Abstract：
The Punjabi population, constituting over 45 % of the country\'s total population, holds the highest prevalence in Pakistan. To understand their HLA genetics, we genotyped 389 Punjabi subjects for major Class-I loci using the PCR-SSO Luminex® method. Our study identified a total of 162 alleles, including 41 different HLA-A, 72 HLA-B, and 49 HLA-C alleles. The most common alleles included A*11:01 (14.6 %), A*01:01 (11.8 %), A*24:02 (11.3 %); B*40:06 (13.3 %), B*08:01 (10.9 %), B*51:01 (8.7 %); C*15:02 (15.5 %), C*07:02 (15.3 %), and C*04:01 (10.8 %). However, only locus B showed a significant deviation from HWE. The dominant Class I haplotype was A*24:02-B*40:06-C*15:02, followed by A*11:01-B*40:06-C*15:02, while significant LD was observed between all pairs of HLA loci. A distinct genetic makeup was observed in the Pakistani Punjabis as compared to Indian Punjabis, emphasizing the impact of the Indo-Pak partition and religious choices for marriage. In comparison to country\'s other ethnic groups, the Pakistani population exhibited 76 different alleles at a low field-resolution, with the Punjabi population having highest polymorphism. Phylogenetic analysis revealed that the Punjabi population is most closely related to the Sindhi population, while both populations sharing ancient connections with the Burusho population. These findings have significant implications for transplantation procedures, personalized medicine, disease susceptibility, and evolutionary studies.
摘要：
旁遮普人,占全国总人口的45%以上，在巴基斯坦流行率最高。为了了解他们的HLA遗传学，我们使用PCR-SSOLuminex®方法对389名旁遮普受试者的主要I类基因座进行了基因分型。我们的研究确定了总共162个等位基因，包括41种不同的HLA-A,72HLA-B，和49个HLA-C等位基因。最常见的等位基因包括A*11:01（14.6％），A*01:01(11.8%)，A*24:02（11.3%）；B*40:06（13.3%），B*08:01（10.9%），B*51:01(8.7%)；C*15:02(15.5%)，C*07：02（15.3%），和C*04:01（10.8%）。然而,只有基因座B显示与HWE的显着偏差。显性I类单倍型为A*24:02-B*40:06-C*15:02,随后为A*11:01-B*40:06-C*15:02,同时在所有HLA基因座对之间观察到显著的LD。与印度旁遮普相比，在巴基斯坦旁遮普人中观察到了独特的遗传组成，强调印巴分治和宗教选择对婚姻的影响。与国家的其他种族相比，巴基斯坦人口在低分辨率下展示了76个不同的等位基因，旁遮普族的多态性最高。系统发育分析显示，旁遮普语种群与信德人种群关系最密切，而这两个人口与Burusho人口有着古老的联系。这些发现对移植程序有重要意义，个性化医疗，疾病易感性,和进化研究。
