Medical Genetics - V. M. Zaporozhan 2005

Preface

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Dear Reader,

Odesa State Medical University continues the publication of its new series of educational literature—the "Medical Student's Library."

As we build an independent Ukraine and care for our future, we must strive to preserve and enrich our historical, cultural, and scientific heritage for generations to come. A good book is the best tool for this purpose. However, there were several other reasons that motivated us to undertake this work.

First, there is an insufficient quantity and quality of modern textbooks published in the national language. Therefore, we aimed to create a series of textbooks and learning guides that would combine classic insights from various fields of medicine with the latest advancements and the extensive expertise of our leading specialists.

Second, in recent years, curricula and standard syllabi have introduced a wide range of new disciplines and courses for which no textbooks previously existed.

Third, we believe that Odesa State Medical University, which celebrated its centenary in 2000, is uniquely positioned to create a series of original textbooks and learning guides. After all, it serves as the core around which numerous medical schools and specialties have formed, led by prominent physicians whose authority is recognized not only in Ukraine but also in many countries worldwide.

We hope that this series will make a significant contribution to the advancement of medicine and the training of healthcare professionals.

Over the past 10–15 years, revolutionary discoveries in molecular biology and genetics have made it possible to study the Etiology AND Pathogenesis of the most common human diseases at the molecular-genetic level, develop highly sensitive diagnostic Methods, and establish approaches for the Treatment and Prevention of human pathologies.

Today, our understanding of the Structure and functioning of the mammalian genome has expanded significantly. The laws of classical genetics have been supplemented with data on Genomic Imprinting, uniparental disomy, isodisomy, and the subtle mechanisms of Gene activity regulation in human ontogeny; furthermore, the genomes of humans and several mammals have been sequenced. These and other discoveries have laid a practical foundation for developing pathogenetic and etiotropic treatments for hereditary human pathologies, as well as for the further progress of fields such as oncogenetics, Pharmacogenetics, and Ecogenetics. Technologies developed at the intersection of computer science and Molecular Genetics—so-called microarray technologies—are becoming increasingly widespread. Our understanding of the genetic component in the etiology of Multifactorial Diseases, which account for the largest share of overall human morbidity, has also expanded considerably. The Study of susceptibility genes for multifactorial diseases opens up fundamentally new opportunities for their Diagnosis, prevention, and etiotropic treatment.

The textbook "Medical Genetics" was authored by a team of specialists for senior students at medical universities enrolled in the specialties "General Medicine" (7.110101), "Pediatrics" (7.110104), and "Preventive Medicine" (7.110105) within the field of study 1101 "Medicine." It complies with the requirements of the Educational and Qualification Characteristics (EQC) and the Educational and Professional Programme (EPP) for specialist training, approved by the Order of the Ministry of Education and Science of Ukraine No. 239 dated 16.04.03, as well as the requirements of the Bologna Process.

The main objective of this textbook is to present contemporary views on the etiology and pathogenesis of Hereditary diseases and disorders with a hereditary predisposition in the most accessible format possible, while outlining the fundamental principles of diagnosing, preventing, and treating these conditions. It should be emphasized that all chapters of the textbook are clearly structured in accordance with the medical genetics curriculum, allowing students to navigate various topics with ease. The book is richly illustrated with figures, diagrams, and tables, which greatly facilitates the comprehension of the educational material. Each chapter concludes with Self-Assessment Questions and an ample supply of test items designed to meet the requirements of the "Krok-2" exam. A concise Glossary of Genetic terms is provided at the end of the book. All of the above will not only significantly ease students' preparation for classroom sessions but also promote the effective mastery of the material during independent study throughout the module.

The book consists of 11 chapters. Chapter 1 defines the subject matter and tasks of medical genetics, outlines the main milestones of its history, and briefly presents the molecular and Cytological Foundations of Heredity. Chapter 2 is devoted to the Etiology of Hereditary Diseases and disorders with a hereditary predisposition, drawing attention to deviations from classical laws of heredity—namely, Non-Mendelian Inheritance in Humans.

Chapters 3 and 4 focus on the principles of patient examination from the perspective of clinical genetics. Special attention is paid to describing the patient's phenotype using specific terminology, including microanomalies and Congenital Malformations frequently encountered in hereditary pathologies. The Role of the Clinical-Genealogical Method in Genetic Counseling is explored, accompanied by Examples of pedigrees with various inheritance patterns.

Chapters 5 and 6 provide a General Overview of human chromosomal and Monogenic Diseases, approaches to their diagnosis, treatment, and prenatal screening, as well as the principles of genetic counseling.

Chapter 7, "Multifactorial Diseases," In addition to a general characterization of this group of disorders and the principles of genetic risk calculation, highlights current concepts regarding the genetics of the most common diseases with a hereditary predisposition. This chapter also introduces The concepts of ecogenetics and pharmacogenetics, providing examples of the most prevalent ecogenetic and pharmacogenetic syndromes.

Chapter 8, "Basics of Oncogenetics," contains up-to-date information on the main groups of human genes involved in carcinogenesis, the role of environmental Carcinogenic Factors, and the Prospects of utilizing molecular-genetic Methods for the Diagnosis and treatment of oncological diseases.

The authors considered it essential to include Chapter 9, "Congenital Malformations," which presents both the domestic Classification of malformations and classifications derived from international literature sources. The primary groups of genes responsible for The Development of congenital malformations are also specified.

The concluding chapters of the textbook (Chapters 10 and 11) cover the principles of diagnosis and Prevention of Hereditary Diseases. These chapters were written taking into account the Ministry Order "On the Improvement of Medical Genetic Care in Ukraine" No. 641/84 dated 31.12.2003.

We hope that the material in this textbook will facilitate the mastery of key advancements in modern medical genetics—a vital branch of medicine. Undoubtedly, the book will be useful not only to medical students but also to physicians across various specialties.

The authors are sincerely grateful to their colleagues for their assistance in preparing the manuscript for publication. We are well aware that, constrained by curriculum requirements and the volume of the publication, not everything could be covered in exhaustive detail, and that the book is not without flaws. Therefore, any constructive criticism will be received with profound gratitude.

On behalf of the authors, Academician of the Academy of Medical Sciences of Ukraine, Professor V. M. Zaporozhan