What are Ashkenazi Jewish Genetic Diseases?
Ashkenazi Jewish genetic diseases are a group of disorders that occur with higher frequency in the Ashkenazi Jewish population,
those whose ancestors were from Central and Eastern Europe (i.e. Poland, Russia, Germany, Lithuania, etc.) It is estimated
that 1 in 5 Ashkenazi Jews is a carrier of a mutation in at least one of several disease genes.
Why the Ashkenazi Jews?
The Ashkenazi Jews are the descendants of the Jewish people that immigrated to Eastern Europe at the time of the Diaspora.
It is estimated that all individuals carry a small number of potentially harmful gene changes (called mutations). Therefore,
it is believed that the “founders” of the Ashkenazi population carried mutations in these specific disease genes. Since these
Jewish communities in Europe were small and isolated, and members of those communities tended to mate within, the gene mutations
present in those small groups of European Jews became more prevalent in future generations.
What are the diseases?
The following list represents the diseases most commonly screened for in the Ashkenazi Jewish population. Click on each disease
for a brief description:
How are the 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 develop the disease. If both partners are carriers of a mutation in the same disease gene, there is a 25% chance of having
an affected child, a 50% chance of the child being a carrier like themselves, and a 25% chance of the child being neither
affected nor a carrier.
Other Diseases Prevalent in the Ashkenazi Jewish Population
