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Ashkenazi Jew:
Jewish individual of Eastern/Central European ancestry.
Autosomal Recessive Inheritance:
Pattern of inheritance in which disease results only when an individual inherits two gene mutations for a particluar disease, one from each parent. If both members of a couple are carriers for the same disease gene, there is a 25% chance in each pregnancy for the child to be affected.
Carrier:
An individual who has one altered (mutated) copy of a gene and one normal copy of the same gene. Carriers are healthy and have no features of the illness for which they are carriers. The only consequence of the carrier state is the possibility of transmitting the mutated gene to children of the carrier.
Chromosome:
A structure found in the cell nucleus and containing genetic information. Human cells contain 46 chromosomes (23 pairs). One of each pair of chromosomes derives from the father, and the other from the mother. Each chromosome contains thousands of individual genes. The genes determine each person's characteristics.
DNA:
Deoxyribonucleic Acid. The molecule that encodes genetic information responsible for the structure and function of living organisms. DNA allows for the transmission of inherited information from generation to generation.
Enzyme:
A protein that acts as a catalyst to accelerate specific biochemical reactions. Enzymes are required for the normal metabolism (breakdown) of substances in the body.
Gene:
The fundamental unit of heredity. Each gene is composed of a sequence of DNA needed to produce a functional protein. Information in the genes is passed from parent to child.
Genetic Disease:
Disease state resulting from genetic mutations.
Mutation:
An alteration in the sequence of DNA in the gene. Many mutations are "silent" and do not cause disease. Other mutations disrupt the production of a functional protein leading to a genetic disease.
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