Gogri Harita, Ray Sabita, Agrawal Snehal, Aruna S, Ghosh Kanjaksha, Gorakshakar Ajit
Department of Transfusion Medicine, National Institute of Immunohaematology, Indian Council of Medical Research, Mumbai, Maharashtra, India.
Asian J Transfus Sci. 2018 Jan-Jun;12(1):62-68. doi: 10.4103/ajts.AJTS_12_17.
Molecular genotyping of ABO blood group system has identified more than 60 "O" group alleles based on the single-nucleotide polymorphisms present in the ABO gene. Heterogeneity of O group alleles has been observed in various countries from South America, Europe, Middle East, and Asia. India is a vast country with more than 1300 million population which is divided into various ethnic and tribal groups. However, very little is known about the heterogeneity of O alleles in Indians.
A total of 116 O group individuals from the mixed population of Mumbai, India, were enrolled in the present study. DNA was extracted using the standard phenol-chloroform method. The exons 6 and 7 of the ABO gene were genotyped by polymerase chain reaction-single-strand conformation polymorphism and/or DNA sequencing. The genotyping results were compared with our earlier findings.
Overall, ten different genotypes were identified. Three rare alleles, namely, O05, O11, and O26 were seen in the mixed group category. These results suggest that there is an internal heterogeneity in the mixed group while Dhodias and Parsis, the groups which were screened earlier, seem to be more homogenous groups. An important piece of information emerges out from this study, that is, O01O02 genotype is expressing some selective force in population groups screened in India as well as many other groups worldwide.
In the future, molecular genotyping of the ABO blood group system among different ethnic and tribal Indian groups would help in generating data to fill up the gaps in the molecular ABO map of the world.
ABO血型系统的分子基因分型已基于ABO基因中存在的单核苷酸多态性鉴定出60多种“O”型等位基因。在南美洲、欧洲、中东和亚洲的各个国家都观察到了O型等位基因的异质性。印度是一个拥有超过13亿人口的大国,分为不同的民族和部落群体。然而,对于印度人O等位基因的异质性知之甚少。
本研究纳入了来自印度孟买混合人群的116名O型个体。使用标准酚氯仿法提取DNA。通过聚合酶链反应-单链构象多态性和/或DNA测序对ABO基因的外显子6和7进行基因分型。将基因分型结果与我们早期的发现进行比较。
总体而言,鉴定出了十种不同的基因型。在混合组类别中发现了三种罕见等位基因,即O05、O11和O26。这些结果表明混合组存在内部异质性,而早期筛查的Dhodias和Parsis组似乎是更同质的群体。这项研究得出了一条重要信息,即O01O02基因型在印度筛查的人群组以及世界上许多其他群体中都表现出某种选择力。
未来,对不同印度民族和部落群体的ABO血型系统进行分子基因分型将有助于生成数据,以填补世界分子ABO图谱中的空白。