M. Pfeilstocker et al., FMS HEMIZYGOSITY IN MYELOID DYSPLASIA AND ACUTE MYELOID-LEUKEMIA WITHCHROMOSOMAL ABERRATION DEL(5)(Q) DEMONSTRATED BY POLYMERASE CHAIN-REACTION, Journal of molecular medicine, 73(8), 1995, pp. 403-407
Citations number
29
Categorie Soggetti
Medical Laboratory Technology","Genetics & Heredity
Interstitial deletions of the long arm of chromosome 5 del(5)(q), are
recurring aberrations in the myelodysplastic syndrome and acute myeloi
d leukemia. Several genes located in region (5)(q23-34) have been impl
icated as being of pathogenic importance. In this study seven samples
of six patients with myelodysplastic syndrome and acute myeloid leukem
ia who have the del(5)(q) aberration were analyzed by polymerase chain
reaction (PCR) and Southern blot technique. FMS hemizygosity was demo
nstrated in all patients. PCR analysis from peripheral blood samples c
onfirmed the observations of this aberration found by semiquantitative
Southern blot. PCR-based analysis can be used for primary diagnosis i
n addition to cytogenetic evaluation and for follow-up in patients wit
h del(5)(q) aberration.