We present a dense STR/linkage disequilibrium(LD)/gene map between the RING3 and HLA-B loci, reference allelic sizes on the most prevalent HLA haplotypes and their allelic frequencies in pedigree founders. This resource will facilitate LD, evolution and gene mapping studies, including comparisons of HLA and STR haplotypes and identification of HLA recombinants. The map was constructed by testing novel and previously reported STRs using a panel of 885 individuals in 211 families and 60 DNA samples from cell lines and bone marrow donors homozygous in the HLA-A, -B and -DR loci selected from over 15 000 entries into the registry of Swedish bone marrow donors. We have also analysed the variability of STR alleles/haplotypes on the most prevalent HLA haplotypes to identify STRs useful for fine mapping of disease genes in the region previously implicated in susceptibility to many disorders. The analysis of 40 HLA-A*01, B*0801, DRB1*03011, DQB1*0201 haplotypes in homozygous donors showed a surprising stability in 23 STRs between the class II recombination hot spot and HLA-B, with the average of 1.9% (16/838) variant alleles. However, 40% variant alleles were found at the D6S2670 locus in intron 19 of the tenascin-X gene both in the families and homozygous donors. The nucleotide sequence analysis of this STR showed a complex polymorphism consisting of tetra- (CTTT)(8-18) and penta-nucleotide (CTTTT)(1-2) repeats, separated by an intervening non-polymorphic sequence of 42 bp. The HLA-A1, B*0801, DRB1*03011, DQB1*0201 haplotypes had five (CTTT)(14-18)/(CTTTT)(2) variants with a predominant (CTTT)(16) allele, implicating the tetranucleotide component as the source of this ancestral haplotype diversification, which may be due to the location of D6S2670 in the region of the highest GC content in the human MHC.

中文翻译：

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HLA中的短串联重复（STR）单倍型：RING3和HLA-B基因之间整合的50 kb STR /连锁不平衡/基因图谱，以及III类区域中STR单倍型多样化的鉴定。

我们提出了一个密集的STR /连锁不平衡（LD）/基因图，在RING3和HLA-B基因座之间，参考了最流行的HLA单倍型的等位基因大小及其在谱系创始人中的等位基因频率。该资源将促进LD，进化和基因作图研究，包括HLA和STR单倍型的比较以及HLA重组子的鉴定。该图谱是通过测试新颖的和先前报道的STR构建而成的，使用了211个科的885个个体组成的小组，并从HLA-A，-B和-DR位点纯合的细胞系和骨髓供体中提取了60个DNA样本，选自15 000多个条目进入瑞典骨髓捐赠者登记处。我们还分析了最流行的HLA单倍型上STR等位基因/单倍型的变异性，以鉴定可用于先前涉及许多疾病易感性区域的疾病基因精细定位的STR。纯合子供体中40个HLA-A * 01，B * 0801，DRB1 * 03011，DQB1 * 0201单倍型的分析显示，II类重组热点和HLA-B之间的23个STR具有惊人的稳定性，平均为1.9％ （16/838）个变异等位基因。然而，在家族和纯合供体中，在腱生蛋白X基因的内含子19的D6S2670基因座上发现了40％的变异等位基因。该STR的核苷酸序列分析显示了由四-（CTTT）（8-18）和五核苷酸（CTTTT）（1-2）重复序列组成的复杂多态性，由42bp的中间非多态性序列隔开。HLA-A1，B * 0801，DRB1 * 03011，