Principles of Single Gene Inheritance

Specific Knowledge Objectives
Students should understand:

• The patterns of inheritance characteristic of autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive traits;
• Factors that modify development of the phenotype in single-gene disorders, including variable expressivity and incomplete penetrance;
• The basis of mitochondrial diseases and the expected pattern for mitochondrial inheritance;
• The Lyon mechanism of random X-inactivation and the clinical implications for phenotype and carrier detection;
• Basic facts regarding new mutations including frequency and role of advanced paternal age, mosaicism, and reproductive fitness.

READING ASSIGNMENT: T & T, Chap. 4, pp 53-91.

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