We studied deletion and monosomy of chromosome 7 in 150 patients with myeloproliferative diseases. We found 8/150 patients with monosomy 7 by cytogenetics and 4/150 with deletions of the long arm of chromosome 7 by restriction fragment length polymorphism (RFLP) analysis performed with Southern and polymerase chain reaction. To overcome limitation of RFLP analysis, we restricted loss of heterozygosity study with microsatellites to 45 patients, observing deletion 7q31.1 in 7/45 patients. In all patients with molecular alterations the deletion was observed only in myeloid cells, while the monosomy was detected in both myeloid precursor and lymphocytes. This finding suggests a CD34-totipotent stem cell origin for the monosomy and a colony forming unit - granulocyte, erythrocyte, monocyte, megakaryocytes (CFU-GEMM) stem cell origin for the deletions.

Chromosome 7 monosomy and deletions in myeloproliferative diseases / P. Tripputi, B. Cassani, R. Alfano, D. Graziani, D. Cigognini, P. Doi, M. Bignotto, G. Corneo, G. Coggi. - In: LEUKEMIA RESEARCH. - ISSN 0145-2126. - 25:9(2001 Sep), pp. 735-739.

Chromosome 7 monosomy and deletions in myeloproliferative diseases

P. Tripputi
Primo
;
D. Cigognini;M. Bignotto;G. Coggi
Ultimo
2001

Abstract

We studied deletion and monosomy of chromosome 7 in 150 patients with myeloproliferative diseases. We found 8/150 patients with monosomy 7 by cytogenetics and 4/150 with deletions of the long arm of chromosome 7 by restriction fragment length polymorphism (RFLP) analysis performed with Southern and polymerase chain reaction. To overcome limitation of RFLP analysis, we restricted loss of heterozygosity study with microsatellites to 45 patients, observing deletion 7q31.1 in 7/45 patients. In all patients with molecular alterations the deletion was observed only in myeloid cells, while the monosomy was detected in both myeloid precursor and lymphocytes. This finding suggests a CD34-totipotent stem cell origin for the monosomy and a colony forming unit - granulocyte, erythrocyte, monocyte, megakaryocytes (CFU-GEMM) stem cell origin for the deletions.
Chromosome 7; Cytogenetics; Deletion; DNA; Microsatellite; Myelodysplasia; Myeloid leukemia
Settore MED/09 - Medicina Interna
Settore MED/08 - Anatomia Patologica
Settore BIO/16 - Anatomia Umana
set-2001
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/53070
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