Molecularmechanism of Bel subtype caused by mutation p.R168W of glycosyltransferase B
10.13303/j.cjbt.issn.1004-549x.2017.07.008
- VernacularTitle:B糖基转移酶p.R168W突变导致Bel亚型的分子机制研究
- Author:
Songsong GONG
;
Wei ZOU
;
Fang LI
;
Yuqin WANG
;
Hang LEI
;
Xuefeng WANG
;
Xiaohong CAI
- Keywords:
ABO blood type;
Bel03 subgroup;
gene mutation;
3D molecular modeling
- From:
Chinese Journal of Blood Transfusion
2017;30(7):679-681
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the molecular mechanism of Bel subtype caused by mutation p.R168W of glycosyltransferase B.Methods Serological test,SSP-PCR and direct sequence the Exon6 and Exon 7 of the ABO gene.Construct a 3D molecular model and predict the structural impact of GTB protein mutations.Results A antigen or B antigen can't be detected on the surface of the propositus' RBC,and only anti-A antibodies were detected in her serum.But serological test indicated her daughter's blood type was a normal B type.SSP-PCR test indicated propositus' ABO gene type is O1 B.By gene sequencing the Exon 6 and Exon 7 of the ABO gene,a ABO Bel allel(c.502C＞T,p.R168W)was discoverd in both the propositus and her daughter.Through the propositus' daughter coexisted Bel gene with normal B gene,her blood type was a normal B type.Conclusions ABO gene c.502C＞T mutations cause Bel phenotypes in patients by reducing the stability of GTB.
