Basic Cooking Terms Defined. 1  Al dente: Italian term to describe pasta and rice that are cooked until tender but still firm to the bite. 2  Bain-marie: A pan of water that is used to help mixtures, such as custards, bake evenly and to protect them from the direct heat of the oven or stove.
Gaucher Disease and Heredity. Gaucher disease is an inherited, genetic disorder. People inherit two copies of every geneâone from each parent. Genes contain information about our genetic makeup, including physical characteristics such as eye color and height.All genes that an individual inherits are organized on 23 pairs of chromosomes.he genes for production of the enzyme glucocerebrosidase are passed from parent to child. In patients with Gaucher disease, two copies of the glucocerebrosidase gene that the individual inherited from his or her parents are both defective; thus, the glucocerebrosidase is unable to function normally.
Down's syndrome is a chromosome disorder a disease caused by a visible abnormality of the chromosomes rather than a mutation affecting a single gene. In Down's syndrome, the abnormality is a complete extra copy of chromosome 21.