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- Title
Functional characterisation of a complex mutation in the α(1,4)galactosyltransferase gene in Taiwanese individuals with p phenotype.
- Authors
Wang, Y.-C.; Chang, C.-F.; Lin, H.-C.; Lin, K.-S.; Lin, K.-T.; Hung, C.-M.; Lin, T.-M.
- Abstract
Individuals with p phenotype lack P1, P and P antigens on red blood cells, presumably as a result of deficiency in the enzyme α(1,4)galactosyltransferase ( A4GALT). The aim of this study was to explore the molecular background of a Taiwanese family with p phenotype. Blood samples from two p siblings and seven family members were investigated. The coding region of the A4GALT gene was analysed by polymerase chain reaction and direct sequencing. The wild- and mutant-complementary DNAs (cDNAs) of A4GALT were cloned into an expression vector and transfected to Chinese hamster ovary (CHO) cells. P expression on the transfected cells was analysed by flow cytometry and the activities of A4GALT were measured by high-performance liquid chromatography. The two individuals with p phenotype were homozygous for the complex mutation, which was caused by a combined deletion and insertion between nt 418 and 428. No expression of P and no enzyme activity were observed in cells transfected with the mutant construct. The first case of p phenotype in Taiwan was caused by a non-functional allele resulting from a homozygous complex mutation of A4GALT gene.
- Subjects
TAIWAN; GENETIC mutation; GALACTOSYLTRANSFERASES; PHENOTYPES; HUMAN genetics; TAIWANESE people; GENE frequency
- Publication
Transfusion Medicine, 2011, Vol 21, Issue 2, p84
- ISSN
0958-7578
- Publication type
Article
- DOI
10.1111/j.1365-3148.2010.01055.x