Unit 15 Objectives- Molecular Detection of Inherited Diseases
List and describe three types of polymorphisms.
List and describe the three forms of epigenetic changes.
Compare germ cell mutations with somatic cell mutations.
List four potential causes of congenital disorders.
List three methods used to detect genome mutations.
List six structural alterations.
List four causes of structural mutations.
List and describe the three main transmission patterns of inheritance.
List four affects of single-gene disorders.
Describe the following single gene disorders and state a test to aid
in the diagnosis: Lysosomal storage disease, Factor V Leiden, hemaochromatosis,
Cystic Fibrosis and Cytochrome P-450.
Describe the following single gene disorders with non-classical patterns
of inheritance and state a test to aid in the diagnosis: mitochondrial
mutations, genomic imprinting and gonadal mosaicism.
Describe the following trinucleotide repeat expansion disorders and
state a test to aid in the diagnosis: Fragile X syndrome, Huntington's
Diseae, and ideopathic congenital central hypoventilation syndrome.
Given a pedigree illustrating hereditary transmission of the disease
state the type of transmission.
