinicians, the pediatrician is being called on offer genetic counseling. Basic his effectiveness is an acquaintance with available facts. Unfortunately, as even the casual journal reader can testify, such an acquaintance, hard enough initiate, is even more difficult maintain. With advances in biochemical genetics, chromosome anomalies, pedigree analysis, and so on, the science of genetics has taken on new life, new vigor, and developed new concepts. Professor Penrose's offering is intended supply the reader with selected and detailed presentations from the broad field of human genetics with enough advances to whet the reader's appetite for descriptions of other points of the subject elsewhere. In his own chapters, the editor depicts what is known of mutations as well as the broader topic, The genetics of growth and development. Both presentations achieve his specified aim of mental-appetite stimulation. Harnden reviews progress in chromosomal

Recent Advances in Human Genetics

Recent developments in special techniques and their application to the study of heredity in man have led to exciting advances in a field that has always been of interest to pediatricians. Dr. Penrose has attempted to bring together in this small volume enough advances to "whet the readers' appetite for descriptions of other parts of the subject elsewhere." By design, a consideration of developments in human biochemical genetics, with exception of the hemoglobins, has been omitted. Included in eight chapters are discussions, by six distinguished contributors in addition to the editor, that are concerned not only with new knowledge in the areas of chromosomes, hemoglobins and linkage, but also with the elucidation of the cytologic, biochemical and statistical techniques that have made these advances possible.

Recent Advances in Human Genetics

Recent Advances in Human Genetics

Human Genetics

Recent Advances in Human Genetics Edited by Prof. L. S. Penrose, with the assistance of Helen Lang Brown. Pp. vii + 194. (London: J. and A. Churchill, Ltd., 1961.) 27s. 6d. net.

Reviews

Recent Advances in Human Genetics. Edited by L. S. Penrose and Helen Lang Brown. J. A. Churchill, London. 1961. Pp. 194. 27s. 6d.