Betula humilis is an endangered plant species in Central Europe. In order to protect this species, it is necessary to document its genetic diversity in this region and to identify areas for conservation prioritisation. As molecular investigations conducted throughout the ranges of many plant species have shown that the highest genetic diversities are found within former glacial refugia and/or within the contact zones of different phylogenetic lineages, we investigated the reasons underlying the considerable genetic variation of B. humilis in northeastern Poland revealed previously using nuclear microsatellites. We analysed 365 individuals of B. humilis from 19 populations and 67 specimens of Betula pendula and Betula pubescens sampled in four geographical regions in Poland and Belarus for polymorphism in chloroplast PCR-restriction fragment length polymorphism markers. Genetic data strongly suggested that B. humilis could have survived the Last Glacial Maximum at higher latitudes, but the hypothesis of a refugium in southeastern Poland was rejected. Chloroplast DNA analysis confirmed high genetic diversity in some populations in northeastern Poland. This phenomenon can likely be explained in terms of a suture zone, as the high haplotypic richness was followed by h T ≤v T . Similar patterns of haplotype distributions in the birches under study and high introgression ratio (IG00.71) among B. humilis and congeneric trees suggested that postglacial recolonisation of the shrub birch was complicated by haplotype sharing with other birches.