Chen S

Identification of a novel B allele with missense mutation (c.98G > C) in the ABO gene

A BO is considered one of the most clinically relevant blood group systems in both transfusion and transplantation medicine. Since the discovery of the ABO gene, several hundred variant alleles resulting in subtypes have been characterized and reported in the Blood Group Antigen Gene Mutation Database. In this report, we present a novel missense mutation (c.98G>C) in Exon 2 of the ABO gene with a B subtype that has been identified in a Chinese individual.

Two novel mutations in KLF1 were identified in Chinese individuals with In(Lu) phenotype: NOVEL MUTATIONS IN KLF1

I n the In(Lu) phenotype, Lutheran antigens are barely detectable and there is also weakened expression of some other blood group antigens outside of the Lutheran system. The frequency of the In(Lu) phenotype was approximately 1 in 3000 blood donors in South-East England and 1 in 5000 of South Wales blood donors. It was reported that the In(Lu) phenotype may result from heterozygosity for inactivating mutations in KLF1. Here, we report that two novel mutations in KLF1 were responsible for the In(Lu) phenotype.

c.49T>C mutation on the α-(1,2)-fucosyltransferase gene responsible for an individual with para-Bombay phenotype: MUTATION ON THE α-(1,2)-FUCOSYLTRANSFERASE GENE

T he H blood group phenotype is uniquely dependent on the expression of a-(1, 2)-fucosyltransferase enzyme, the product of FUT1 gene. The Bombay and para-Bombay phenotypes in the H blood group are characterized by the deficiency of H blood group antigens on red blood cells (RBCs). It was proved that the inactive alleles of the FUT1 will affect the H antigen expression on RBCs and result in the Bombay and para-Bombay phenotypes. Currently, more than 55 silencing or weakening mutations of FUT1 have been described in the dbRBC of NCBI. Here, we report a novel mutation c.49T>C of FUT1 that was identified in an individual with paraBombay phenotype in China.

c.518T > C missense mutation in the B glycosyltransferase gene responsible for a weak B variant: A RARE NOVEL B ALLELE IN A B VARIANT

A BO genotyping is not a routine practice for donors and patients in clinical transfusion. However, it is useful for resolving the cases of ABO blood group discrepancies. The genotype of the variant is crucial for elucidating the mechanisms of the ABO blood subgroup. Here, we report a molecular basis of missense mutation (c.518T>C) in Exon 7 of the B glycosyltransferase gene, which is responsible for a weak B variant.

Simultaneous genotyping of human platelet alloantigen‐1 to 28bw systems by multiplex polymerase chain reaction sequence‐based typing

Human platelet alloantigen (HPA) genotyping is important for the diagnosis and prevention the alloimmune platelet disorders. In this study, a simultaneous genotyping method for HPA‐1 to ‐28bw systems was established using multiplex PCR‐SBT and the frequencies of genotypes and alleles of HPA‐1 to ‐28bw systems in the Zhejiang Han population were analysed.