Two cases of ABO blood group gene damage caused by disease with a family survey
10.3760/cma.j.cn114452-20240220-00086
- VernacularTitle:疾病致ABO血型基因受损2例及家系调查
- Author:
Li′na WU
1
;
Ying ZHAO
1
;
Lei MA
1
;
Shuangyu LI
1
;
Shiping AN
1
;
Jinghui CHONG
1
;
Xian HUANG
1
;
Yang YANG
1
;
Jinhui XIE
1
Author Information
1. 天津市血液中心，天津 300110
- Publication Type:Journal Article
- Keywords:
ABO blood-group system;
Loss of heterozygosity;
Gene sequencing
- From:
Chinese Journal of Laboratory Medicine
2024;47(12):1477-1480
- CountryChina
- Language:Chinese
-
Abstract:
Proband 1, female, 51 years old, with no history of blood transfusion and history of pregnancy, was in acute phase of chronic myelogenous leukemia; Proband 2, male, 53 years old, with no history of blood transfusion, was a patient with liver cancer. Probands 1 and 2 showed mixed appearance with forward typing in routine ABO blood group identification, and the hospital sent samples to our blood center for further identification. The experiment found that proband 1' s forward type was A with mixed appearance, while its reverse type was A, and proband 2' s foward type was B with mixed appearance, while its reverse type was B. Two probands were tested with short tandem repeat (STR) to exclude the mixed appearance image caused by chimera. ABO blood group identification was performed on Proband 1's parents. Subsequently, exon 1-7 of ABO gene was sequenced in two probands, and the results showed that probands 1 and 2 were O01/O01, which was inconsistent with the serological results. Primers were designed for ABO blood group gene A102 specific site 467 and B101 specific site 526, and the A102 and B101 alleles damaged by diseases were detected in proband 1 and proband 2. It is speculated that the reason for the inconsistency between ABO blood group serology and gene sequencing results may be the loss of heterozygosity (LOH) of ABO blood group genes caused by diseases.
