Liang Shuang, Su Yu-Qing, Liang Yan-Lian, Wu Fan, Zhang Hao, Shi Jia-Hai, Hong Wen-Xu, Xu Yun-Ping
Shenzhen Institute of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, China.
Business Department, Shenzhen Blood Center, Shenzhen, China.
Ann Transl Med. 2020 Oct;8(19):1242. doi: 10.21037/atm-20-6504.
The Kidd (JK) blood group is critical for clinical blood transfusion. Various methods for Jk typing have been commonly used, including urea hemolysis, serological test, and genotyping. However, the application of molecular methods has so far been restricted to selected samples and not been applied to the population-scale analysis.
One hundred eighty-three blood samples, containing 174 samples collected from voluntary blood donors of Chinese Han individuals, together with 3 Jk (aw+b-) and 6 Jk (a-b-) samples, were investigated by standard serology urea hemolysis test and Sanger-sequencing. Complete coverage of exons 4-11 and intron-exon borders have been sequenced.
We report the frequencies of three SNPs in exon 4, 7, and intron 9. Besides, sequence analysis revealed the simultaneous DNA variants of intron 7 (-68) and exon 9 (838) found in all samples, suggesting the co-inheritance of these SNPs-taking the observed SNPs frequencies into account. Further, we discuss the potential of the sequencing technique for high-resolution genotyping.
The described sequencing method for Jk exons delivers a genotyping technique for Jk molecular characterization. According to the co-inheritance of these DNA variants in intron 7 (-68) and exon 9 (838), and their regularity linkage with Jk phenotypes, these two sites offer a potential sequencing target for rapid and far more simplified Jk typing that can supplement routine serology and urea hemolysis tests.
基德（JK）血型系统对临床输血至关重要。目前常用多种Jk分型方法，包括尿素溶血试验、血清学检测和基因分型。然而，分子方法的应用至今仅限于特定样本，尚未应用于大规模人群分析。
采用标准血清学尿素溶血试验和桑格测序法，对183份血样进行研究，其中包括174份来自中国汉族无偿献血者的样本，以及3份Jk（aw+b-）和6份Jk（a-b-）样本。对第4至11外显子及内含子-外显子边界进行了全面测序。
我们报告了第4、7外显子和第9内含子中三个单核苷酸多态性（SNP）的频率。此外，序列分析显示在所有样本中均发现第7内含子（-68）和第9外显子（838）同时存在DNA变异，考虑到观察到的SNP频率，提示这些SNP可能共同遗传。此外，我们还讨论了测序技术用于高分辨率基因分型的潜力。
所描述的Jk外显子测序方法为Jk分子特征鉴定提供了一种基因分型技术。根据第7内含子（-68）和第9外显子（838）中这些DNA变异的共同遗传以及它们与Jk表型的规律性连锁，这两个位点为快速且更为简化的Jk分型提供了潜在的测序靶点，可作为常规血清学和尿素溶血试验的补充。
