A novel ABO allele with a 21-bp duplication identified in two unrelated European individuals with weak A expression

Jakobsen Marianne A.; Hult Annika K.; Hellberg Asa; Crottet Sofia Lejon; Sprogoe Ulrik; Olsson Martin L.

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A novel ABO allele with a 21-bp duplication identified in two unrelated European individuals with weak A expression

机译：一种新的ABO等位基因，在两个不相关的欧洲个人中发现了21-BP重复，具有弱表达

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摘要

Objectives To carry out genetic and serological analyses of a Swiss blood donor and a Danish patient carrying an aberrant ABO phenotype with weak A expression.

机译：目的对一名瑞士献血者和一名携带ABO表型异常、a表达弱的丹麦患者进行遗传学和血清学分析。

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来源
《Transfusion medicine》 |2020年第6期|共5页
作者
Jakobsen Marianne A.; Hult Annika K.; Hellberg Asa; Crottet Sofia Lejon; Sprogoe Ulrik; Olsson Martin L.;
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作者单位

Odense Univ Hosp Dept Clin Immunol JB Winslows Vej 4 DK-5000 Odense Denmark;

Off Med Serv Clin Immunol &

Transfus Med Lund Sweden;

Off Med Serv Clin Immunol &

Transfus Med Lund Sweden;

Swiss Natl Immunohematol Reference Lab Bei Interr Bern Switzerland;

Odense Univ Hosp Dept Clin Immunol JB Winslows Vej 4 DK-5000 Odense Denmark;

Off Med Serv Clin Immunol &

Transfus Med Lund Sweden;

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原文格式 PDF
正文语种 eng
中图分类治疗学;
关键词
ABO; weak A allele; blood group variant;

机译：abo;弱等位基因;血液组变种;

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专利

1. A Computational Workflow to Identify Allele-specific Expression and Epigenetic Modification in Maize [J] . Xiaoxing Wei, Xiangfeng Wang 基因组蛋白质组与生物信息学报（英文版） . 2013,第004期
2. A novel variant B B allele at the ABO ABO gene locus characterized by a duplication‐based insertion of 27 nucleotides identified in an Iraqi male with a weak B subgroup phenotype [J] . Matzhold Eva Maria, Drexler Camilla, Staudacher Erika, Transfusion: The Journal of the American Association of Blood Banks . 2018,第5期

机译：ABO ABO基因座的新型变体B等位基因，其特征在于伊拉克雄性中鉴定的27个核苷酸的复制基因插入，具有弱B亚组表型
3. A novel variant B B allele at the ABO ABO gene locus characterized by a duplication‐based insertion of 27 nucleotides identified in an Iraqi male with a weak B subgroup phenotype [J] . Matzhold Eva Maria, Drexler Camilla, Staudacher Erika, Transfusion: The Journal of the American Association of Blood Banks . 2018,第5期

机译：ABO ABO基因座的新型变体B等位基因，其特征在于伊拉克雄性中鉴定的27个核苷酸的复制基因插入，具有弱B亚组表型
4. Alleles responsible for ABO phenotype-genotype discrepancy and alleles in individuals with a weak expression of A or B antigens. [J] . Mizuno N, Ohmori T, Sekiguchi K, Journal of forensic sciences. . 2004,第1期

机译：导致ABO表型-基因型差异的等位基因和A或B抗原表达较弱的个体中的等位基因。
5. THE CLINICAL SIGNIFICANCE OF MATCHING FOR ALLELES AT THE LOW EXPRESSION HLA LOCI DP, DQ AND DRB3/4/5 IN UNRELATED HEMATOPOIETIC STEM CELL TRANSPLANTATION [C] . Marcelo Fernandez-Vina, John Klein, Michael D Haagenson, Clinical Histocompatibility Workshop. . 2009

机译：在不相关造血干细胞移植中匹配低表达HLA LOCI DP，DQ和DRB3 / 5的等位基因的临床意义
6. Secular Change in Nonmetric Trait Expression in European American Individuals [D] . Kilroy, Grace S. 2019

机译：欧洲人个人在非金属特征表达中的世俗变化
7. Molecular genetic analysis of weak ABO subgroups in the Chinese population reveals ten novel ABO subgroup alleles [O] . Haobo Huang, Sha Jin, Xi Liu, 2019

机译：中国人群中弱ABO亚群的分子遗传分析揭示了十个新的ABO亚群等位基因
8. ABO exon and intron analysis in individuals with the A_weakB phenotype reveals a novel O^1v-A²hybrid allele that causes four missense mutations in the A transferase [O] . Chester M Alan, Rodrigues Maria J, Hellberg Åsa, 2003

机译：具有a _{弱 B表型的个体中的外显子和内含子分析揭示了新的 O ^{1 v - a ^{2 杂合等位基因导致a转移酶中有4个错义突变}}}
9. Genomic Characterization of KIR2DL4 in Families and Unrelated Individuals Reveals Extensive Diversity in Exon and Intron Sequences Including a Common Frameshift Variation Occurring in Several Alleles [R] . Gedil, M. A. , Steiner, N. K. , Hurley, C. K. 2005

机译：KIR2DL4在家族和无关个体中的基因组表征揭示外显子和内含子序列的广泛多样性，包括在几个等位基因中发生的共同移码变异

A novel ABO allele with a 21-bp duplication identified in two unrelated European individuals with weak A expression

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