-It refers to a medical condition or abnormality that is caused by changes or mutations in an individual's DNA.

a single copy of a mutated or defective gene on one of the non-sex chromosomes.

the presence of two copies of a mutated or defective gene (homozygosity) is required for an individual.

caused by a mutation or abnormality in a gene located on the X chromosome.

A _____ mutation usually occurs in only one copy of a gene.

When two people carrying a recessive mutation in the same gene have children, ________ of the children will inherit both mutant copies and exhibit the disease.

- lack of enzyme causes immune deficiency

first defect approved for human gene therapy

Its frequency is rare

Defective ion transport indirectly affects mucous secretion in lungs

- It affects 1/2000 (whites) - Rare in Asians

Disintegration of muscle tissue

Giant gene is a frequent target for mutations

It affects 1/3000 males (sex-linked)

Common form of X-linked mental retardation

1/1500 in males 1/3000 in females (sex-linked)

Defect in blood coagulation

1/10,000 males (sex-linked)

Genetically dominant form of dystrophy

It affects 1/10,000

Mental retardation due to lack of enzyme

Detected in newborns by urine analysis Special diet prevents symptoms

1/5000 (Western Europe) Rare elsewhere

Defect in hemoglobin beta chain

Heterozygotes are resistant to malaria but homozygotes are sick

Common in Africa First molecular disease to be identified

1/400 (U.S. blacks)

If the brother and sister have offspring, their child may inherit ______ copies of the defective gene and then exhibit the symptoms of the defect.

deficit of clotting factor 8

aka christmas disease deficit of clotting factor 9

Some ________ are due to the interacting effects of several individual genes.

Some examples are cleft palate, spina bifida, certain cancers, and diabetes.

is a genetic disorder that occurs when an individual has an extra copy of chromosome 21

is a genetic condition in which a single functional copy of a particular gene is insufficient to maintain normal cellular function.

refers to a condition where an individual has only one functional copy of the elastin gene (ELN) instead of the normal two copies.

is found in the elastic tissues of skin, lung, and blood vessels.

People with one copy of ELN are unable to make sufficient elastin for this tissue, resulting in a narrowing of the aorta that sometimes requires surgery and is referred to as ________.

occur when the defective copy of a gene interferes with the functional copy.

the defective protein may bind to and interfere with the normal protein and the proteins function as ______

If the mutant protein is defective but still forms dimers, then ______ of the complexes will be defective.