title: Haplotype study of microsatellites flanking the t(15;17) breakpoint in acute promyelocytic leukemia patients from North Portugal.
abstract: A higher frequency of acute promyelocytic leukemia (APL) has been noted in countries of Southern Europe and among 'Latino' patients of the United States with acute myeloid leukemia (AML). In order to discover whether there is any genetic predisposition to the disease, we analyzed microsatellites flanking PML and RARalpha genes in 29 t(15;17) APL patients from North Portugal and compared them with a control group of 123 healthy individuals. Fluorescent PCR products were analyzed using an automated capillary electrophoresis system and allele and haplotype frequencies of the two populations were determined. No significant differences were found, suggesting the same genetic origin of patients and healthy individuals. As suggested by the four microsatellites screened, MSI (microsatellite instability) does not explain the increased incidence of t(15;17) APL in this Portuguese population. These results intend to be a new approach to the study of APL, reflecting the particularity of the disease.
authors.affiliation: IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Portugal.
authors.forename: S
authors.initials: S
authors.lastname: Martins
authors.forename: F
authors.initials: F
authors.lastname: Trigo
authors.forename: L
authors.initials: L
authors.lastname: Azevedo
authors.forename: M J
authors.initials: MJ
authors.lastname: Silva
authors.forename: J E
authors.initials: JE
authors.lastname: Guimaraes
authors.forename: A
authors.initials: A
authors.lastname: Amorim
mesh_terms: D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006239:Haplotypes; D006801:Humans; D015994:Incidence; D015473:Leukemia, Promyelocytic, Acute / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D011174:Portugal / Q000453:epidemiology; D014178:Translocation, Genetic