Kidd血型抗原弱表达三代基因测序(TGS)与血清学结果对照分析  

Comparative Analysis of Third-generation Gene Sequencing(TGS)and Serological Findings for Weakly Expressed Kidd Blood Group Antigen LI

作　　者：李菲[1] 古丽米热·买买提吐尔干 孔朝明 邱进 王儒彬 赵铁锁[4] 陈伟[1] LI Fei;GULIMIRE Maimaitituergan;KONG Zhaoming;QIU Jin;WANG Rubin;ZHAO Tiesuo;CHEN Wei(Department of Blood Transfusion,People's Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830001;Department of Blood Transfusion,Kizilsu Kirgiz Autonomous Prefecture People's Hospital,Kizilsu Kirgiz Autonomous Prefecture,Xinjiang 845350;Department of Blood Transfusion,Karamay Central Hospital,Karamay,Xinjiang 834000;Department of Immunology,School of Basic Medical Sciences,Xinxiang Medical University,Xinxiang,Henan 453000)

机构地区：[1]新疆维吾尔自治区人民医院输血科,新疆乌鲁木齐830001 [2]新疆克孜勒苏柯尔克孜自治州人民医院输血科,新疆克孜勒苏柯尔克孜自治州845350 [3]克拉玛依市中心医院输血科,新疆克拉玛依834000 [4]新乡医学院基础医学院免疫学系,河南新乡453000

出　　处：《临床输血与检验》2025年第2期179-185,共7页Journal of Clinical Transfusion and Laboratory Medicine

基　　金：新疆维吾尔自治区自然科学基金项目(No.2022D01C637)资助。

摘　　要：目的探讨三代基因测序技术(TGS)在Kidd血型抗原弱表达样本中检测的临床意义。方法收集新疆维吾尔自治区人民医院就诊患者样本并收集患者信息,应用血清学方法检测Jka、Jkb抗原,对结果弱表达样本9例进行Kidd血型基因全长单分子实时测序技术(第三代高通量测序)获得其基因多态性并统计分析。结果获得此次检测Kidd血型基因主要突变位点:c.588A>G、c.838G>A、c.130G>A;此外还发现5例样本带有新的基因突变类型,其中2例为纯合子,3例为杂合子,新的突变基因型为:c.499A>G、c.588A>G、c.838G>A,主要见于Jk(b+)表型,等位基因名称为JK*02.NEW,9例样本中有7例基因检测结果与血清学结果不同,且均带有ISBT记录或未记录的基因突变位点,同时汇总并分析了突变基因位点特异性及其对应氨基酸改变情况。结论本研究探索了新疆人群红细胞血型Kidd基因的突变、剪切、折叠以及氨基酸序列,为进一步了解本地区血型特异性奠定基础,为今后构建三维蛋白模型提供了依据。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.

关 键 词：KIDD血型 抗原 基因 氨基酸 

分 类 号：R446[医药卫生—诊断学]