This textbook was prepared in accordance with the Federal State Educational Standard of Higher Education for the specialty 31.05.01 General Medicine (2020), the OOP of the specialty 31.05.01 General Medicine (2024), the Curriculum (2024), Working Program of the «Medical Genetics» discipline (2024) for students in the specialty 31.05.01 General Medi-cine and is intended for mastering general professional (GPC-5), professional (PC-5, PC-6, PC-8, PC-11) competencies in accordance with the Federal State Educational Standard. The textbook provides comprehensive information on the etiology, mechanisms of development, classification, clinical manifestations, and diagnosis of chromosomal disorders. Congenital malformations are described using medical terminology essential for any medical professional.

The textbook was prepared in accordance with the requirements of the Federal State Educational Standard of Higher Education in the direction of training (specialty) 31.05.01 General Medicine (specialist level) for studying the discipline «Medical Genetics». For students studying in the specialties: «General Medicine», 2023, PC-5, PC-6, PC-8, PC-9. The textbook presents current data on monogenic diseases, which are divided into 16 separate groups. Each group of diseases is described in detail with illustrations, tables and formulas for a better understanding of the material. The publication includes test tasks and situational tasks with examples of answers.

The collection presents problems that consider the molecular basis of heredity and variability (DNA replication, transcription, properties of the genetic code, protein biosynthesis), the interaction of allelic genes (complete and incomplete dominance, co-dominance), the interaction of non-allelic genes (complementation, epistasis, polymery), multiple allelism, pleiotropy and modifier genes, penetrance and expressiveness, linked inheritance of traits (including coupling with gender), crossing and genetic mapping, genealogical, twin and population-statistical methods of genetics.
The educational and methodological manual is intended for students at medical universities who master the core academic programs of the specialty "General medicine" of the English-medium academic program.

В сборнике представлены задачи, рассматривающие молекулярные основы наследственности и изменчивости (репликация ДНК, транскрипция, свойства генетического кода, биосинтез белка), взаимодействие аллельных генов (полное и неполное доминирование, кодоминирование), взаимодействие неаллельных генов (комплементарность, эпистаз, полимерия), множественный аллелизм, плейотропию и гены-модификаторы, пенетрантность и экспрессивность, сцепленное наследование признаков (в том числе сцепление с полом), кроссинговер и генетическое картирование, генеалогический, близнецовый и популяционно-статистический методы генетики.
Учебно-методическое пособие предназначено для студентов медицинских вузов, осваивающих основную образовательную программу специалитета «Лечебное дело» на английском и русском языках.