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Medical Genetics

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

Course
Materials

  • 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

MSC Faculty

53 Courses

Not Enrolled

Course Includes

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