Identification of a novel Bx allele in a Chinese Han individual with B subgroup
- VernacularTitle:B亚型中Bx新等位基因的鉴定
- Author:
Yanlian LIANG
;
Qiong YU
;
Yuqing SU
;
Guoguang WU
- Publication Type:Journal Article
- Keywords:
B subgroup;
DNA sequencing;
RT-PCR;
Novel ABO allele;
Activity of glycosyltransferases
- From:
Chinese Journal of Blood Transfusion
1988;0(01):-
- CountryChina
- Language:Chinese
-
Abstract:
T missense mutation in exon 7. No novel point mutation at exons 6 and 7 of ABO gene was detected in the other four samples with B subgroup. Conclusion We define this allele as a novel B allele in Chinese Han individuals. The mutation of this novel allele in which the nucleotide changes from C to T at position 721 in exon 7, resulting in an amino acid change from Arg to Trp, results in the decrease of the enzyme activity. It indicates that the alteration of amino acid at position of 241 is critical to the activity of glycosyltransferases.
