Mumtaz Mah Noor, Ihsan Haleema, Aziz Shahid, Afridi Sahib Gul, Shams Sulaiman, Khan Asifullah
Department of Biochemistry, Abdul Wali Khan University, Mardan 23200, Khyber Pakhtunkhwa, Pakistan.
Mitochondrial DNA B Resour. 2019 Oct 26;4(2):3802-3808. doi: 10.1080/23802359.2019.1682474.
The present study aimed to gain insight into the genetic origin of the Shina population from Gilgit-Baltistan, Pakistan. We partially performed the mitochondrial DNA (mtDNA) control region of healthy unrelated individuals of Shina tribe residing in the remote area of Gilgit-Baltistan to investigate their maternal lineages. The present study is the first report about Shina's genetic structure, origin, and relationship with the surrounding north-western Pakistani population. The mtDNA sequences of the Shina samples were compared with the revised Cambridge Reference Sequence (rCRS) and the HVR-1 D-loop region was covered. The comparison with rCRS identified overall 38 haplotypes and 08 haplogroups for Shina samples. Among these haplotypes, 18 were shared by more than one individual of the Shina tribe. The obtained mtDNA sequences of Shina were compared with surrounding north-western Pakistani population groups, i.e. Kho, Kashmiri, and Pathan. The genetic diversity (i.e. 1.0424) and power of discrimination (i.e. 0.9266) of the Shina was found equivalent to surrounding north-western groups. The haplogroups frequencies, phylogenetic tree and network analysis identified the west Eurasian ancestral origin of Shina group with nearby maternal ancestral relationships with the Kashmiri population. However, no close genetic relationship of Shina was depicted with nearby residing Kho population group.
本研究旨在深入了解来自巴基斯坦吉尔吉特-巴尔蒂斯坦的希纳族的遗传起源。我们对居住在吉尔吉特-巴尔蒂斯坦偏远地区的希纳部落健康无关个体的线粒体DNA（mtDNA）控制区进行了部分测序，以调查他们的母系血统。本研究是关于希纳族遗传结构、起源以及与巴基斯坦西北部周边人群关系的首份报告。将希纳样本的mtDNA序列与修订后的剑桥参考序列（rCRS）进行比较，并覆盖了高变区1（HVR-1）D环区域。与rCRS的比较共鉴定出希纳样本的38种单倍型和8个单倍群。在这些单倍型中，有18种为希纳部落的多个个体所共有。将获得的希纳族mtDNA序列与巴基斯坦西北部周边人群，即科族、克什米尔族和普什图族进行比较。发现希纳族的遗传多样性（即1.0424）和鉴别力（即0.9266）与西北部周边人群相当。单倍群频率、系统发育树和网络分析确定了希纳族群体的西欧亚祖先起源，以及与克什米尔人群在母系祖先方面的密切关系。然而，未发现希纳族与居住在附近的科族人群有密切的遗传关系。
