Abstract: Objective To investigate the clinical significance of third-generation gene sequencing (TGS) in detecting Kidd blood group antigen in weakly expressed samples. Methods Samples of patients in Xinjiang Autonomous Region People's Hospital were collected, Jka and Jkb antigens were detected by serological methods, and 9 cases of weakly expressed samples of Kidd blood group genes were subjected to full-length single-molecule real-time sequencing technology (third-generation high-throughput sequencing) to obtain their gene polymorphisms and statistically analyzed. Results The main mutation sites of the Kidd blood group gene were detected in this study: c.588A>G, c.838G>A, and c.130G>A. In addition, 5 samples were found to have new gene mutation types, with 2 being homozygous and 3 heterozygous. The new mutation gene types were: c.499A>G, c.588A>G, and c.838G>A, which are mainly seen in the Jk(b+) phenotype. The allele name for the new mutation is JK*02.NEW. In 9 samples, 7 of the genetic test results were different from the serological results, and all of them had ISBT-recorded or unrecorded gene mutation sites. At the same time, the specificity of the mutation gene sites and the corresponding amino acid changes were summarized and analyzed. Conclusion The present study investigated the mutation, splicing, folding, and amino acid sequence of the Kidd gene in the Xinjiang population. This research lays a solid foundation for gaining further insights into the specificity of blood groups in this region and provides a fundamental basis for future construction of three-dimensional protein models.

Key words: Kidd blood type, Antigen, Genes, Amino acid