STRUCTURAL GENE FOR BETA-NERVE GROWTH-FACTOR NOT DEFECTIVE IN FAMILIAL DYSAUTONOMIA

The developmental loss of neurons in sympathetic, sensory and some parasympathetic ganglia in familial dysautonomia suggests an inherited defect in the action of .beta.-nerve growth factor (.beta.-NGF). The role of this growth factor in dysautonomia was difficult to resolve as there is no known source of authentic human .beta.-NGF. The availability of a cloned DNA probe for the human .beta.-NGF gene allowed identification of some copies of the gene (alleles) in 6 affected families. Alleles differ in the length of restriction endonuclease fragments that hybridize to DNA probes for the gene. In 2 families, affected children did not inherit the same 2 alleles at the .beta.-NGF locus. Since this disease is transmitted in an autosomal recessive manner, affected children must share the same alleles at the locus causing the disease. This analysis excludes the .beta.-NGF gene region as the cause of this neurologic disease but does not eliminate other genes involved in .beta.-NGF action, such as those coding for processing enzymes, receptors, or other subunits of the NGF complex.