The lectures in this curriculum are intended to introduce you to the use of family history information in pediatrics and to review the basic patterns of genetic transmission. Family history is the most fundamental way to incorporate genetics into medical practice. Family history information can alert the clinician to the possibility of a genetic condition, can be a prelude to obtaining genetic testing, and can guide further medical management and assessment of risk. Although taking a thorough family history can be time-consuming, it is not difficult to obtain basic family history information, which can serve as a screen that may lead to seeking more detailed information.
In this curriculum, we will first review the basic patterns of classical Mendelian inheritance - that is, autosomal recessive, autosomal dominant, and sex-linked. You may have learned about this during your training, but this lecture may serve as a refresher and you may find that some details have been filled in with new knowledge in recent years. Next we will review modes of inheritance that do not follow classical Mendelian patterns - such as genomic imprinting, anticipation, and mitochondrial inheritance. Third, we will look at the concept of multifactorial inheritance, which explains how traits can cluster in families due to the combined action of multiple genes interacting with one another and with the environment. We will then review the use of standard pedigree symbols and provide some tips to help in taking a family history. Finally, we will consider some basic principles of simple genetic risk assessment.
- Recognize the basic patterns of Mendelian inheritance (dominant and recessive, autosomal and sex-linked).
- Recognize patterns of genetic transmission that do not follow classical Mendelian patterns, such as genomic imprinting, anticipation, and maternal transmission.
- Explain how multifactorial inheritance may account for familiar clustering of rare and common traits that are not due to the action of single genes.
- Utilize standard pedigree symbols to diagram family trees.
- Utilize principles of genetic transmission to assess genetic risk of individuals in a family.
- Physician Trainees
Bruce Korf MD, PhD
- Released: June 23, 2016