A novel homozygous splice-site mutation of JK gene leads to Jk(a-b-) phenotype
A novel homozygous splice-site mutation of JK gene leads to Jk(a-b-) phenotype
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DOI：
10.1111/tme.13016
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发表时间：
2023
期刊：
影响因子：
--
通讯作者：
Luyi Ye
中科院分区：
文献类型：
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作者：
Jiaxuan Yang;Lina Ni;Aijing Li;Minghao Li;Shulin Ruan;Dong Xiang;Ziyan Zhu;Luyi Ye
Objectives: This study aimed to investigate the molecular mechanism of the Jk(a-b-) phenotype in a Chinese transfusion patient...Background: Many different mutation types relating to Jk(a-b-) phenotype have been reported. However, the splice-site mutation is relatively rare and the related functional verification is lacking...Materials and methods: In this study, the blood sample was collected from a transfusion patient with the Jk(a-b-) phenotype. Serotyping was performed using routine serological methods. The exons sequences and coding regions of the JK gene were amplified using polymerase chain reaction and directly sequenced. To perform a minigene splicing assay, the intronic mutation sequences were cloned into a pSPL3 splice reporting vector. The splicing reporter minigene assay was performed in HEK 293T cells...Results: The Jk(a-b-) phenotype of the blood sample was identified through serological testing. Sequencing results revealed that the sample had a novel homozygous splice-site mutation JK*02N (NM_015865.7: c.663+3A>C). Further analysis, including cDNA sequencing and minigene splicing assay, confirmed that the novel splice-site mutation resulted in exon skipping. Interestingly, different numbers of exons being skipped were obtained by the two methods...Conclusion: This study revealed a novel homozygous splicing-site mutation associated with the Jk(a-b-) phenotype in Chinese population. Our results emphasise the importance of the in vitro functional method minigene splicing assay, while also acknowledging its potential limitations when compared to cDNA sequencing.
