Sequence analysis for a case with Para-Bombay AB blood type / 中华医学遗传学杂志

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.

Relationship between methylenetetrahydrofolate reductase gene polymorphism and unstable angina pectoris disease / 中国综合临床

Objective To explore the relationship between methylenetetra hydrofolate reduetase (MTHFR) C677T genotypo and unstable angina pectoris(UA) in Chinese population. Methods The study consisted of 90 UA cases (UA group), and an age- and sex- matched healthy control cases (control group, n = 90). PC R-RFLP was used to analyze polymorphism of the MTHFR C677T genotypo. The relationship between MTHFR C677T genotype and UA was observed. Results MTHFR 677C→T mutation was found in 30 of 90 patients with unstable angina pectoris (33.33%) and in 15 of 90 control subjects (16.67%). This difference was statistically significant (P<0.05). Conclusion MTHFR 677C→T mutation is closely related to the unstable angina poctoris.

Metallo-?-lactamase Produced by Carbapenem-resistant Pseudomonas aeruginosa / 中华医院感染学杂志

OBJECTIVE To study the metallo-?-lactamases of 5 carbapenem resistant Pseudomonas aeruginosa isolates,which were recovered at 2006 in the Third People's Hospital of Yueqing. METHODS K-B method was used to determine the antimicrobial agents susceptibility in 5 isolates. The minimal inhibitive concentrations (MICs) of antimicrobial agents to these strains were determined by agar dilution method. Double disk synergy test was used to detect the metallo-?-lactamase. Molecular screening for blaIMP,blaVIM,and blaSPM was carried out using PCR method. The PCR product was sequenced. RESULTS One out of the 5 carbapenem resistant P. aeruginosa was positive for MBL double disk synergy test,and confirmed to contain blaVIM-2 gene. CONCLUSIONS A blaVIM-2-producing isolate of P. aeruginosa is identified. This carbapenem-resistant isolate is all multi-drug resistant.