DNA polymorphism 5' to the JH region of the human immunoglobulin heavy chain gene and immunoglobulin gene rearrangements in leukemia.
DNA samples of two patients with acute myeloblastic leukemia were noted to have a variant band on digestion with HindIII and hybridization to a probe for the joining region of the immunoglobulin (Ig) heavy chain gene (JH). Further analysis showed that the variant band represented a constitutional DNA polymorphism rather than an Ig gene rearrangement. The HindIII fragment detected by the JH probe includes a highly polymorphic region 5' to the Ig heavy chain locus, and hence variant germline bands may be seen on autoradiography that can be mistaken for Ig gene rearrangements. The use of several different restriction enzymes and the analysis of the constitutional DNA allows a clear distinction to be made between somatic gene rearrangements and DNA polymorphisms.
D000208:Acute Disease; D001345:Autoradiography; D004247:DNA / Q000235:genetics*; D005796:Genes; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007136:Immunoglobulins / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic
D007143:Immunoglobulin Heavy Chains; D007136:Immunoglobulins; D004247:DNA