Study on a 905A to G mutation of α 1,3 galactosyltransferase gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 82-84, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-254503
ABSTRACT
<p><b>OBJECTIVE</b>To study the effect of 905A to G mutation of α -1,3 galactosyltransferase of ABO gene on B antigen expression.</p><p><b>METHODS</b>Three samples were diagnosed as B subgroup by serological test. Genotyping and sequencing were performed with polymerase chain reaction-sequence specific primer (PCR-SSP), direct sequencing and gene dones of exons 6 and 7 of the ABO locus.</p><p><b>RESULTS</b>The sequence of B allele has differed from that of regular B101 allele with a 905A to G missense mutation in exon 7, which resulted in an amino acid substitution (D302G) in all of the three B subgroup samples.</p><p><b>CONCLUSION</b>905A to G mutation can reduce the expression of B antigen.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
ABO Blood-Group System
/
Molecular Sequence Data
/
Base Sequence
/
Amino Acid Substitution
/
Mutation, Missense
/
Alleles
/
Galactosyltransferases
/
Genetics
/
Genotype
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2014
Type:
Article
Similar
MEDLINE
...
LILACS
LIS