1 Genetics | Fundamentals of Medical Science & Research
Contents
Introduction to genetics
SLO 1 Explain the different ways genetics contributes to disease risk
SLO 2 Record and interpret a human pedigree using standard symbols
SLO 3 Define the relationship between a gene and its phenotype
SLO 4 Apply probabilities to independent vs. dependent genetic events
Single gene inheritance patterns
SLO 1 From a family history, identify the likely pattern of inheritance and predict risk for other family members
SLO 2 Describe the expected pattern of inheritance within a family for an autosomal dominant disorder
SLO 3 Explain penetrance and situations where incomplete penetrance might be expected
SLO 4 Explain intuitively, if not quantitatively, how Bayes’ theorem allows additional information to be incorporated into risk evaluations
SLO 5 Explain variable expressivity and what accounts for it
SLO 6 Describe the expected pattern of inheritance within a family for an autosomal recessive disorder
SLO 7 Use the Hardy-Weinberg law to calculate disease incidence based on carrier frequency and vice-versa
SLO 8 Describe the expected pattern of inheritance within a family for a sex-linked recessive disorder
Other types of inheritance
SLO 1 Describe features of mitochondrial inheritance
SLO 2 Distinguish maternal from paternal imprinting
SLO 3 Explain how uniparental disomy can give rise to an autosomal recessive or imprinted disorder
SLO 4 Explain how new mutation accounts for seemingly sporadic occurrences of genetic disorders
SLO 5 Explain how germline mosaicism causes recurrent autosomal dominantly transmitted disease from unaffected parents
SLO 6 Describe how lethal autosomal dominant mutations still give rise to disease
SLO 7 Describe genetic anticipation and explain how it alters patterns of inheritance
Complex genetics
SLO 1 Define what is meant by “complex genetics”
SLO 2 Describe normal genetic variation in the human population
SLO 3 Explain how natural selection influences disease gene frequencies
SLO 4 Explain how meiosis increases genetic diversity
SLO 5 Explain the concept of linkage disequilibrium and haplotypes
SLO 6 Describe the origins of the haplotype block structure of the genome
SLO 7 Explain how “genome-wide association analysis” (GWAS) is used to identify common genetic variants in the population that contribute to risk for common disease and how these variants differ from those responsible for Mendelian disorders
Cancer genetics
SLO 1Describe how a proto-oncogene transforms into an oncogene
SLO 2Explain the two-hit model of tumor suppressor gene inactivation
SLO 3Explain how inherited DNA repair deficiency leads to cancer
Chromosomal abnormalities
SLO 1 Describe the cytogenetic organization of the human genome
SLO 2 Compare and contrast the clinical laboratory tests (karyotype, FISH, and microarrays) used for detecting chromosomal abnormalities
SLO 3 Describe human chromosomal abnormalities and how they are inherited
SLO 4 Distinguish constitutional from acquired chromosomal abnormalities
SLO 5 List clinical scenarios for which a chromosomal abnormality should be considered
Frontiers of genetic diagnosis and therapy
SLO 1 Compare and contrast indications and limitations of different genetic tests
SLO 2 Compare and contrast sources of DNA used for genetic testing
SLO 3 Be prepared to explain possible outcomes of genetic test results to patients and their families
SLO 4 Identify forms of inherited and acquired disorders potentially amenable to gene therapy and genome editing technologies