Molecular genetic analysis of a family trio with weak B phenotype / 中华医学遗传学杂志

OBJECTIVE@#To explore serological and molecular characteristics of a family trio with weak B phenotype.@*METHODS@#ABO blood type of the family was determined with a serological method. Genotypes of the ABO gene were determined with PCR-sequence specific primer (PCR-SSP). Sequences of exons 6 and 7 of the ABO gene were analyzed by PCR sequence-based testing.@*RESULTS@#Serologically, the proband and her father were determined as B subtype (Bw), while her mother was of O group. The genotypes of the proband and her father were Bw12/O, while her mother was O01/O01. Sequencing of exons 6 and 7 of the ABO gene confirmed that the proband and her father were Bw12/O01. Compared with B101/O01, the Bw12 subtype carried a missense mutation (278C>T) in exon 6 of the ABO gene.@*CONCLUSION@#The 278C>T mutation probably underlies the Bw phenotype and can be transmitted stably.

Survey and analysis of testing capabilities of clinical transfusion laboratories in medical institutions in Beijing / 中华医院管理杂志

Objective To investigate the testing capabilities of clinical transfusion laboratories in medical institutions in Beijing for the regulatory authorities to formulate administrative policies in this regard.Methods Experts assigned by Beijing Clinical Transfusion Quality Control Center made on-site inspections at the transfusion laboratories in medical institutions using quality control products.They recorded the complete testing process of the operators as well as the instruments,detection reagents in use and the testing results,with statistics and analysis made to the data so collected.Results The pass rate of these on-site inspections was lower than that of the external quality assessment.Some laboratories failed to complete the testing of the quality control products in time and the actual operations in some laboratories were inconsistent to the guidelines.55.9％ of level Ⅰ hospitals and 25.6％ of level Ⅱ hospitals were found with insufficient and inadequate instruments and process layout to meet the needs of clinical blood transfusion.Some of the technicians were found without sufficient trainings in their professional knowledge and basic skills,resulting in their poor competence against emergency cases and weakness in independent problem solving.In addition,the records of detection process and results were found to be substandard.Conclusions Transfusion laboratories in Beijing need to improve their testing capabilities in general.