Molecular genetic analysis of a family trio with weak B phenotype.
10.3760/cma.j.issn.1003-9406.2018.06.030
- VernacularTitle:一个B抗原减弱表型核心家系的分子遗传学分析
- Author:
Junhua HU
1
;
Zhiyang NIE
;
Jiwu GONG
Author Information
1. Department of Blood Transfusion, Beijing Hospital, National Center of Gerontology, Beijing 100730, China. xkgjw1@139.com.
- Publication Type:Journal Article
- MeSH:
ABO Blood-Group System;
genetics;
Alleles;
Base Sequence;
Exons;
Female;
Genotype;
Humans;
Male;
Mutation, Missense;
Phenotype;
Sequence Analysis, DNA
- From:
Chinese Journal of Medical Genetics
2018;35(6):897-900
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore serological and molecular characteristics of a family trio with weak B phenotype.
METHODS:ABO blood type of the family was determined with a serological method. Genotypes of the ABO gene were determined with PCR-sequence specific primer (PCR-SSP). Sequences of exons 6 and 7 of the ABO gene were analyzed by PCR sequence-based testing.
RESULTS:Serologically, the proband and her father were determined as B subtype (Bw), while her mother was of O group. The genotypes of the proband and her father were Bw12/O, while her mother was O01/O01. Sequencing of exons 6 and 7 of the ABO gene confirmed that the proband and her father were Bw12/O01. Compared with B101/O01, the Bw12 subtype carried a missense mutation (278C>T) in exon 6 of the ABO gene.
CONCLUSION:The 278C>T mutation probably underlies the Bw phenotype and can be transmitted stably.
