Equipe des Sciences Anthropogénétiques et Biotechnologies, Département de Biologie, Faculté des sciences, Université Chouaïb Doukkali, El Jadida, Morocco.
Int J Immunogenet. 2022 Jun;49(3):209-214. doi: 10.1111/iji.12571. Epub 2022 Feb 2.
This study aimed to analyse, for the first time, five MHC class II polymorphic Alu insertions in a population with a strong Sub-Saharan African genetic background: the Ngazidja islanders and compare its allelic and haplotypic data with Worldwide populations. The genotyping was performed in 80 individuals, using simple PCR and agarose gel electrophoresis methods. Allele and haplotype frequencies, genetic diversity, Hardy-Weinberg equilibrium deviations, normalized deviate of homozygotes and pairwise linkage disequilibrium were estimated. The phylogenetic analyses included the available population data. In Ngazidja, the MHC class II Alu insertion frequencies ranged from 0.119 for AluORF10 to 0.588 for AluDPB2. Concerning haplotypes, the most predominant were the ones with only the AluDPB2 insertion allele (AluDPB22-AluDQA21-AluDQA11-AluDRB11-AluORF101), followed by the theoretical ancestral haplotype with no Alu insertions (AluDPB21-AluDQA21-AluDQA11-AluDRB11-AluORF101) and finally the haplotype with the AluDPB2 and AluDQA1 Alu insertions (AluDPB22-AluDQA21-AluDQA12-AluDRB11-AluORF10*1) with frequencies of 19.2%, 15% and 12.9%, respectively. In the phylogenetic analyses, our results indicate that the Ngazidja people are genetically differentiated from the other populations of the analysis; we found also a new haplotype that can be probably characteristic of Sub-Saharans and finally confirm the usefulness of these markers as genetic and evolutionary tools for studying genetic variations among populations of different origins.
这项研究首次分析了在一个具有强烈撒哈拉以南非洲遗传背景的人群中,即 Ngazidja 岛民的五个 MHC Ⅱ类多态性 Alu 插入。将其等位基因和单倍型数据与世界其他人群进行比较。通过简单的 PCR 和琼脂糖凝胶电泳方法,在 80 名个体中进行基因分型。估计了等位基因和单倍型频率、遗传多样性、哈迪-温伯格平衡偏离、纯合子归一化偏差和成对连锁不平衡。系统发育分析包括现有的种群数据。在 Ngazidja,MHC Ⅱ类 Alu 插入频率范围从 0.119(AluORF10)到 0.588(AluDPB2)。就单倍型而言,最主要的是仅具有 AluDPB2 插入等位基因的单倍型(AluDPB22-AluDQA21-AluDQA11-AluDRB11-AluORF101),其次是没有 Alu 插入的理论祖先单倍型(AluDPB21-AluDQA21-AluDQA11-AluDRB11-AluORF101),最后是具有 AluDPB2 和 AluDQA1 Alu 插入的单倍型(AluDPB22-AluDQA21-AluDQA12-AluDRB11-AluORF10*1),频率分别为 19.2%、15%和 12.9%。在系统发育分析中,我们的结果表明,Ngazidja 人在遗传上与分析中的其他人群不同;我们还发现了一个新的单倍型,可能是撒哈拉以南人群的特征,最后证实了这些标记作为遗传和进化工具,用于研究不同起源人群的遗传变异是有用的。