Mastana Sarabjit S, Bhatti Jasvinder S, Singh Puneetpal, Wiles Adam, Holland Jonathan
a Human Genomics Lab , School of Sport, Exercise and Health Sciences, Loughborough University , Loughborough , UK.
b Department of Biotechnology and Bioinformatics , Sri Guru Gobind Singh College, Sector 26 , Chandigarh , India.
Ann Hum Biol. 2017 Sep;44(6):562-567. doi: 10.1080/03014460.2017.1302507. Epub 2017 Mar 24.
Alu elements are highly researched due to their useful nature as markers in the study of human population genetics. Recently discovered Major Histocompatibility Complex (MHC) polymorphic Alu insertions (POALINs) have not been examined extensively for genetic variation and their HLA associations.
The aim of this study is to assess the genetic variation between three populations using five recently discovered POALINs.
The study examined 190 healthy, unrelated subjects from three different populations in the East Midlands (UK) for the presence or absence of five Alu elements (AluHG, AluMICB, AluHJ, AluTF and AluHF) via the polymerase chain reaction followed by gel electrophoresis. Data were analysed for genetic variation and phylogenetic analyses.
All Alus were polymorphic in study populations. Appreciable allele frequency variation was observed at a number of loci. The British population was significantly different from both the Punjabi Jat Sikh and Gujarati Patel populations, although showing a closer genetic relationship to the Punjabi Jat Sikh population than the Gujarati Patel population (Nei's D = 0.0031 and 0.0064, respectively).
MHC POALINs are useful markers in the investigation of genetic variation and the assessment of population relationships, and may have some bearing on disease associations due to their linkage disequilibrium with HLA loci; this warrants further studies.
由于Alu元件在人类群体遗传学研究中作为标记具有实用价值，因此受到了广泛研究。最近发现的主要组织相容性复合体（MHC）多态性Alu插入序列（POALINs）尚未对其遗传变异及其与HLA的关联进行广泛研究。
本研究的目的是使用五个最近发现的POALINs评估三个人群之间的遗传变异。
本研究通过聚合酶链反应和凝胶电泳检测了来自英国东米德兰兹三个不同人群的190名健康、无亲缘关系的受试者是否存在五种Alu元件（AluHG、AluMICB、AluHJ、AluTF和AluHF）。对数据进行遗传变异分析和系统发育分析。
在研究人群中，所有Alu元件均具有多态性。在多个位点观察到明显的等位基因频率变异。英国人群与旁遮普贾特锡克族和古吉拉特帕特尔族人群均存在显著差异，尽管与旁遮普贾特锡克族人群的遗传关系比与古吉拉特帕特尔族人群更近（Nei氏遗传距离分别为0.0031和0.0064）。
MHC POALINs是研究遗传变异和评估人群关系的有用标记，由于它们与HLA位点存在连锁不平衡，可能与疾病关联有关；这值得进一步研究。
