Centre for Forensic Science, The University of Western Australia, Nedlands, Western Australia, 6008, Australia.
Immunogenetics. 2010 Apr;62(4):211-30. doi: 10.1007/s00251-010-0427-2. Epub 2010 Feb 20.
Polymorphic insertion frequencies of the retrotransposons known as the "SVA" elements were investigated at four loci in the MHC class I genomic region to determine their allele and haplotype frequencies and associations with the HLA-A, -B or -C genes for 100 Japanese, 100 African Americans, 174 Australian Caucasians and 66 reference cell lines obtained from different ethnic groups. The SVA insertions representing different subfamily members varied in frequency between none for SVA-HF in Japanese and 65% for SVA-HB in Caucasians or African Americans with significant differences in frequencies between the three populations at least at three loci. The SVA loci were in Hardy-Weinberg equilibrium except for the SVA-HA locus which deviated significantly in African Americans and Caucasians possibly because of a genomic deletion of this locus in individuals with the HLA-A24 allele. Strong linkage disequilibria and high percentage associations between the human leucocyte antigen (HLA) class I gene alleles and some of the SVA insertions were detected in all three populations in spite of significant frequency differences for the SVA and HLA class I alleles between the three populations. The highest percentage associations (>86%) were between SVA-HB and HLA-B08, -B27, -B37 to -B41, -B52 and -B53; SVA-HC and HLA-B07; SVA-HA and HLA-A03, -A11 and -A30; and SVA-HF and HLA-A03 and HLA-B*47. From pairwise associations in the three populations and the homozygous cell line results, it was possible to deduce the SVA and HLA class I allelic combinations (haplotypes), population differences and the identity by descent of several common HLA-A allelic lineages.
研究了在 MHC Ⅰ类基因组区域的四个基因座中已知的逆转录转座子“SVA”元件的多态性插入频率，以确定它们的等位基因和单倍型频率，并与 HLA-A、-B 或-C 基因在 100 名日本人、100 名非裔美国人、174 名澳大利亚白人和 66 名来自不同种族的参考细胞系中的关联。在日本，SVA-HF 不存在插入，而在白人和非裔美国人中，SVA-HB 的插入频率为 65%，不同亚家族成员的 SVA 插入频率在三个群体之间存在显著差异，至少在三个基因座上存在差异。SVA 基因座处于哈迪-温伯格平衡状态，除了 SVA-HA 基因座，该基因座在非裔美国人和白人群体中显著偏离，这可能是由于 HLA-A24 等位基因个体的该基因座缺失所致。尽管三个群体之间 SVA 和 HLA Ⅰ类等位基因的频率存在显著差异，但在所有三个群体中都检测到人类白细胞抗原（HLA）Ⅰ类基因等位基因和某些 SVA 插入之间的强连锁不平衡和高百分比关联。在三个群体中，SVA-HB 与 HLA-B08、-B27、-B37 至 -B41、-B52 和 -B53；SVA-HC 与 HLA-B07；SVA-HA 与 HLA-A03、-A11 和 -A30；SVA-HF 与 HLA-A03 和 HLA-B*47 之间的关联百分比最高（>86%）。从三个群体的成对关联和纯合细胞系结果中，可以推断出 SVA 和 HLA Ⅰ类等位基因组合（单倍型）、群体差异以及几个常见 HLA-A 等位基因谱系的血缘关系。
