Inheritance and Pedigree Analysis

This set of vocabulary flashcards covers the symbols, conventions, and modes of inheritance used in pedigree analysis based on the lecture transcript.

Pedigree charts

Visual representations of how a trait is passed down through multiple generations, used by geneticists to characterise inheritance patterns.

Horizontal line

The convention in a pedigree chart that represents mating between two individuals.

Vertical line

The convention in a pedigree chart that represents the link between two generations.

Square symbol

The symbol used in a pedigree chart to represent a male.

Circle symbol

The symbol used in a pedigree chart to represent a female.

Coloured shape

The symbol used in a pedigree chart to indicate an affected individual.

Uncoloured shape

The symbol used in a pedigree chart to indicate an unaffected individual.

Consanguineous breeding

Mating between individuals who are closely related, indicated by a double horizontal line in a pedigree.

Diamond symbol

The symbol used in a pedigree chart when the gender of an individual is not specified.

Autosomal dominant inheritance

A mode of inheritance where the trait cannot skip a generation, and if an offspring is affected, there must be at least one affected parent.

Autosomal recessive inheritance

A mode of inheritance where the trait can skip a generation, and if both parents are affected, all offspring must be affected.

X-linked dominant inheritance

A mode of inheritance where an affected male must have an affected mother and will have 100% incidence of affected daughters; it cannot skip a generation.

X-linked recessive inheritance

A mode of inheritance where an affected female must have an affected father and all of her sons will be affected; males are much more frequently affected than females.

Y-linked inheritance

A mode of inheritance where only males show the trait, all males in a lineage are affected, and it cannot skip a generation.

Huntington’s disease

A common example of a disorder following an autosomal dominant inheritance pattern.

Achondroplasia

A form of dwarfism that serves as an example of autosomal dominant inheritance.

Cystic fibrosis

A common example of a disorder following an autosomal recessive inheritance pattern.

Phenylketonuria (PKU)

A metabolic disorder that serves as an example of autosomal recessive inheritance.

Rett syndrome

A disorder noted as an example of X-linked dominant inheritance.

Fragile X syndrome

A genetic condition cited as an example of X-linked dominant inheritance.

Haemophilia

A blood-clotting disorder noted as an example of X-linked recessive inheritance.

Red-green colour blindness

A common trait used as an example of X-linked recessive inheritance.

Hypertrichosis pinnae auris

A trait involving hair on the external ear cited as an example of Y-linked inheritance.

Factor 13 deficiency

An example of a condition following an autosomal recessive inheritance pattern.

Duchenne muscular dystrophy

A severe form of muscular dystrophy cited as an example of X-linked recessive inheritance.