Human Inheritance and Pedigrees

This set of vocabulary flashcards covers human inheritance patterns, pedigree symbols, and specific genetic disorders discussed in the lecture.

Pedigree

A diagram listing the members and ancestral relationships in a family, used in the study of human heredity.

Male Symbol

Designated in a pedigree by a square.

Female Symbol

Designated in a pedigree by a circle.

Affected Individual

Represented in a pedigree by shaded circles and squares, indicating they express the genetic trait of interest.

Union

Represented by a horizontal line between a square and a circle, such as a marriage.

Autosomal Dominant Disorder

A genetic condition where a single copy of an allele causes the phenotype associated with the disease; often called gain-of-function mutations.

Autosomal Recessive Mutation

Often referred to as loss-of-function mutations because the phenotype represents a lack of an ability to perform a function, such as the ability to transport oxygen in sickle-cell disease.

Gain-of-function mutation

A term for mutations in which the phenotype is determined by a single allele, as seen in autosomal dominant disorders.

Loss-of-function mutation

A term for recessive mutations associated with genetic diseases where the phenotype represents a lack of functional ability.

Carrier Parents

Unaffected individuals who possess one recessive allele and can give birth to a child with an autosomal recessive disease.

Falconi anemia

An autosomal recessive trait where affected individuals show slow growth, heart defects, possible bone marrow failure, and a high rate of leukemia.

Neurofibromatosis

A dominant condition caused by the production of an abnormal form of the protein neurofibromin.

Albinism

A condition resulting from a lack of melanin, caused by an autosomal recessive allele.

Slow Twitch muscles

A trait that is inherited as a homozygous recessive condition, represented by the genotype $ff$.

Fast Twitch muscles

A muscular trait that is dominant over slow twitch muscles, represented by the allele $F$.

Autosomal Dominant Inheritance Pattern

A pattern where the trait usually appears in every generation, an affected person usually has an affected parent, and about half the children may be affected.

Autosomal Recessive Inheritance Pattern

A pattern where the trait can skip generations, parents may be unaffected carriers, and males and females are affected equally.