How are the Ashkenazi Jewish Genetic Diseases inherited?
In each of the cells in our bodies, we have tiny structures called chromosomes. There are thousands of genes on each chromosome. Genes are the basic units of heredity that are passed from parent to child. These genes make up who we are and guide the development of the body. For instance, there are genes for eye and hair color. These genes are in pairs; one is inherited from each parent. Sometimes, a change in a gene, called a mutation, causes the gene to malfunction and can lead to disease. The diseases mentioned here are inherited in an autosomal recessive manner. This means that males and females are equally likely to be carriers and are equally likely to be affected (have a disease). Individuals who are affected with one of these diseases have two mutations, one in each copy of the gene, for that disease. Carriers have one copy of the gene mutation and one normal working copy of the gene. Carriers are healthy individuals with no signs of the disease, and they are not at risk to deve
