A GENE FOR ARTHROGRYPOSIS MULITPLEX CONGENITA NEUROPATHIC TYPE IS LINKED TO D5S394 ON CHROMOSOME 5QTER

Arthrogryposis multiplex congenita (AMC) is a heterogeneous-symptom co mplex characterized by joint contractures at birth that involve more t han one part of the body. We performed a genetic-linkage study of one large Israeli-Arab inbred kindred showing autosomal recessive inherita nce of AMC neuropathic type that had been recently investigated by our group. After analysis of similar to 80% of the genome, D5S1456, which showed no increased homozygosity, showed increased genotype sharing i n affected individuals. Linkage analysis in all family members reveale d linkage between AMC and D5S1456 on chromosome 5qter (maximum LOD sco re 5.3 at recombination fraction .001). Analysis of additional markers in this region places the gene causing AMC in this family between D5S 1456 and D5S498.