一例cisAB血型的鉴定及家系分析

doi:10.3969/j.issn.1671-2587.2020.05.025

临床输血与检验 ›› 2020, Vol. 22 ›› Issue (5): 545-548.DOI: 10.3969/j.issn.1671-2587.2020.05.025

一例cisAB血型的鉴定及家系分析

罗随莉, 杨小勇, 周君, 刘亚军

712046 陕西省咸阳市中心血站检验科

收稿日期:2019-04-10 出版日期:2020-10-20 发布日期:2020-10-16
通讯作者: 刘亚军,女,副主任检验师,主要从事血液安全及临床输血管理工作,（E-mail）1195931973@qq.com。
作者简介:罗随莉（1982-）,女,陕西咸阳人,主管技师,本科,主要从事临床疑难输血工作,（Tel）13572788160（E-mail）504355488@qq.com。

Identification and Pedigree Analysis of A Case of cisAB Blood Group

LUO Sui-li, YANG Xiao-yong, ZHOU Jun, et al

Laboratory Department of Xianyang Central Blood Station, Xianyang 712046

Received:2019-04-10 Online:2020-10-20 Published:2020-10-16

摘要/Abstract

摘要： 目的对一例血清学检测疑为cisAB型的样本进行基因分型和家系调查,以发现ABO亚型的分子基础及遗传规律。方法采用血型血清学方法对所有标本进行ABO血型鉴定,采用聚合酶链式反应（PCR）扩增ABO基因第6和7外显子并对扩增产物进行测序分析。结果该样本的基因型为ABO*cisAB.01/O.01.02,该家系调查中发现其它4位成员的血清学结果正反定型结果不符,但血型学特征各有差异;测序结果发现均携带有ABO*cisAB.01基因。结论 ABO*cisAB.01基因能导致A/B抗原的弱表达,并能稳定遗传。血型血清学正反定型不符的标本,可采用分子生物学方法进行检测,辅助鉴定ABO血型。

关键词: cisAB血型, ABO*cisAB.01等位基因, 家系分析

Abstract: Objective To find out the molecular basis and genetic rule of ABO subtypeby genotyping and pedigree analysis of a sample suspected to be cisAB by serological examination. Methods ABO blood group was identified by blood group serology in all samples. Exons 6 and 7 of ABO gene were amplified by polymerase chain reaction (PCR) and sequenced. Results The results showed that thegenotype of the sample was ABO*cisAB.01/O.01.02. In the family investigation, it was found thatserological results of the other fourmembers were found to be inconsistent with positive and negative reactions, but the blood type characteristics were different. The sequencing results showed that all of them carried the ABO*cisAB.01 gene. Conclusion ABO* cisAB.01 gene can lead to weak expression of A/B antigen and stable inheritance. ABO blood groups can be identified by molecular biological methods in the detection of serological specimens with different positive and negative blood types. The samples with incompatible serological typing can be detected by molecular biology method to assist in the identification of ABO blood group.

Key words: cisAB blood group, ABO*cisAB.01, allele Pedigree analysis

中图分类号:

R446.6

罗随莉, 杨小勇, 周君, 刘亚军. 一例cisAB血型的鉴定及家系分析[J]. 临床输血与检验, 2020, 22(5): 545-548.

LUO Sui-li, YANG Xiao-yong, ZHOU Jun, et al. Identification and Pedigree Analysis of A Case of cisAB Blood Group[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2020, 22(5): 545-548.

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一例cisAB血型的鉴定及家系分析

Identification and Pedigree Analysis of A Case of cisAB Blood Group

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