Multiple mutations are responsible for the high frequency of 2 lysosomal storage diseases in a small geographic area

摘要: Late infantile metachromatic leukodystrophy is relatively frequent among Arabs in the Galilee. The disease has been diagnosed 7 Christian and Muslem unrelated families originating from villages a 20x20 kms area. Molecular analysis of aryl sulfatase A gene revealed that caused these by 5 different mutations. In each case patients were homozygous for one Four mutations are unique up to now while other mutation reported Australian Lebanon (T274M). This may have introduced Galilee Lebanon. Comparable observations Bach who demonstrated high incidence another lysosmal storage disease, Hurler syndrome, Druses same region due 3 novel Arab population lower very inbred large frequent. this type it expected soon (3 generations) after first event affected individual will be born. possible causes increase frequency new under investigation. We trymore » determine whether general phenomenon which affects various genes or lysosomal disorders.« less