AN INVESTIGATION ON THE DETECTION OF HUMAN LEUCOCYTE ANTIGEN HLA CLASS I LOCI (A, B, C) AND CLASS II LOCI (DR, DQ) ALLELE FREQUENCY IN NEPALESE POPULATION BY NEXT GENERATION SEQUENCING

Smita Shrestha, Dr. Manish Maurya, D. K. D. Manandhar
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Abstract

Introduction:Human Leucocyte antigen (HLA) has offered tremendous contribution to the human population by providing definite and  undeniable facts of immense magnitude in relation to human genetics, in disease dynamics and also in transfusion and transplantation. Materials and Methods: Blood samples of 90 unrelated healthy population residing in kathmandu, a central region of Nepal werecollected .DNA was extracted from the blood samples and  the allele frequency for HLA class I loci(HLA –A,-B,-C,) and II loci (DRB1 and DRQ1) was studied byion torrent Next Generation Sequencing platform using  GenDxNGSgoRworkflow.Further,the comparison between the most frequently detected HLA alleles in Nepalese population with population of neighboring countries were also done. Results: A total of 10 HLA *A alleles, 18 HLA*B allels,11 HLA*C alleles,11 HLA*DRB1 and 4 HLA*DQB1 were detected. The most common alleles detected were HLA A*01(16.67%), A *33(31.67%),HLA B*35(13.33%) B*44(11.67%) HLA C* 04(16.67%),C*07(23.33%),C*15(16.67%).HLA - DR*07(16.67%) ,DR*15(25.0%) HLA-DQ *05(38.33%) respectively. Comparison with population of the neighboring countries and Caucasian population revealed that these common alleles were also present in high frequency in North Indian Hindus and in some frequencies with Mongolian and Caucasian population but not with the Chinese population. Discussion: We believe that this data is the first report of HLA class I loci(HLA A,B,C) and II loci (DR*B1 and DQ*B1)  in healthy population from Nepal and this will provide useful information withdiverse applications in Nepal.
尼泊尔人白细胞抗原hla I类位点(a、b、c)和ii类位点(dr、dq)等位基因频率的次世代测序研究
人类白细胞抗原(HLA)通过提供与人类遗传学、疾病动力学以及输血和移植相关的巨大数量的明确和不可否认的事实,为人类提供了巨大的贡献。材料与方法:采集尼泊尔中部地区加德满都90例无亲缘关系健康人群的血液样本,提取血样中的dna,利用GenDxNGSgoRworkflow,利用ion torrent Next Generation Sequencing平台研究HLA I类位点(HLA -A、-B、-C、)和II类位点(DRB1和DRQ1)的等位基因频率。此外,还将尼泊尔人群中最常检测到的HLA等位基因与邻国人群进行了比较。结果:共检测到HLA* A等位基因10个,HLA*B等位基因18个,HLA*C等位基因11个,HLA*DRB1等位基因11个,HLA*DQB1等位基因4个。检出最多的等位基因为HLA A*01(16.67%)、A* 33(31.67%)、HLA B*35(13.33%)、B*44(11.67%)、HLA C* 04(16.67%)、C*07(23.33%)、C*15(16.67%)。HLA- DR*07(16.67%)、DR*15(25.0%)、HLA- dq *05(38.33%)。与周边国家人群和高加索人群的比较发现,这些共同等位基因在北印度教徒中也有较高的频率,在蒙古和高加索人群中也有一定的频率,但在中国人群中没有。讨论:我们认为该数据是尼泊尔健康人群HLA I类位点(HLA A,B,C)和II类位点(DR*B1和DQ*B1)的首次报告,这将为尼泊尔的多种应用提供有用的信息。
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