Content

Objectives

Reading Assignment

Patterns of Inheritance in Single-Gene Disorders

• Match Mendelian transmission patterns to their description.

Pp 346-363

Molecular Basis of Single-Gene Disorders

• List diseases due to a missense mutation.
• Match substrates accumulated in different storage diseases.
• Identify the gene product whose deficiency results in hyperhomocysteinemia.
• Specify the group of enzymes that participate in enzymatic hydroxylation reactions and transfer electrons to oxygen and are therefore known as mono-oxygenases.

Single-gene Disorders with Nonclassical Patterns of Inheritance

• Match the nonclassical patterns of inheritance with their description.
• Identify the organ systems affected by mutations in mitochondrial genes.
• List the most well-known examples of triplet-repeat expansion diseases.
• Identify the gene affected in fragile X syndrome.
• Specify the test that may be required to identify the presence of deletions within the FMR-1 gene or the 5' repeats in a percentage of the cells (mosaicism) even if capillary electrophoresis is performed.
• Identify the disease associated with idiopathic congenital central hypoventilation syndrome (CCHS).
• Name the disorder associated with deletion in the paternal chromosome 15, del(15)(q11q13).
• Compare Angelman syndrome and Prader-Willi syndrome.

Limitations of Molecular Testing

• Specify why most therapeutic targets are phenotypic in molecular testing.