基于全外显子组数据的ABO血型的基因判定

全外显子组测序研究已经应用在疾病、药物等方面,是临床研究中一种辅助分子诊断方法。该方法也逐步应用在临床ABO血型的判定中,由于目前临床血型判定的主要方法是血清学,疑难样本判定等问题无法解决,因此分子水平的基因测序方法提高了血型判定的准确性,比如PCR方法和基因芯片方法。为进一步提高ABO血型精细分型的准确性,通过分析全外显子组测序数据,开发了相关的VBA程序,能够快速自动化判定ABO精细分型,并且初步判定结果与临床判定结果一致,可以作为临床血型精确判定的辅助手段。

Gene determination of ABO blood type based on whole exome data

Whole Exome Sequencing (WES) has been applied in diseases and drugs. It is a supplementary molecular diagnostic method in clinical research. This method is also gradually applied to the determination of the clinical ABO blood group. The main method of clinical blood group determination is serology. It is difficult to determine the difficult samples and other problems, so the molecular level gene sequencing method such as the PCR method and the gene chip method improves the accuracy of blood type determination. In order to further improve the accuracy of the subtype of ABO blood group, a related VBA program was developed by analyzing the data of the WES, which could quickly and automatically determine the subtype of ABO blood group. The preliminary results were consistent with the clinical judgment results, which could be used as an auxiliary means for accurate diagnosis of clinical ABO blood group.