This work was partially supported by Grants NSC 101-2311-B-014-MY3 and NSC 102-2321-B-002-057 from the National Science Council and Grant NTU-CESRP-103R76264A from the National Taiwan University, Taiwan.
A systematic study of single-nucleotide polymorphisms in the A4GALT gene suggests a molecular genetic basis for the P1/P2 blood groups
Version of Record online: 20 JUL 2014
© 2014 AABB
Volume 54, Issue 12, pages 3222–3231, December 2014
How to Cite
Lai, Y.-J., Wu, W.-Y., Yang, C.-M., Yang, L.-R., Chu, C.-C., Chan, Y.-S., Lin, M. and Yu, L.-C. (2014), A systematic study of single-nucleotide polymorphisms in the A4GALT gene suggests a molecular genetic basis for the P1/P2 blood groups. Transfusion, 54: 3222–3231. doi: 10.1111/trf.12771
- Issue online: 11 DEC 2014
- Version of Record online: 20 JUL 2014
- Manuscript Accepted: 20 MAY 2014
- Manuscript Revised: 14 MAY 2014
- Manuscript Received: 25 FEB 2014
- National Science Council. Grant Numbers: NSC 101-2311-B-014-MY3, NSC 102-2321-B-002-057
- National Taiwan University, Taiwan. Grant Number: NTU-CESRP-103R76264A
Appendix S1. Supplemental method.
Fig. S1. Structures and biosynthetic pathways of the blood group P1, Pk, and related antigens. The carbohydrate chains bearing the antigenic determinants of these blood groups are linked to ceramide (Cer) on the cell membrane. The blood group P1 and Pk antigens, synthesized through distinct biosynthetic routes, are both determined by the enzymatic activity of the α4GalT encoded from the A4GALT gene. The Pk antigen is the precursor for the globoside series of antigens, including the blood group antigens P, Forssman, LKE (also called stage-specific embryonic antigen-4 [SSEA-4]), and NOR. The NOR antigens, NOR1 and NOR2, are determined by the A4GALT gene with a C631G missense mutation, which encodes an α4GalT with altered acceptor specificity; these comprise the third antigen, after the P1 and Pk antigens, in the P1PK blood group system.
Table S1. PCR primers for the SNP analysis
Table S2. Nucleotide genotypes of the 416 different SNP sites in the A4GALT gene of four P1 and four P2 Taiwanese*
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