Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone

Abstract

Using the steady-state distribution of recessive lethal gene the probability of finding the elevated frequency of Tay-Sachs (TSD) gene among Ashkenazic Jews is computed. For various estimated values of mutation rate and population size, this probability is found to be statistically significant. This probabiltiy, in fact, becomes even smaller if a steady influx of foreign genes into the Ashkenazic Jewish populations is considered. It is suggested that heterozygote advantage together with random genetic drift should be considered as the most probable mechansim for the elevation of TSD gene frequency among the Ashkenazic Jews.