Identification and pedigree analysis of ABO subgroup B303.
- Author:
Fawen CHEN
1
;
Haihua XIE
;
Xiaojun YANG
;
Jiafeng SUN
;
Lihong LIN
;
Pengwei CAI
Author Information
- Publication Type:Journal Article
- From: Chinese Journal of Medical Genetics 2018;35(3):440-442
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the molecular mechanism of a case of ABO discrepancies based on the results of blood group serology.
METHODSFive cases of the two-generation pedigrees were analyzed. ABO genotypes were determined using serological tests. DNA sequence analysis was performed on exon 6, exon 7 and intron 3 of the 5 cases to confirm the genotypes of a proband with B subgroup and 4 family members.
RESULTSThere were 3 cases of subgroup AB3 and 1 case of subgroup B3 among the 5 family members. The genotypes were identified as A102/B303 and O02/B303, respectively. B303 differed from B101 by intron 3 point mutation (intron3 + 5G>A).
CONCLUSIONThe point mutation of intron 3 (intron 3+5G>A) is specific in B303.
