Molecular basis of autosomal recessive diseases among the Palestinian Arabs

Abstract

In the review of the literature, 71 different autosomal recessive diseases have been delineated that are relatively frequent among Palestinian Arabs. Among those, in 40 the mutation(s) responsible for the diseases are known. Fourteen of these disorders were caused by a single mutation, while the other 26 were due to multiple mutations. Most of the mutations were found in homozygosity among the affected patients. It is probable that the high frequency of most of the genetic diseases among the Palestinian Arabs is due to a founder effect as the result of the high consanguinity rates in this population. However, in some cases the high frequency was demonstrated to be secondary to the presence of multiple mutations, either allelic or in different genes in a small geographic region. This phenomenon remains unexplained but may be secondary to a selective advantage to the carriers, either specific to the region or to the population.