Ellis J M, Mack S J, Leke R F, Quakyi I, Johnson A H, Hurley C K
Department of Microbiology and Immunology, Georgetown University Medical Center, Washington, DC 20007, USA.
Tissue Antigens. 2000 Oct;56(4):291-302. doi: 10.1034/j.1399-0039.2000.560401.x.
To examine the genetic diversity in west Africa, class I HLA-A and HLA-B alleles of 92 unrelated individuals from two areas in the Cameroon, the capital Yaoundé and the village of Etoa, were identified by direct automated DNA sequencing of exons 2 and 3 of the HLA-B locus alleles and sequence-specific oligonucleotide probe (SSOP) and/or sequencing of the HLA-A locus alleles. HLA-A2301 (18.7%), A2902 (10.4%), B5301 (10.9%), and B5802 (10.9%) were the most frequently detected alleles, present in at least 10% of the population. A total of 30 HLA-A locus and 33 HLA-B locus alleles, including six novel alleles, were detected. The novel alleles were HLA-A03012, A2612, A3006 and HLA-B1403, B4016, and B4703. HLA-B*4703 contains a novel amino acid sequence that is a combination of the first 5 amino acids of the Bw6 epitope and the last 2 residues of the Bw4 epitope. The addition of 6 alleles to the ever-expanding number of known class I HLA alleles supports our hypothesis that extensive genetic diversity, including previously undescribed alleles, would be observed in this African population. In the Yaoundé population, the allele frequency distribution at the HLA-A locus is consistent with distributions indicative of balancing selection. Extensive HLA-A-B haplotypes were observed in this population suggesting that only a fraction of the Cameroon HLA-A-B haplotype diversity has been observed.
为研究西非的基因多样性,通过对HLA - B基因座等位基因的外显子2和3进行直接自动化DNA测序以及对HLA - A基因座等位基因进行序列特异性寡核苷酸探针(SSOP)和/或测序,确定了来自喀麦隆两个地区(首都雅温得和埃托阿村)的92名无关个体的I类HLA - A和HLA - B等位基因。HLA - A2301(18.7%)、A2902(10.4%)、B5301(10.9%)和B5802(10.9%)是最常检测到的等位基因,在至少10%的人群中存在。共检测到30个HLA - A基因座和33个HLA - B基因座等位基因,包括6个新等位基因。新等位基因是HLA - A03012、A2612、A3006以及HLA - B1403、B4016和B4703。HLA - B*4703包含一种新的氨基酸序列,它是Bw6表位的前5个氨基酸与Bw4表位的最后2个残基的组合。向不断增加的已知I类HLA等位基因数量中添加6个等位基因,支持了我们的假设,即在这个非洲人群中会观察到广泛的基因多样性,包括先前未描述的等位基因。在雅温得人群中,HLA - A基因座的等位基因频率分布与指示平衡选择的分布一致。在该人群中观察到了广泛的HLA - A - B单倍型,这表明喀麦隆HLA - A - B单倍型多样性中只有一部分被观察到。