%0 Case Reports
%T [Study of 467C>T and 745C>T variants of alpha-1, 3-N-acetylgalactoseaminotransferase gene].
%A Zhang X
%A Li J
%J Zhonghua Yi Xue Yi Chuan Xue Za Zhi
%V 34
%N 4
%D Aug 2017 10
%M 28777868
暂无%R 10.3760/cma.j.issn.1003-9406.2017.04.029
%X <B>OBJECTIVE: </B>To explore the effect of alpha-1,3-N-acetylgalactosaminyltransferase gene variants on A antigen expression in a family where a member was suspected for a rare A3 subtype of the ABO variant.<BR><B>METHODS: </B>Serological assay was carried out to determine the ABO blood group of the proband and his family members. To determine the haploid of the alpha-1,3-N-acetylgalactosaminyltransferase gene of the proband, DNA was extracted and genotyped with sequence-specific primer PCR (PCR-SSP) followed by direct sequencing and cloning of exons 6 and 7 of the ABO locus.<BR><B>RESULTS: </B>Weak A antigen was detected on red blood cells of the proband, while anti-A and anti-B antibodies were detected in his serum. DNA sequencing showed a 261delG mutation in exon 6, and two heterozygote mutations (467C>T and 745C>T) in exon 7 of the alpha-1,3-N-acetylgalactosaminyltransferase gene. Haplotype analysis has identified two alleles A307 and O01. Compared with the A101 allele, the A307 allele has harbored two nucleotides changes (467C>T and 745C>T), which resulted in substitution of two amino acids (P156L and R249W).<BR><B>CONCLUSIONS: </B>The 467C>T and 745C>T mutations of the alpha-1,3-N-acetylgalactosaminyltransferase gene can result in an A307 phenotype with reduced expression of A antigen.