Читать книгу Protocols for High-Risk Pregnancies - Группа авторов - Страница 117

Tay–Sachs disease and other disorders more prevalent in individuals of Ashkenazi Jewish descent Clinical significance

Оглавление

Due to founder effects, a number of diseases are more common among individuals of Ashkenazi (Eastern and Central European) Jewish descent. These include Tay–Sachs disease, Canavan disease, familial dysautonomia, Gaucher disease, Fanconi anemia, and a number of other rare disorders. While the clinical manifestations of each of these diseases vary, they have in common severe metabolic, neurologic, or other consequences that lead to early morbidity and mortality. The carrier rates range from 1 in 15 to 1 in 168 for those of Ashkenazi Jewish descent but are typically much rarer in other populations. Tay–Sachs disease specifically is carried by 1 in 30 individuals with Ashkenazi Jewish backgrounds and 1 in 50 individuals of French Canadian, Cajun, and Irish descent.

Protocols for High-Risk Pregnancies

Подняться наверх