Medical Genetics

Review key concepts of molecular genetics including single gene disorders, atypical inheritance, cytogenetics, population genetics, and genetic linkage.

Mary Ruebush, PhD · May 5, 2020
This high-yield course reviews key concepts of Medical Genetics for USMLE Step 1, and each lesson includes multiple choice question review to ensure you understood the key principles that are most likely to appear on your exams.

Learning Objectives

  • Single Gene Disorders
    • Review how to identify pedigrees of traits which are autosomal dominant and recessive, sex-linked recessive and dominant and mitochondrial in inheritance pattern.
    • Calculate recurrence risk in families to assist with genetic counseling.

  • Atypical Inheritance & Factors Affecting Phenotypic Expression
    • Review how incomplete penetrance, pleiotropy, repeat expansion, allelic, locus and phenotypic heterogeneity, heteroplasmy, anticipation and imprinting complicate pedigree analysis.
    • Identify diseases in which each of these complications can be found.

  • Cytogenetics
    • Diagnose cases of chromosomal aneuploidies (Down, Edwards, Patau, Kleinfelter, Turner).
    • Explain the mechanisms by which these occur (unbalanced translocations, nondisjunction, inversions, deletions, duplications, ring chromosome and isochromosome)

  • Hardy-Weinburg
    • Apply the Hardy-Weinberg equilibrium formula to the prediction of carrier, allele and genotype frequencies in populations.

  • Genetic Linkage and Indirect Diagnosis
    • Use genetic distance and linkage to predict genotypes in the process of genetic counseling.


About Instructor

Mary Ruebush, PhD

Dr. Mary Ruebush, PhD, is one of the nation's most experienced instructors in Microbiology and Inmunology for USMLE Step 1 review. Dr. Ruebush is the author of Becker's Step 1 USMLE lecture notes in Inmunology and Microbiology, and from 2000 to 2012 was the author of the Kaplan Step 1 Review Notes. Dr. Ruebush received her PhD from the University of Georgia and has taugh Infectious Disease, Inmunology and Pathology at Bowman-Gray Medical School, the Uniformed Services University of the Health Sciences and Montana State University, where she received the outstanding teacher of the year award as a professor of medical science at the WWAMI Cooperative Medical School Program. Since 1990, she has taught Board Reviews for Rush Medical College (ARC Ventures), Kaplan Medical and Becker Healthcare, has helped thousands of students excel on their Step 1 USMLE exams and is the proud parent of two successful present and future MDs.

7 Courses

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Course Includes

  • 5 Lessons
  • 8 Topics
  • 6 Quizzes
  • Course Certificate