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Forms of Inheritance/Single Gene Disorders - Coggle Diagram
Forms of Inheritance/Single Gene Disorders
Define the principles of single gene inheritance in human disease
Definitions
ANKI
polygenic
disease
consists of complex changes in genome
examples
type 2 diabetes
asthma
cancer
Alzheimer's disease
heart disease
hypertension
obesity
monogenic
- 1 gene
polygenic
- 2 or more genes
Be able to construct a family pedigree & understand its importance in defining the form of inheritance of a genetic disease
Describe how genetic diseases can be inherited in an
autosomal dominant
autosomal recessive
X-linked recessive
X-linked dominant
Autosomal Dominant
gene @
1 allele
determines
phenotype
examples
Huntington's Disease
Inherited breast cancer
Familial hypercholesterolaemia
describing pedigree
50% offspring affected
male = female
all possibilities of transmission
does NOT skip generations
de novo mutations
penetrance can be <100%
VERTICAL PEDIGREE PATTERN
disease mechanisms
Autosomal Recessive
X-linked recessive
X-linked Dominant
Describe the basis of mitochondrial inheritance
Provide disease examples of each types of inheritance listed above