1 Genetics | Fundamentals of Medical Science & Research

Contents

Introduction to genetics

SLO 1Explain the different ways genetics contributes to disease risk

SLO 2Record and interpret a human pedigree using standard symbols

SLO 3Define the relationship between a gene and its phenotype

SLO 4Apply probabilities to independent vs. dependent genetic events

Single gene inheritance patterns

SLO 1From a family history, identify the likely pattern of inheritance and predict risk for other family members

SLO 2Describe the expected pattern of inheritance within a family for an autosomal dominant disorder

SLO 3Explain penetrance and situations where incomplete penetrance might be expected

SLO 4Explain intuitively, if not quantitatively, how Bayes’ theorem allows additional information to be incorporated into risk evaluations

SLO 5Explain variable expressivity and what accounts for it

SLO 6Describe the expected pattern of inheritance within a family for an autosomal recessive disorder

SLO 7Use the Hardy-Weinberg law to calculate disease incidence based on carrier frequency and vice-versa

SLO 8Describe the expected pattern of inheritance within a family for a sex-linked recessive disorder

Other types of inheritance

SLO 1Describe features of mitochondrial inheritance

SLO 2Distinguish maternal from paternal imprinting

SLO 3Explain how uniparental disomy can give rise to an autosomal recessive or imprinted disorder

SLO 4Explain how new mutation accounts for seemingly sporadic occurrences of genetic disorders

SLO 5Explain how germline mosaicism causes recurrent autosomal dominantly transmitted disease from unaffected parents

SLO 6Describe how lethal autosomal dominant mutations still give rise to disease

SLO 7Describe genetic anticipation and explain how it alters patterns of inheritance

Complex genetics

SLO 1Define what is meant by “complex genetics”

SLO 2Describe normal genetic variation in the human population

SLO 3Explain how natural selection influences disease gene frequencies

SLO 4Explain how meiosis increases genetic diversity

SLO 5Explain the concept of linkage disequilibrium and haplotypes

SLO 6Describe the origins of the haplotype block structure of the genome

SLO 7Explain 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 1Describe the cytogenetic organization of the human genome

SLO 2Compare and contrast the clinical laboratory tests (karyotype, FISH, and microarrays) used for detecting chromosomal abnormalities

SLO 3Describe human chromosomal abnormalities and how they are inherited

SLO 4Distinguish constitutional from acquired chromosomal abnormalities

SLO 5List clinical scenarios for which a chromosomal abnormality should be considered

Frontiers of genetic diagnosis and therapy

SLO1Compare and contrast indications and limitations of different genetic tests

SLO2Compare and contrast sources of DNA used for genetic testing

SLO3Be prepared to explain possible outcomes of genetic test results to patients and their families

SLO4Identify forms of inherited and acquired disorders potentially amenable to gene therapy and genome editing technologies

License

Genetics Copyright © by kullberm. All Rights Reserved.

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