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Molecular analysis of 12 patients with the t(8;2l) translocation and M2 acute myelogenous leukemia
Author(s) -
Yaspo MarieLaure,
Theophile Didier,
Aurias Alain,
Créte Nathalie,
CréauGoldberg Nicole,
Bastard Christian,
Suberville AnneMarie,
Valensi Françoise,
Viguier Franck,
Berger Roland,
Sinet PierreMarie,
Delabar JeanMaurice
Publication year - 1992
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.2870050211
Subject(s) - chromosomal translocation , breakpoint , microbiology and biotechnology , biology , genetics , chromosome , gene
Abstract The t(8;21)(q22;q22) is a nonrandom cytogenetic abnormality associated with acute myelogenous leukemia of the M2 subtype (FAB classification). The 8q‐ and 21q+ derivative chromosomes have previously been isolated in somatic cell hybrids and used to map the anonymous sequences D21S65 and D21S17, which were proximal and distal, respectively, to the breakpoint on chromosome 21. DNA from a series of 12 t(8;21) patients and 7 controls was analyzed by pulsed field gel electrophoresis. Physical linkage of probes D21S65 and D21S17 on a 2100 kb Nrul fragment was established by partial digestion experiments. In all the patients, the translocation generated a rearranged D21S65 Nrul fragment of 650 to 750 kb, suggesting heterogeneity in the breakpoints. This heterogeneity was confirmed by using BssHII, Sacll , and Eagl enzymes. Our results are consistent with the presence of a 100 Kb breakpoint cluster region on chromosome 21 encompassing the AMLI gene. Interestingly, in half of the patients, demethylation of an Nrul site located 7 kb proximal to the last exon of the AMLI gene occurred on the nontranslocated chromosome 21.