Hajeer A H, Al Balwi M A, Aytül Uyar F, Alhaidan Y, Alabdulrahman A, Al Abdulkareem I, Al Jumah M
Department of Pathology & Laboratory Medicine, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Tissue Antigens. 2013 Oct;82(4):252-8. doi: 10.1111/tan.12200.
Next generation sequencing (NGS) is a promising technique that can reveal the entire gene sequences and to the highest possible resolution without any phase ambiguities. We have used this technique to investigate the frequencies of HLA-A, -B, -C, -DRB1 and -DQB1 in a Saudi cohort of healthy individuals. We used NGS using the 454 genome sequence (GS) FLX System and Conexio assign atf 454 software to human leukocyte antigen (HLA) genotype eight class I and class II loci. A total of 158 healthy Saudi adults were analyzed. The most frequently observed allele for HLA-A was HLA-A02:01:01:01 (13.6%); for HLA-B, HLA-B50:01:01 (15.8%); for HLA-C, HLA-C06:02:01:01 (18.7%); for HLA-DRB1, HLA-DRB107:01:01:01 (26.6%); and for HLA-DQB1, HLA-DQB102:01:01 (20.3%). The most common four loci haplotypes in the Saudi population were HLA-A24:02:01:01-B08:01:01-C07:02:01:01-DRB103:01:01:01 and HLA-A23:01:01-B50:01:01-C06:02:01:01-DRB1*07:01:01:01.. We have used a highly informative technique for HLA typing of a Saudi healthy cohort to establish allele and haplotype frequencies. These results should prove useful for population studies, disease associations and future planning of the unrelated bone marrow donor registry.
下一代测序（NGS）是一项很有前景的技术，它能够揭示完整的基因序列，且分辨率极高，不存在任何相位模糊问题。我们运用这项技术研究了沙特健康人群队列中HLA - A、- B、- C、- DRB1和 - DQB1的频率。我们使用454基因组序列（GS）FLX系统和Conexio assign atf 454软件对人类白细胞抗原（HLA）的8个I类和II类基因座进行NGS基因分型。共分析了158名健康的沙特成年人。HLA - A最常见的等位基因是HLA - A02:01:01:01（13.6%）；HLA - B是HLA - B50:01:01（15.8%）；HLA - C是HLA - C06:02:01:01（18.7%）；HLA - DRB1是HLA - DRB107:01:01:01（26.6%）；HLA - DQB1是HLA - DQB102:01:01（20.3%）。沙特人群中最常见的四个基因座单倍型是HLA - A24:02:01:01 - B08:01:01 - C07:02:01:01 - DRB103:01:01:01和HLA - A23:01:01 - B50:01:01 - C06:02:01:01 - DRB1*07:01:01:01。我们运用了一种信息量丰富的技术对沙特健康人群队列进行HLA分型，以确定等位基因和单倍型频率。这些结果对于人群研究、疾病关联以及无关骨髓供体登记处的未来规划应会很有用处。
