Resources

The two genes most commonly associated with hereditary breast and/or ovarian cancer.

The production of cancerous growths.

Genes physically close on a chromosome that express a phenotype when acting together.

Deoxyribonucleic acid; the molecule that encodes the genes responsible for the structure and function of living organisms and allows the transmission of genetic information from generation to generation.

Units of heredity which control growth, development and function of organisms. Located on chromosomes, genes carry information from one generation to the next. A gene is comprised of a continuous sequence of DNA necessary to encode a functional protein. Our body has about 25,000 to 30,000 genes, each of which contains the code for a specific product, typically, a protein such as an enzyme.

Group of closely related genes that make similar products. 

The ordering of genes on chromosomes according to recombination frequency.

The total of all genes in a population.

Treating disease by replacing, manipulating, or supplementing nonfunctional genes.

The actual genes carried by an individual (distinct from phenotype).

An individual that has two different alleles or genes encoding a protein; one copy encodes a normal protein whereas the second copy encodes a nonfunctional or abnormal protein. Also, two different copies of normal alleles.

A short stretch of nucleotides whose base sequence is virtually identical in all the genes that contain it. Found in many organisms from fruit flies to human beings.

An individual that has two identical alleles or genes encoding a protein. Genes may encode functional or nonfunctional proteins.

Genes whose protein products are required for cellular maintenance or metabolism.

A biochemical phenomenon that determines, for certain genes, which one of the pair of alleles, the mother's or the father's, will be active in that individual.

Inherited diseases resulting from alterations in genes that code for enzymes.

The occurrence of different genes on the same chromosome that are usually inherited together.

The ordering of genes on chromosomes according to recombination frequency.

This condition is more commonly known as "brittle bone disease" as individuals with OI have bones that break very easily. This is caused by a disorder of type I collagen in which the collagen is either improperly formed or less than a normal amount is produced. There are 4 major classifications of OI:

Type 1: mild, most common, most fractures before puberty

Type 2: lethal neonatally

Type 3: severe, short statured, 100+ fractures, bone deformities, hearing loss, dental abnormalities

Type 4: mild-moderate, shorter than average

It is believed that most cases of OI are autosomal dominant.

Observable traits or characteristics of an organism produced by the individual's genes interacting with the environment(ie. Hair color, height, weight, presence or absence of disease). The physical appearance or makeup of an individual.

This term is used synonymously with caudal agenesis. It is a loosely defined syndrome of vertebral malformations, ranging in severity from agenesis of the coccyx to absence of the sacral, lumbar, and even lower thoracic vertebrae. With high sacral and above malformations, there may be significant neurological deficits, as well as anomalies involving the genitourinary tract, intestines, and the respiratory system.