Medical Genetics

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

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.

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Course Includes

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