No abstract

Y-chromosomal short tandem repeats (STRs) are used for the study of male aspects of human evolution as well as for forensic applications and paternity testing. Both applications require an understanding of the underlying mutational mechanisms that create variability. We describe complex mutations at the substructured DYS390 STR locus in 97 natives of the New Guinea/Australian region. Sequencing of short alleles in these populations indicates multirepeat deletions. All samples are further characterized using the five additional Y-STR loci DYS19, DXYS156-Y, DYS391, DYS392, and DYS393. Phylogenetic analysis of the resulting haplotypes yields ethnically specific clusters predating the settlement of Australia and Papua New Guinea (although archaic Homo sapiens or Homo erectus lineages are absent). The phylogeny confirms that DYS390 violates the stepwise mutation model and demonstrates that the DYS390 locus mutates relatively rapidly and retains its variability after structural change.

Population genetic studies in Saudi Arabia are performed for EsD, GPT, AcP, ADA, AK, 6-PGD, PGM, C3, Tf, Hp, Gc, Pi, Bf, Hb, ABO-blood groups and Rh-factor, level of the third component of complement and immunoglobulins. The data are compared with reported frequencies in European and African populations.

In four different popula tions of Spain, the Basques, the Galicians, the Andalusians and in the population of Central Meseta, the genefrequencies of the following geneticmarkers in red cells have been determined and compared: acid phosphatase, adenylate kinase, adenosine deaminase, phosphoglucomutase (locus 1) and 6-phosphogluconate dehydrogenase.

The distribution of phenotypes and gene frequencies of the third component of complement, α₁-antitrypsin, pseudocholinesterase, haptoglobin, group-specific component, transferrin, ceruloplasmin and the ABO blood groups was studied in four Spanish populations, the Basques, the Galicians, the Andalusians and in the population of Central Meseta.