Overview
Explore the fundamental principles of Mendelian inheritance in this 21-minute video lecture by Dr. Bruce Korf, a medical geneticist from the University of Alabama at Birmingham. Delve into the basic patterns of genetic transmission, including autosomal recessive, autosomal dominant, and sex-linked inheritance. Gain insights into key concepts such as penetrance, expressivity, and X chromosome inactivation. Examine the role of homozygosity, heterozygosity, and consanguinity in genetic inheritance. Learn about genotypes, phenotypes, and the significance of alleles in determining genetic traits. Understand how family trees can be used to illustrate inheritance patterns and predict the likelihood of specific genetic outcomes. This comprehensive overview provides a solid foundation for understanding the complexities of genetic inheritance and its implications in medical genetics.
Syllabus
Intro
Objectives
Autosomal Recessive
Genetic Heterogeneity
Archibald Garrod (1857-1936)
Phenylalanine Metabolism
Autosomal Dominant New Mutation
Age-Dependent Penetrance
Penetrance and Expressivity
Pseudodominance
X-Linkage
X-linked Dominant/Male Lethal
X-Chromosome Inactivation
Pseudoautosomal Regions
The Next Talk
Taught by
OPENPediatrics