Detection of polymorphism in the RING3 gene by high-throughput fluorescentSSCP analysis

We describe the use of a high-throughput, fluorescent, polymorphism-detecti on system, based on single-strand conformation polymorphism to screen for p olymorphism in the RING3 gene. This is the first extensive mutation screen of this major histocompatibility complex-linked gene, and the entire coding region and intron-exon junctions were examined by multiplexing over 3000 p olymerase chain reaction products. These techniques should be applicable fo r analysis of variation in other human genes. Investigation of DNA from acu te lymphoblastic leukemia (ALL) and chronic myeloid leukemia (CML) patients , as well as healthy individuals revealed low levels of polymorphism across the RING3 gene. Comparison of the distribution of genotypes at each polymo rphic site between patients and healthy individuals revealed a single site which significantly deviates from Hardy-Weinberg proportions.