Sachdeva Mohinder Pal, Saksena Deepti, Mondal Prakash Ranjan, Meitei Sanjenbam Yaiphaba, Saraswathy Kallur Nava
Biochemical and Molecular Anthropology Laboratory, Department of Anthropology, University of Delhi (North Campus), Delhi, India.
Anthropol Anz. 2013;70(1):15-26. doi: 10.1127/0003-5548/2012/0178.
In the recent years, haplotype studies have emerged as a critical tool for studying the human migratory patterns. Dopamine D2 receptor (DRD2) and Ankyrin Repeat and Kinase Domain Containing 1 (ANKK1) genes, which also bear specific clinical implications in various neuropsychiatric and behavioural/addictive disorders, are significant nuclear DNA markers for studying human genome diversity. The present study was conducted in order to understand the distribution pattern of the three DRD2 and ANKK1 TaqI sites and also the frequencies of their haplotypes among Oraons (n = 48) and Mundas (n = 50)--the two linguistically distinct tribal population groups of Jharkhand. The phylogenetic inference was drawn through the statistical comparisons of the present DRD2 and ANKK1 TaqI site data with the available data from population groups belonging to other parts of India and also rest of the world (ALFRED Database). All the three TaqI sites were found to be polymorphic among Oraons and Mundas with relatively high average heterozygosities. Oraons exhibited a comparatively higher frequency of the ancestral B2D2A1 haplotype (0.356) than the Mundas (0.193). Significant and higher linkage disequilibrium (LD) values between all three sites were observed among Mundas which is indicative of admixture, whereas Oraons exhibited non significant and low LD values. The presence of ancestral haplotype B2D2A1 in higher frequency and lower and non-significant LD among Oraons suggest that they might be the older inhabitants in the region though the major limitation of the study is small sample size which might have introduced bias in the accuracy of the calculated pairwise LD for the three polymorphic sites.
近年来,单倍型研究已成为研究人类迁徙模式的关键工具。多巴胺D2受体(DRD2)和含锚蛋白重复序列和激酶结构域1(ANKK1)基因在各种神经精神和行为/成瘾性疾病中也具有特定的临床意义,是研究人类基因组多样性的重要核DNA标记。本研究旨在了解三个DRD2和ANKK1 TaqI位点的分布模式以及它们在奥拉昂人(n = 48)和蒙达人(n = 50)中的单倍型频率,这两个群体是贾坎德邦两个语言不同的部落群体。通过将目前的DRD2和ANKK1 TaqI位点数据与来自印度其他地区以及世界其他地区(ALFRED数据库)人群的现有数据进行统计比较,得出系统发育推断。在奥拉昂人和蒙达人中发现所有三个TaqI位点均具有多态性,平均杂合度相对较高。与蒙达人(0.193)相比,奥拉昂人表现出相对较高频率的祖先B2D2A1单倍型(0.356)。在蒙达人中观察到所有三个位点之间存在显著且更高的连锁不平衡(LD)值,这表明存在混合现象,而奥拉昂人表现出不显著且较低的LD值。奥拉昂人较高频率的祖先单倍型B2D2A1以及较低且不显著的LD表明他们可能是该地区的原住民,不过该研究的主要局限性是样本量较小,这可能在计算三个多态性位点的成对LD准确性方面引入了偏差。