We isolated and characterised eight pairs of primers to amplify microsatellite regions for Centrolobium tomentosum, a neotropical tree species widely used for forest restoration, with important ...pharmacological potential. For the primer characterisation, we genotyped 48 individuals from two populations of C. tomentosum from natural remnants of Atlantic Rainforests. We detected 2–9 alleles per locus, observed and expected heterozygosities ranged from 0.08 to 0.72, and 0.08 to 0.83, respectively and we observed private alleles in six of the loci. No linkage disequilibrium was observed and all loci are in Hardy–Weinberg Equilibrium in at least one of the populations. This study presents a powerful tool for population genetic studies of this species.
The c.156_157insAlu mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutation is not detectable using the commonly used ...screening methodologies and must be specifically sought, we screened for this rearrangement in a total of 5,443 suspected HBOC families from several countries. Whereas the c.156_157insAlu mutation was detected in 11 of 149 suspected HBOC families from Portugal, representing 37.9% of all deleterious mutations, in other countries it was detected only in one proband living in France and in four individuals requesting predictive testing living in France and in the USA, all being Portuguese immigrants. After performing an extensive haplotype study in carrier families, we estimate that this founder mutation occurred 558 ± 215 years ago. We further demonstrate significant quantitative differences regarding the production of the full length RNA and the transcript lacking exon 3 in c.156_157insAlu mutation carriers and in controls. The cumulative incidence of breast cancer in carriers did not differ from that of other and pathogenic mutations. We recommend that all suspected HBOC families from Portugal or with Portuguese ancestry are specifically tested for this rearrangement.
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