A single base insertion of the 4-α-galactosyltransferase gene led to the deficiency of Gb3 biosynthesis

Publications

Share / Export Citation / Email / Print / Text size:

Immunohematology

American National Red Cross

Subject: Medical Laboratory Technology

GET ALERTS SUBSCRIBE

ISSN: 0894-203X
eISSN: 1930-3955

DESCRIPTION

3
Reader(s)
5
Visit(s)
0
Comment(s)
0
Share(s)

SEARCH WITHIN CONTENT

FIND ARTICLE

Volume / Issue / page

Archive
Volume 37 (2021)
Volume 36 (2020)
Volume 35 (2019)
Volume 34 (2018)
Volume 33 (2017)
Volume 32 (2016)
Volume 31 (2015)
Volume 30 (2014)
Volume 29 (2013)
Volume 28 (2012)
Volume 27 (2011)
Volume 26 (2010)
Volume 25 (2009)
Volume 24 (2008)
Volume 23 (2007)
Volume 22 (2006)
Volume 21 (2005)
Volume 20 (2004)
Volume 19 (2003)
Volume 18 (2002)
Volume 17 (2001)
Volume 16 (2000)
Volume 15 (1999)
Volume 14 (1998)
Volume 13 (1997)
Volume 12 (1996)
Volume 11 (1995)
Volume 10 (1994)
Volume 9 (1993)
Volume 8 (1992)
Volume 7 (1991)
Volume 6 (1990)
Volume 5 (1989)
Volume 4 (1988)
Volume 3 (1987)
Related articles

VOLUME 22 , ISSUE 1 (March 2006) > List of articles

A single base insertion of the 4-α-galactosyltransferase gene led to the deficiency of Gb3 biosynthesis

Mitsunobu Tanaka / Naoko Yamashita / Junko Takahashi / Fumiya Hirayama / Yoshihiko Tani / Hirotoshi Shibata

Keywords : P blood group system, p phenotype, α 1, 4-galactosyltransferase

Citation Information : Immunohematology. Volume 22, Issue 1, Pages 23-29, DOI: https://doi.org/10.21307/immunohematology-2019-342

License : (Transfer of Copyright)

Published Online: 01-April-2020

ARTICLE

ABSTRACT

cDNAs for α 1,4 galactosyltransferase (A4GALT) have been isolated. To explore the molecular basis of the p phenotype in Japanese donors, we analyzed the A4GALT gene sequences of normal and p phenotype samples. The coding region in the A4GALT gene for DNA sequencing was amplified by PCR amplification. A4GALT expression vectors for individual mutants were constructed by PCR amplification of the coding region using primers and subsequent subcloning into an expression vector. The expression of Gb3/CD77 antigen on the cell surface was evaluated by flow cytometry and by immunochemical techniques. All individuals with the p phenotype were found to have a single base insertion (A4GALT/insC) at the same nucleotide position. Neither the transfectant cells with a mutant gene (A4GALT/insC) of donor origin or those with a synthesized mutant gene (A4GALT/insC-Mu) expressed Gb3 antigen indicating that the presence of A4GALT/insC diminished the A4GALT enzyme activity. In addition, an allele-specific PCR (ASP) system was developed in which donors of the p phenotype with A4GALT/insC can be unambiguously discriminated from normal donors. Based on the finding that a single base insertion (A4GALT/insC) diminishes A4GALT activity,an ASP assay was developed to detect individuals with this particular p phenotype.

You don't have 'Full Text' access of this article.

Purchase Article Subscribe Journal Share