- •A sequenced based nomenclature was established for eight STR-loci located on chromosome 6 (6p21.3).
- •Sequenced reference DNA samples enable the construction of allelic ladders.
- •Sequence and length polymorphism was studied in an Austrian population sample.
- •The loci cover the HLA-coding region from HLA-A to HLA-DQB1 can be used for clinical, genetic and forensic applications.
Sequenced allelic ladders are a prerequisite for reliable genotyping of short tandem repeat (STR) polymorphisms and consistent results across instrument platforms. For eight STR-loci located on the short arm of chromosome 6 (6p21.3), a sequenced based nomenclature was established according to international recommendations. Publicly available reference DNA samples were sequenced enabling interested laboratories to construct their own allelic ladders. Three tetrameric (D6S2691, D6S2678, DQIV), one trimeric (D6S2906) and four dimeric repeat loci (D6S2972, D6S2792, D6S2789, D6S273) were investigated. Apart from the very complex sequence structure at the DQIV locus, three loci showed a compound and four loci a simple repeat pattern. In the flanking regions of some loci additional single nucleotide and insertion/deletion polymorphisms occurred as well as sequence polymorphisms within the repeat region of alleles with the same length. In an Austrian Caucasoid population sample (n = 293) between eight and 22 alleles were found. No significant deviation from Hardy–Weinberg expectations was observed, the power of discrimination ranged from 0.826 to 0.978. The loci cover the HLA-coding region from HLA-A to HLA-DQB1 and can be used for a better definition of HLA haplotypes for population and disease association studies, recombination point mapping, haematopoietic stem cell transplantation as well as for identity and relationship testing.
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Published online: October 18, 2014
Accepted: October 13, 2014
Received in revised form: September 23, 2014
Received: April 22, 2014
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