确定马耳他献血者RH血型系统的基因型

Antonella Giordmaina Powney, Joseph Borg, Jesmond Debono
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摘要

目的:Rh血型系统是一个以D、C、C、E、E为最具免疫原性抗原的复杂蛋白质系统。这种血型系统在输血医学中起着至关重要的作用,因此通过DNA分型,当血清学技术失败时,输血实践中的重要医学问题可以得到解决。该研究的目的是利用分子技术确定马耳他献血者RH基因型的频率。方法:本研究共纳入797份献血者样本。采用等位基因特异性聚合酶链反应(AS-PCR)检测RHD、RHCE*E和RHCE*E是否存在,采用多重PCR检测RHCE*C/ C是否存在。& # x0D;结果:在所研究的797个样本中,最常见的等位基因是RHCE*e,占98%。RhD阳性样本中最常见的基因型为DCcee, RhD阴性样本中最常见的基因型为DCcee。最常见的单倍型是DCe。 结论:与以往的研究一样,本研究也得出RH基因型在不同地理区域的分布存在差异的结论。通过更大的样本量和更好的技术,进一步的研究将更好地揭示这些基因座的分子功能。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Determining the Genotype of the RH Blood Group System in Maltese Blood Donors
Aims: The Rh blood group system is a complex protein based system having the D, C, c, E and e as the most immunogenic antigens. This blood group system has a vital role in transfusion medicine thus by DNA typing, important medical issues in transfusion practice can be resolved when serological techniques fail. The aim of the study was to determine the frequency of the RH genotype in the Maltese blood donors using molecular techniques. Methodology: 797 blood donor samples were enrolled in this study. An allele-specific polymerase chain reaction (AS-PCR) method was used to determine the presence of RHD, RHCE*E and RHCE*e, while multiplex PCR was used to test for RHCE*C/c. Results: Out of 797 samples studied, the most common allele was RHCE*e with a percentage of 98. The most common genotype in RhD positive samples was DCcee and in RhD negative samples, the most common was dccee. The most frequent haplotype was DCe. Conclusion: Like in previous studies, this research also concludes that the distribution of the RH genotype varies in different geographical areas. Further studies working with larger sample size and better techniques would share better light on the molecular function of these loci.
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