Genetic analysis of a case with A subtype of the ABO blood type.
- Author:
Yanchun LIU
1
,
2
,
3
;
Yan CHEN
;
Ling MA
;
Lili SHI
;
Ling ZHENG
;
Jun SUN
Author Information
- Publication Type:Case Reports
- MeSH: ABO Blood-Group System; genetics; Adult; Base Sequence; Blood Grouping and Crossmatching; Exons; Female; Genotype; Humans; Male; Molecular Sequence Data; Mutation; N-Acetylgalactosaminyltransferases; genetics; metabolism
- From: Chinese Journal of Medical Genetics 2016;33(2):244-246
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the serological features and related blood group genes of a donor with A subtype of the ABO blood type.
METHODSThe ABO blood group of the sample was determined, in addition with the activity of blood group glycosyltransferase and blood group secretory substances. Sanger sequencing was adopted to analyze the genotype of the blood group.
RESULTSThe proband was identified as A subtype (non-secretory type), with no detectable activities of a 1, 3-N-acetylgalactosyltransferase. DNA sequencing has identified a number of mutations including nt.261del/G and 297A/A of exon 6, and nt.467C/T, 806T/C and 1009A/G of exon 7. Clone sequencing has confirmed that the nt.806T>C exists at one allele and was a novel mutation. The proband genotype was A205/Onew (806T>C). The nt.806T>C of the exon 7 was confirmed to be a novel mutation, which was given a GenBank accession number KP341759. Family study showed that the genotype of the proband's father was Onew (806T>C)/O02, and that of his mother was A101/A205. The novel mutation of the proband has derived from his father.
CONCLUSIONThe reduced A antigenicity of the sample was due to the A205 subtype allele and the presence of a novel O allele.
