OBJECTIVE: To explore the molecular basis for a rare case with Para-Bombay AB blood type. METHODS: Serological method was used to determine the blood type of the proband. Exons 6 and 7 of the ABO gene and the coding regions of FUT1 and FUT2 genes were analyzed by direct sequencing. RESULTS: Serological results showed that the proband was a Para-Bombay AB subtype. His genotype was determined as ABO*A1.02/B.01. The proband was also found to harbor c.551-552delAG and c.881-882delTT of the FUT1 gene. For his four children, there were three type B and one type A, though the expression of the H type was normal. CONCLUSION The double deletions in the coding region of the FUT1 gene probably underlay the Para-Bombay blood type in the proband. Carrier of single-strand deletions may have a normal ABO phenotype.
ABO Blood-Group System/genetics* ; Alleles ; Fucosyltransferases/genetics* ; Genotype ; Humans ; Male ; Phenotype ; Sequence Analysis

Objective To investigate the diagnostic value of enzyme-linked immunosorbent assay combined with bronchoalveolar lavage fluid tuberculosis Xpert detection in smear negative pulmonary tuberculosis. Methods From August 2015 to August 2016 ,68 cases of smear negative pulmonary tuberculosis ,admitted in the hospital ,were enrolled in the study.Enzyme-linked immunosorbent assay and bronchoalveolar lavage fluid tuberculosis Xpert detection were used in the study.The results of enzyme-linked immunosorbent assay and tuberculosi sXpert detection were compared with sputum culture results ,and their diagnostic values for smear negative pulmonary tuberculosis were analyzed.Results The clinical manifestations of pulmonary tuberculosis were mainly nocturnal sweating ,fever ,cough and expectoration.The results of X-ray and CT examinations showed that the lesions were mostly patchy or in cloudy opacity.The diagnostic accuracy of the combined ex-amination for different types of pulmonary tuberculosis was significantly higher than single detection of en-zyme-linked immunosorbent assay or tuberculosis Xpert detection ,and the difference was statistically signifi-cant (P＜ 0.05).The sensitivity of enzyme-linked immunosorbent assay was 88.46%,the specificity was 69.05%,and the accuracy was 76.47%;the sensitivity of tuberculosis Xpert detection was 80.77%,the speci-ficity was 52.38%,and the accuracy was 63.23%;the sensitivity of the combined detection was 92.30%,the specificity was 78.57%,and the accuracy was 83.82%;the sensitivity ,the specificity and the accuracy of the combined detection for diagnosis of smear negative pulmonary tuberculosis were significantly increased ,and the difference was statistically significant (P＜0.05).Conclusion The enzyme-linked immunosorbent assay combined with bronchoalveolar lavage fluid tuberculosis Xpert detection has important value in the diagnosis of smear negative pulmonary tuberculosis.It is a simple ,rapid and effective method of examination.