[Sequence variation of D12S391 and D11S554 loci in Guangzhou han population].

To study the core sequence of the hypervariable short tandom repeats, we sequenced the alleles of D12S391 and D11S554 loci which show high mutation rate in Guangzhou Han population. The D12S391 locus has the basic sequence structure (AGAT)8-17 (AGAC)6-10 (AGAT)0-1. The smaller alleles (15-18) at D12S391 locus have variation limited to the number of the first repeat (AGAT), whereas the larger alleles (19-27) have more complex variation in the number not only of the first repeat but also of the other two repeats (AGAC) and (AGAT). Four new alleles named 22", 23", 24"' and 27 respectively were found. The D11S554 locus has more complex core sequence classified into five sequence types. Three of them have the same basic sequence structure (AAAGG) (AAAG)4 (AAAGG)2-3 (AAAG)13-19. In the larger alleles (219-249), there are four and five nucleotide repeats. Some of the larger alleles(219-249) have one base variation, bases insert or deletion. The two loci all have sequence heterogeneity. Our results indicated that the two loci D12S391 and D11S554 belong to complex repeats and this adds difficulty to their correctly typing. It is essential to construct allelic ladder in each population.