In order to analyze the genotype of RhD-negative blood donors with immune antibodies in Harbin, the voluntary blood donors from 1 April 2008 to 30 september 2011 were detected serologically to determine the RhD-negative donors. The blood donors confirmed to be RhD negative were detected to screen the immune antibodies, the samples with immune antibodies were analyzed by PCR-SSP and DNA sequencing to detect RhD genotype. The results showed that the 12 cases of the immune antibodies (0.95%) were screened out from 1265 cases of RhD-negative donors, among which 9 cases showed anti-D-antibody, 3 cases showed anti-(D+C) antibody; 10 cases were RhD-negative, 2 cases were RHD 711D(el)C. It is concluded that RhD negative and RHD 711D(el)C are easy to be immunized to produce the immune antibodies; RhD-negative population, especially women should be highly aware of avoiding mis-transfusion of RhD-positive blood, and also avoiding multiple pregnancies resulting in newborn's hemolytic disease.
Base Sequence ; Blood Donors ; Exons ; Genotype ; Humans ; Isoantibodies ; Phenotype ; Rh-Hr Blood-Group System ; genetics ; immunology ; Rho(D) Immune Globulin

Objective To assess the association of synovial cyclic citrullinated peptide(CCP)expression with T helper 17(Th17) cells/Regulatory T cells (Treg) imbalance,the histological and clinical features of synovitis in rheumatoid arthritis (RA).Methods CCP expression in synovial specimens from 39 patients with RA and 35 controls was detected by immunohistochemistry assay(IH) using 6×His tagged anti-CCP single chain fragment V (ScFv) antibodies,which were generated by pHEN2 phagemid recombinant antibodies display system.The frequencies of Th17/Treg cells in the peripheral blood mononuclear cells (PBMCs) were determined by flow cytometry (FCM).Th17/Treg cells associated cytokines were analyzed by enzyme-linked immunosorbent assay (ELISA).The histological scores and clinical features of synovitis were included in the study.Chi-square test and ANOVA were used for statistical analysis.Results ① The prevalences of synovial C CP expression were significantly different between RA group and the control(76.9％ and 11.4％ respectively,X2=31.9,P＜0.01).② The frequencies of Th17 cells,Th17/Treg ratio,Th17 cells associated cytokines as IL-6,IL-17a,IL-23,TNF-α,and the Treg cells associated cytokines TGF-31,the serum and synovial fluid anti-CCP antibodies in the RA patients with synovial CCP positive expression were significantly higher in RA patients with CCP positive than those with CCP negative.Disease activity score DAS28 index and histological features quantified variations of the synovial biopsy specimens (synoviocyte hyperplasia,focal aggregates of lymphocytes,and diffuse infiltrat(e)s of lymphocytes) in RA were higher in synovial CCP positive expression patients than in the negative.Conclusion Synovial CCP expression is strongly associated with the Th17/Treg imbalance and synovitis,which may play a crucial role in the pathogenesis of RA.

OBJECTIVETo study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population.

METHODSPeripheral blood samples of 36 patients and their parents with classical type phenylketouria (PKU) were collected. Genomic DNA was extracted. Following PCR amplification, DNA sequencing was carried out to identify the origins of mutations.

RESULTSTwenty types mutations were identified in 63 of the 72 alleles. The most common mutations were R241C, R408Q and Ex6-96A>G, which respectively accounted for 15.9%, 12.7% and 11.1% of all mutant alleles. The c.189_190dupTGAC mutation was first reported. R241C was associated with 28% of mild hyperphenylalaninemia and R408Q is associated with 25% of classical PKU.

CONCLUSIONThere is a specific spectrum of PAH gene mutation in Fujian region. R241C, R408Q and Ex6-96A>G are the most common mutations.

Adolescent ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; Female ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; enzymology ; genetics

BACKGROUNDNitric oxide (NO) is an important mediator in the pathophysiology of many vascular diseases. However, the definite role of NO in human abdominal aortic aneurysm (AAA) formation is unclear. The aim of this study was to investigate production of NO and expression of inducible nitric oxide synthase (iNOS), and their possible role in AAA.

METHODSA total of 28 patients with AAA, 10 healthy controls, and 8 patients with arterial occlusive disease were enrolled into this study. Standard colorimetric assay was used to examine NO concentration in plasma from patients with AAA and normal controls, and in cultured smooth muscle cells (SMCs). Expression of iNOS in aortas and cultured SMCs were detected by immunochemistry. The correlation of iNOS expression with age of the patient, size of aneurysm, and degree of inflammation was also investigated by Cochran-Mantel-Haenszel chi2 test and Kendall' Tau correlation.

RESULTSExpression of iNOS increased significantly in the wall of aneurism in the patients with AAA compared to the healthy controls (P < 0.05) and the patients with occlusive arteries (P < 0.05). iNOS protein and media NOx (nitrite + nitrate) also increased in cultured SMCs from human AAA (n = 4, P < 0.05), while plasma NOx decreased in patients with AAA (n = 25) compared to the healthy controls (n = 20). There was a positive correlation between iNOS protein and degree of inflammation in aneurismal wall (Kendall coefficient = 0.5032, P = 0.0029).

CONCLUSIONSSMCs and inflammatory cells were main cellular sources of increased iNOS in AAA, and NO may play a part in pathogenesis in AAA through inflammation.

Adult ; Aged ; Aortic Aneurysm, Abdominal ; etiology ; Apoptosis ; Female ; Humans ; Male ; Middle Aged ; Muscle, Smooth, Vascular ; pathology ; Nitric Oxide ; physiology ; Nitric Oxide Synthase Type II ; analysis ; physiology