Singh Gagandeep, Talwar Indu, Sharma Rubina, Matharoo Kawaljit, Bhanwer A J S
Department of Anthropology, Panjab University, Chandigarh, 160014, India.
Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, 143005, India.
Mol Genet Genomics. 2016 Dec;291(6):2055-2063. doi: 10.1007/s00438-016-1239-3. Epub 2016 Aug 9.
The state of Punjab in the North-West part of India has acted as the main passage for all the major human invasions into the Indian subcontinent. It has resulted in the mixing of foreign gene pool into the local populations, which led to an extensive range of genetic diversity and has influenced the genetic structure of populations in Punjab, North-West India. The present study was conducted to examine the genetic structure, relationships, and extent of genetic differentiation in five Indo-European speaking ethnic groups of Punjab. A total of 1021 unrelated samples belonging to Banias, Brahmins, Jat Sikhs, Khatris, and Scheduled castes were analyzed for four human-specific Ins/Del polymorphic loci (ACE, APO, PLAT, and D1) and three restriction fragment length polymorphisms ESR (PvuII), LPL (PvuII), and T2 (MspI) using Polymerase chain reaction (PCR). All the loci were found to be polymorphic among the studied populations. The frequency of the Alu insertion at APO locus was observed to exhibit the highest value (82.6-96.3 %), whereas D1 exhibited the lowest (26.5-45.6 %) among all the ethnic groups. The average heterozygosity among the studied populations ranged from 0.3816 in Banias to 0.4163 in Khatris. The F values ranged from 0.0418 to 0.0033 for the PLAT and LPL loci, respectively, with an average value being 0.0166. Phylogenetic analysis revealed that Banias and Khatris are genetically closest to each other. The Jat Sikhs are genetically close to Brahmins and are distant from the Banias. The Jat Sikhs, Banias, Brahmins, and Khatris are genetically very distant from the Scheduled castes. Overall, Uniform allele frequency distribution patterns, high average heterozygosity values, and a small degree of genetic differentiation in this study suggest a genetic proximity among the selected populations. A low level of genetic differentiation was observed in the studied population groups indicating that genetic drift might have been small or negligible in shaping the genetic structure of North-West Indian Populations.
印度西北部的旁遮普邦一直是所有主要人类入侵印度次大陆的主要通道。这导致了外来基因库与当地人口的混合，从而产生了广泛的遗传多样性，并影响了印度西北部旁遮普邦人口的遗传结构。本研究旨在考察旁遮普邦五个说印欧语系语言的族群的遗传结构、亲缘关系以及遗传分化程度。使用聚合酶链反应（PCR）对总共1021份属于班尼亚斯、婆罗门、贾特锡克教徒、卡特里以及在册种姓的无关样本，分析了四个人类特异性插入/缺失多态性位点（ACE、APO、PLAT和D1）以及三个限制性片段长度多态性ESR（PvuII）、LPL（PvuII）和T2（MspI）。在所研究的人群中，所有位点均为多态性。在所有族群中，观察到APO位点上Alu插入的频率呈现出最高值（82.6 - 96.3%），而D1位点的频率最低（26.5 - 45.6%）。所研究人群的平均杂合度范围从班尼亚斯的0.3816到卡特里的0.4163。PLAT和LPL位点的F值分别为0.0418至0.0033，平均值为0.0166。系统发育分析表明，班尼亚斯和卡特里在基因上彼此最接近。贾特锡克教徒在基因上与婆罗门接近，与班尼亚斯距离较远。贾特锡克教徒、班尼亚斯、婆罗门和卡特里在基因上与在册种姓距离非常远。总体而言，本研究中均匀的等位基因频率分布模式、较高的平均杂合度值以及较小程度的遗传分化表明所选人群之间存在遗传相似性。在所研究的人群组中观察到较低水平的遗传分化，这表明在塑造印度西北部人群的遗传结构方面，遗传漂变可能很小或可忽略不计。
