COMPARISON OF CYTOGENETIC AND RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM ANALYSES FOR THE DETECTION OF LOSS OF CHROMOSOME MATERIAL IN CLONAL HEMATOPOIETIC DISORDERS

Loss of chromosome material, as manifested by monosomy or partial deletion, is commonly found in neoplastic cells. We have undertaken a systematic comparison of standard cytogenetic analysis and molecular analysis for the detection of such loss, using as a model loss of chromosome 7 in 72 patients with a clonal myeloid malignancy. A large number of probes was used to screen three regions of chromosome 7 for loss by restriction fragment length polymorphism (RFLP) analysis. There were nine cases in which loss of chromosome 7 was detected by both techniques, but seven in which loss was detected by only one of the methods, demonstrating the complementary nature of these two techniques.