Further sequence and length variation at the STR loci HumFES/FPS, HumVWA, HumFGA and D12S391

This paper reports population data and statistics for the HumFES/FPS, HumVW A, HumFGA and D12S391 loci in Austria. The sequences of some rare and new v ariant alleles which have been identified in the course of the present popu lation study and other investigations are described. Sequence variation occ urred in a HumFES/FPS allele revealing an (ATTT)(9) structure and an A to C transversion in the 5' flanking region. At the HumVWA locus the structural type of the common allele 14 has been found in one allele 13 and in three examples of allele 15. Additionally the TCTA (TCTG)(3)(TCTA)(n) structure h as been observed in three examples of allele 13 and one allele 14, which is very uncommon. Another allele 14 showed a C to T transition in the third o f nine TCTA repeats. The sequences of three length variations at the HumFGA locus, namely the alleles 16, 19.2 and 21.2 are reported. At the D12S391 l ocus a novel 19.1 allele was found in this study. An extended nomenclature is proposed for the HumVWA locus to denominate sequence variants in a preci se but simple way.