Amplification of AML1 gene in association with karyotype, age and diagnosis in acute leukemia patients.
The AML1 gene, located in the chromosomal band 21q22, belongs to the runt domain family of genes and encodes the subunit of the core-binding factor (CBF). AML1 is normally expressed in all hematopoietic lineages and is essential for the transcriptional regulation of a number of hematopoietic specific genes. In acute leukemia three types of abnormality of AML1 have been observed -- chromosomal translocations, point mutation and duplication or amplification of the unrearranged gene. The most common origin of extra copies of the AML1 gene is polysomy of chromosome 21 or a partial duplication of the long arm of chromosome 21, less frequently ring, isochromosome or the tandem repetition of chromosome 21. In the study 13 children and 5 adults with ALL and AML or MDS, respectively, have been included. Using standard G-banding and dual color FISH analyses, gain of AML1 originated in polysomy of chromosome 21 in each group of patients was proved. True high-level amplification was not observed but some uncommon changes in noteworthy association with other chromosome aberrations, age or diagnoses were presented.
Kirschnerová
G
G
Cancer Research Institute, Slovak Academy of Sciences, 83391 Bratislava, Slovak Republic. gabriela.kirschnerova@savba.sk
Tóthová
A
A
Babusíková
O
O
D000208:Acute Disease; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005260:Female; D005784:Gene Amplification; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007938:Leukemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged
D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human