{"title":"一名中国女性显著ABO基因缺失引起的弱b表型的鉴定。","authors":"Tian Gao, Feiyu Jiang, Shoufang Xu, Yingying Zhang, Weiwei Zheng, Xinhui Wang, Zhiwei Liu","doi":"10.1111/vox.70008","DOIUrl":null,"url":null,"abstract":"<p><strong>Background and objectives: </strong>The A<sub>weak</sub>B is a rare phenotype in the ABO blood group system. Here, we first report a novel ABO mutation discovered in a Chinese woman with an A<sub>weak</sub>B. Third-generation sequencing was employed to investigate the molecular mechanisms underlying A<sub>weak</sub>B. By correctly identifying the phenotype, it was useful for increasing the safety of blood transfusion.</p><p><strong>Materials and methods: </strong>ABO blood group was identified by the standard ABO serological test and polymerase chain reaction with sequence-specific primers (PCR-SSP). To analyse the ABO gene sequence, single-molecule real-time (SMRT) sequencing was performed to obtain full-length sequencing of the ABO gene.</p><p><strong>Results: </strong>The Chinese individual was serologically identified as A<sub>weak</sub>B subtype, and SMRT sequencing analysis revealed that there were large fragment deletion mutations in the promoter (c.1-1326_1-1321del, c.1-1010_1-975del, c.1-952_1-1del) and Exon 1 region (c.1_28del).</p><p><strong>Conclusion: </strong>We report for the first time that large fragment deletions represent a novel molecular basis for the A<sub>weak</sub>B. These deletions may potentially influence the expression of the A antigen.</p>","PeriodicalId":23631,"journal":{"name":"Vox Sanguinis","volume":" ","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Identification of an A<sub>weak</sub>B phenotype caused by significant ABO gene deletion in a Chinese woman.\",\"authors\":\"Tian Gao, Feiyu Jiang, Shoufang Xu, Yingying Zhang, Weiwei Zheng, Xinhui Wang, Zhiwei Liu\",\"doi\":\"10.1111/vox.70008\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background and objectives: </strong>The A<sub>weak</sub>B is a rare phenotype in the ABO blood group system. Here, we first report a novel ABO mutation discovered in a Chinese woman with an A<sub>weak</sub>B. Third-generation sequencing was employed to investigate the molecular mechanisms underlying A<sub>weak</sub>B. By correctly identifying the phenotype, it was useful for increasing the safety of blood transfusion.</p><p><strong>Materials and methods: </strong>ABO blood group was identified by the standard ABO serological test and polymerase chain reaction with sequence-specific primers (PCR-SSP). To analyse the ABO gene sequence, single-molecule real-time (SMRT) sequencing was performed to obtain full-length sequencing of the ABO gene.</p><p><strong>Results: </strong>The Chinese individual was serologically identified as A<sub>weak</sub>B subtype, and SMRT sequencing analysis revealed that there were large fragment deletion mutations in the promoter (c.1-1326_1-1321del, c.1-1010_1-975del, c.1-952_1-1del) and Exon 1 region (c.1_28del).</p><p><strong>Conclusion: </strong>We report for the first time that large fragment deletions represent a novel molecular basis for the A<sub>weak</sub>B. These deletions may potentially influence the expression of the A antigen.</p>\",\"PeriodicalId\":23631,\"journal\":{\"name\":\"Vox Sanguinis\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2025-03-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Vox Sanguinis\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/vox.70008\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Vox Sanguinis","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/vox.70008","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Identification of an AweakB phenotype caused by significant ABO gene deletion in a Chinese woman.
Background and objectives: The AweakB is a rare phenotype in the ABO blood group system. Here, we first report a novel ABO mutation discovered in a Chinese woman with an AweakB. Third-generation sequencing was employed to investigate the molecular mechanisms underlying AweakB. By correctly identifying the phenotype, it was useful for increasing the safety of blood transfusion.
Materials and methods: ABO blood group was identified by the standard ABO serological test and polymerase chain reaction with sequence-specific primers (PCR-SSP). To analyse the ABO gene sequence, single-molecule real-time (SMRT) sequencing was performed to obtain full-length sequencing of the ABO gene.
Results: The Chinese individual was serologically identified as AweakB subtype, and SMRT sequencing analysis revealed that there were large fragment deletion mutations in the promoter (c.1-1326_1-1321del, c.1-1010_1-975del, c.1-952_1-1del) and Exon 1 region (c.1_28del).
Conclusion: We report for the first time that large fragment deletions represent a novel molecular basis for the AweakB. These deletions may potentially influence the expression of the A antigen.
期刊介绍：
Vox Sanguinis reports on important, novel developments in transfusion medicine. Original papers, reviews and international fora are published on all aspects of blood transfusion and tissue transplantation, comprising five main sections:
1) Transfusion - Transmitted Disease and its Prevention:
Identification and epidemiology of infectious agents transmissible by blood;
Bacterial contamination of blood components;
Donor recruitment and selection methods;
Pathogen inactivation.
2) Blood Component Collection and Production:
Blood collection methods and devices (including apheresis);
Plasma fractionation techniques and plasma derivatives;
Preparation of labile blood components;
Inventory management;
Hematopoietic progenitor cell collection and storage;
Collection and storage of tissues;
Quality management and good manufacturing practice;
Automation and information technology.
3) Transfusion Medicine and New Therapies:
Transfusion thresholds and audits;
Haemovigilance;
Clinical trials regarding appropriate haemotherapy;
Non-infectious adverse affects of transfusion;
Therapeutic apheresis;
Support of transplant patients;
Gene therapy and immunotherapy.
4) Immunohaematology and Immunogenetics:
Autoimmunity in haematology;
Alloimmunity of blood;
Pre-transfusion testing;
Immunodiagnostics;
Immunobiology;
Complement in immunohaematology;
Blood typing reagents;
Genetic markers of blood cells and serum proteins: polymorphisms and function;
Genetic markers and disease;
Parentage testing and forensic immunohaematology.
5) Cellular Therapy:
Cell-based therapies;
Stem cell sources;
Stem cell processing and storage;
Stem cell products;
Stem cell plasticity;
Regenerative medicine with cells;
Cellular immunotherapy;
Molecular therapy;
Gene therapy.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
