[1]洪 毅.ABO*BEL.11 等位基因突变致红细胞B 抗原弱表达的家系血型血清学及分子机制研究[J].现代检验医学杂志,2023,38(01):161-164.[doi:10.3969/j.issn.1671-7414.2023.01.030]
　HONG Yi.Serology and Molecular Mechanism of Family Blood Group with Weak Expression of Erythrocyte B Antigen Caused by ABO*BEL.11[J].Journal of Modern Laboratory Medicine,2023,38(01):161-164.[doi:10.3969/j.issn.1671-7414.2023.01.030]
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ABO*BEL.11 等位基因突变致红细胞B 抗原弱表达的家系血型血清学及分子机制研究()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第38卷
期数:
2023年01期
页码:
161-164
栏目:
论著
出版日期:
2023-01-15

文章信息/Info

Title:
Serology and Molecular Mechanism of Family Blood Group with Weak Expression of Erythrocyte B Antigen Caused by ABO*BEL.11
文章编号:
1671-7414（2023）01-161-04
作者:
洪 毅
（西安高新医院输血科，西安 710075）
Author(s):
HONG Yi
（Department of Blood Transfusion, Xi’an High-Tech Hospital, Xi’an 710075，China）
关键词:
ABO 血型; 表型; 等位基因; 家系调查
分类号:
R457.1；Q786
DOI:
10.3969/j.issn.1671-7414.2023.01.030
文献标志码:
A
摘要:
目的 探讨由ABO*BEL.11 等位基因导致的ABO 正反定型不符样本及家系的血清学和分子生物学特性，研究其遗传方式。方法 常规血型血清学方法和吸收放散试验鉴定样本的ABO 血型表型；PCR 方法扩增ABO 基因7 个外显子及其侧翼内含子，对扩增产物进行直接测序和克隆测序分析，并对先证者的亲属进行家系调查。结果 先证者血型血清学结果为B弱；测序显示：存在ABO*B.01/O.01.01 杂合且伴c.586C/T 突变；克隆测序：c.261delG，297A>G，c.526C>G，c.586T>C，c.657C>T，c.703G>A，c.796C>A，c.803G>C 和c.930G>A 共9 个突变，基因型结果为ABO*BEL.11/O.01.01。家系调查显示先证者父亲、母亲、妻子和女儿血型血清学结果分别为B 型、O 型、A 型及B 弱，其中先证者父亲及女儿的ABO 基因存在ABO*BEL.11 等位基因。结论 ABO*B.01 等位基因上c.586T>C 的突变产生ABO*BEL.11 等位基因，从而导致红细胞上B 抗原的弱表达，且能够稳定遗传突变。
Abstract:
Objective To investigate the serological and molecular biological characteristics of ABO positive and negative stereotypes and lineages caused by ABO*BEL.11 alleles, and study their genetic patterns. Methods The ABO blood group phenotype of the samples was identified by conventional blood group serology and absorption-elution test, The seven exons and their flanking introns of the ABO gene were amplified by PCR, and the amplified products were analyzed by direct sequencing and cloning sequencing. A pedigree investigation was carried out on the relatives of the proband. Results The blood group serology of the proband was Bweak. Sequencing showed that there was: ABO*B.01/O.01.01 heterozygosity with c.586C/T.Clone sequencing were c.261delG, c.297A>G, c.526C>G, c.586T>C, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A, a total of 9 mutations, and the genotype result was ABO*BEL.11/O.01.01. The pedigree investigation showed that the blood group serological results of the proband’s father, mother, wife and daughter were B, O, A and B weak, and the ABO*BEL.11 allele existed in the ABO gene of the proband’s father and daughter. Conclusion The mutation of c.586T>C on the ABO*B.01 could generate the ABO*BEL.11, resulting in weak expression of B antigen on erythrocytes. It can stabilize genetic mutation.

参考文献/References:

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备注/Memo

备注/Memo:
作者简介：洪毅（1975-）男，本科，副主任检验师，研究方向：输血管理、输血检验，E-mail:1967113703@qq.com。
更新日期/Last Update: 2023-01-15