OBJECTIVETo analyze a sample with ABO subgroup using serological and molecular methods.

METHODSThe ABO phenotype of the sample was determined with a tube method, and the activity of glycosyltransferases was determined with an uridine diphosphate galactose transferring method. The ABO gene of the propositus was identified by PCR with sequence-specific primers (PCR-SSP). In addition, exons 6 and 7 of the ABO gene were cloned and sequenced.

RESULTSNeither A nor B antigen was identified in the propositus, despite that its anti-B antibody was found to be attenuated. No activity of α -1, 3-D-galactosyltransferase was detected in the serum. The presence of B and O alleles were confirmed by PCR-SSP, and a novel mutation (562C to T) of the exon 7 was confirmed by sequencing, which has led to an amino acid substitution (Arg to Cys) at position 188. The genotype of the propositus was determined as Bnew/O.

CONCLUSIONA novel B allele has been identified, which was named as Bw39 by the Blood Group Antigen Gene Mutation Database (BGMUT).

ABO Blood-Group System ; genetics ; Adult ; Alleles ; Amino Acid Substitution ; Base Sequence ; Exons ; Galactosyltransferases ; genetics ; Humans ; Male ; Molecular Sequence Data ; Point Mutation

OBJECTIVE: To study MSCT perfusion imaging of nasopharyngeal cancer and its differentiated diagnosis. METHOD: Thirty cases with nasopharyngeal cancer performed multi-detector CT perfusion examination. Among them, there were 6 cases of 25 post-radiotherapy patients performed perfusion imaging with CT scan. Nasopharynx perfusion parameters include blood flow (BF), blood volume (BV), mean transit time (MTT) and permeability surface (PS). RESULT: Compared with normal region of nasopharynx, BF, BV and PS in nasopharyngeal cancer increased significantly, while MTT has not significant difference between these two areas. CONCLUSION Nasopharynx perfusion parameters (BF, BV and PS) measured with CT were significantly altered in nasopharyngeal cancer. There was important appliance value in differentiated diagnosis of nasopharyngeal malignant neoplasms and evaluation of outcome of radiotherapy of nasopharyngeal cancer.
Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Male ; Middle Aged ; Nasopharyngeal Neoplasms ; diagnostic imaging ; Perfusion ; Tomography, Spiral Computed ; methods