Duffy blood group genotyping in French Basques using polymerase chain reaction with allele-specific primers (PCR-ASP).

Blood group antigens such as Duffy represent interesting models for population genetics studies. The distribution of the Duffy blood group was determined using PCR in a sample of Basque (n = 126) and non-Basque (n = 110) patients from the general hospital of the French Basque Country. The frequency of FY*A allele was significantly lower among autochthonous French Basques (P < 0.001). This result, obtained for the first time by PCR analysis in this population, was within the range of previous historical studies in various Basque subpopulations using traditional hemagglutination methods. When compared with European data, our Basque sample demonstrated the lowest FY*A/FY*B ratio, this fact confirming hemotypology data published before the molecular biology era. Our results with FY*X were quite similar to those reported in European populations.

Chronic myeloid leukemia as a secondary neoplasm after anti-cancer radiotherapy: a report of three cases and a brief review of the literature.

Chemotherapy-related acute leukemias or myelodysplasias are well-recognized entities. On the other hand, little is known about the possible occurrence of secondary chronic myeloid leukemia (CML) after radiotherapy, albeit accidental irradiation represents a classical predisposing factor for this disease. We report here three cases of Philadelphia-positive CML appearing one to 25 years after breast or uterine cervix cancer radiotherapy. One patient had also received chemotherapy. Clinical and biological characteristics of these cases did not significantly differ from those of de novo CMLs. A brief review of the literature is made about this possible peculiar entity. Large registries appear warranted to assess the real risk of developing CML after anti-cancer radiotherapy.

Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.

Inherited factor XI deficiency is an injury-related bleeding disorder that is rare in most populations except for Jews, in whom 2 mutations, a stop mutation in exon 5 (type II) and a missense mutation in exon 9 (type III), predominate. Recently, a cluster of 39 factor XI-deficient patients was described in the Basque population of Southwestern France. In this study, we determined the molecular basis of factor XI deficiency in 16 patients belonging to 12 unrelated families of French Basque origin. In 8 families, a nucleotide 209T>C transition in exon 3 was detected that predicts a Cys38Arg substitution. Four additional novel mutations in the factor XI gene, Cys237Tyr, Tyr493His, codon 285delG, and IVS6 + 3A>G, were identified in 4 families. Expression studies showed that Cys38Arg and Cys237Tyr factor XI were produced in transfected baby hamster kidney cells, but their secretion was impaired. Cells transfected with Tyr493His contained reduced amounts of factor XI and displayed decreased secretion. A survey of 206 French Basque controls for Cys38Arg revealed that the prevalence of the mutant allele was 0.005. Haplotype analysis based on the study of 10 intragenic polymorphisms was consistent with a common ancestry (a founder effect) for the Cys38Arg mutation.