Laboratory Genomics

CONCEPTS OF MENDELIAN INHERITED DISORDERS (MLS)

Learning Lab for Medical Laboratory Scientists

Author information
Ann Moyer, MD, PhD
Dr Moyer disclosed no conflict of interest

Learning objectives:

  • Recall definitions of basic terms used in genetics
  • Recognize inheritance patterns of common Mendelian disorders
  • Compare and contrast inheritance patterns
  • Determine which inheritance pattern is most likely based on a pedigree
  • Review clinical and genetic characteristics of common Mendelian disorders
  • Describe the process of X-inactivation and its implications
  • Demonstrate knowledge of Hardy-Weinberg equilibrium and Bayes Theorem
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