A polymorphism of the X-linked gene IDS increases the number of females informative for transcriptional clonality assays

摘要: Studies of clonality have been essential for understanding the hierarchy hematopoiesis and biology malignancies. Most assays are based on X chromosome inactivation phenomenon in females; these detect protein polymorphisms, differences DNA methylation, or transcripts active chromosome. Assays polymorphisms methylation significant shortcomings. The major disadvantage transcriptional is their limited applicability since only approximately half females informative studies. We developed a new assay an exonic polymorphism X-chromosome gene IDS. This located same region (Xq28) as G6PD p55, two genes with which we previously assays. non-radioactive PCR-based rapid screening genotype determination clonality. also report reaction conditions quantitative ligase detection IDS allelic transcripts. frequency 46% Caucasian 39% African-American combination 76% 62% While this highly polymorphic females, it not Oriental females. established that linkage equilibrium p55. Unlike methylation-based assays, suitable studying non-nucleated cells such platelets reticulocytes. With discovery other genes, all should eventually be analysis.