Detection of chromosomal 7 loss in myelodysplasia using an extremely polymorphic DNA probe.

Chromosomal loss is a characteristic feature of the myelodysplastic syndromes (MDS). A method is described which detects chromosomal 7 loss in MDS by DNA analysis using a specific hypervariable region gene probe which has been cloned from a human DNA fingerprint. Loss of one of the chromosomal 7 homologues was demonstrated in 10/118 MDS patients; the ten patients include all the five patients which had previously been shown to have monosomy 7 by cytogenetic analysis. This technique makes it feasible to study serial samples from large numbers of patients for loss of chromosomal material and could be readily applied to the study of other human malignancies.