[1]耿欣冉,田 军,高占喜,等.2例ABO变异型Bw27亚型鉴定及基因测序与GTB空间结构分析研究[J].现代检验医学杂志,2026,41(01):128-131.[doi:10.3969/j.issn.1671-7414.2026.01.024]
　GENG Xinran,TIAN Jun,GAO Zhanxi,et al.Identification, Gene Sequencing and GTB Spatial Structure Analysis of 2 Cases of ABO Variant Bw27 Subtype[J].Journal of Modern Laboratory Medicine,2026,41(01):128-131.[doi:10.3969/j.issn.1671-7414.2026.01.024]
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2例ABO变异型Bw27亚型鉴定及基因测序与GTB空间结构分析研究()

《现代检验医学杂志》[ISSN:/CN:]

卷:
第41卷
期数:
2026年01期
页码:
128-131
栏目:
论著
出版日期:
2026-01-15

文章信息/Info

Title:
Identification, Gene Sequencing and GTB Spatial Structure Analysis of 2 Cases of ABO Variant Bw27 Subtype
文章编号:
1671-7414（2026）01-128-04
作者:
耿欣冉1，田 军2，高占喜3，苏佳怡2，阎培培2，郑娟娟2
1.德州市妇幼保健院检验科，山东德州 253011;2.山东大学齐鲁医院德州医院输血科，山东德州 253000;3.德州市中心血站血型参比实验室，山东德州 253055
Author(s):
GENG Xinran1，TIAN Jun2，GAO Zhanxi3，SU Jiayi2，YAN Peipei2，ZHENG Juanjuan2
1.Department of Clinical Laboratory, Maternity & Child Care Center of Dezhou, Shandong Dezhou 253011, China;2.Department of Blood Transfusion, Qilu Hospital of Shandong University Dezhou Hospital, Shandong Dezhou 253000, China;3.Blood Group Reference Laboratory, Dezhou Blood Center, Shandong Dezhou 253055, China
关键词:
ABO血型; Bw27亚型; 基因测序; 分子模型
分类号:
R457.11；Q786
DOI:
10.3969/j.issn.1671-7414.2026.01.024
文献标志码:
A
摘要:
目的2例ABO变异型Bw27亚型的鉴定及相关分子机制研究。方法通过血型血清学方法分析2例Bw亚型；对其ABO基因第1~7外显子进行基因测序，利用DynaMut在线分析野生型和突变型B糖基转移酶（GTB）的3D分子模型，预测突变对酶稳定性的变化；使用PyMOL软件进行可视化。结果2例标本ABO血型鉴定符合Bw亚型，基因型分别为Bw27/O.02，Bw27/O.01，测序发现均存在c.905A>G杂合变异，导致多肽链Asp302Gly替换；通过对GTB空间结构分析，认为D302G置换影响了第302位氨基酸与Ser-304，His-305的分子间作用力。结论鉴定2例Bw27亚型，其D302G的置换影响了蛋白稳定性，导致酶活性异常，从而引起血清学上B抗原表达减弱。
Abstract:
Objective To identify and investigate the molecular mechanism of 2 cases of ABO Variant Bw27 subtype. Methods Two cases of Bw subtype were analyzed by blood group serological methods. Exons 1 to 7 of the ABO gene were sequenced, and 3D molecular models of wild type and mutant B glycosyltransferase (GTB) were analyzed online by DynaMut to predict the changes of enzyme stability. Visualization using PyMOL software. Results ABO blood group identification of the 2 samples matched Bw subtype, and the genotypes were Bw27/O.02 and Bw27/O.01, respectively. The gene sequencing showed that there was a heterozygous mutation c.905A>G, which led to the substitution of polypeptide chain Asp302Gly. By analyzing the spatial structure of GTB, it was concluded that D302G displacement affected the intermolecular force between the 302nd amino acid with Ser-304 and His-305. Conclusions Two cases of Bw27 subtype are identified, and the substitution of D302G affects protein stability, resulting in abnormal enzyme activity and weakened B antigen expression in serology.

参考文献/References:

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备注/Memo

备注/Memo:
作者简介：耿欣冉（1990-），女，主管技师，硕士研究生，研究方向：临床输血与分子生物学，E-mail：977530856@qq.com。
通讯作者：郑娟娟（1991-），女，主管技师，硕士研究生，研究方向：临床输血与分子生物学，E-mail：dzzhengjuanjuan@163.com。
更新日期/Last Update: 2026-01-15