云南汉族系统性红斑狼疮的易感及抵抗单体型研究

目的：探讨云南汉族系统性红斑狼疮（SLE）在HLA－DRB1、DQA1、DQB1等座位的易感抵抗单体型,方法：采用多聚酶链反应－序列特异性引物（PCR－SSP）技术对63例动态汉族SLE患者及54名同民族健康对照进行DRB1、DQA1、DQB1基因分型。结果：与正常对照组比较,SLE病人中有5个单体型频率显著升高;11个单体型频率在病例组中明显降低。结论：云南汉族SLE的易感单体型为DQA1^*0102-DQB1^*0601,DR15-DQA1^*0102-DQB1^*0601,DR15-DQA1^*0102-DQB1^*0602,DR15-DQA1^*0101-DQB1^*0601,DR15-DQA1^*0103-DQB1^*0601;其余均为低抗单体型。     

序列特异性引物PCR法检测Rh血型E/e基因型

目的　建立Rh血型E/e基因分型的方法，以检测人群中E/e基因频率。方法　采用快速盐析法抽提样本DNA，采用PCR—SSP方法检测E/e基因。结果　在本研究的RhD阳性人群中E基因频率为0.223，e基因频率为0.777。RhD阴性人群中E基因频率为0.040，e基因频率为0.960。结论　人群中以e基因为主，Rh阳性与阴性人群中E和e基因频率存在明显的差异。     

HLA－DRB1等位基因与中国湖北汉族人SLE关联的研究

在国内首次借助ＰＣＲ／ＳＳＰ技术对５２例湖北汉族人ＳＬＥ患者进行了ＨＬＡ－ＤＲＢ１基因型别分析。结果发现，实验组ＨＬＡ－ＤＲＢ１＊０３０１基因频率为２４％，表型频率为４４．２％，ＲＲ＝４．７６，χ２＝２１．２，Ｐ＜０．０１；其它等位基因频率在实验组与对照组间差异无显著性。该结果提示ＨＬＡ－ＤＲＢ１＊０３０１基因与ＳＬＥ有关联     

Experimental and clinical characteristics in myelodysplastic syndrome patients with or without HLA‐DR15 allele

We studied the effects of the presence of the HLA‐DR15 allele on the experimental and clinical features of myelodysplastic syndrome (MDS) by assessing the clinical data of 136 patients with MDS. We observed that the frequency of HLA‐DR15 expression in MDS patients (38.7%) was significantly higher than that in the healthy controls (p < 0.01). We noted the following observations with regard to disease progression: None of the 46 HLA‐DR15 positive patients with international prognostic scoring system (IPSS) scores ≤1 developed acute myeloid leukaemia (AML) during the follow‐up period, while six of the 63 DR15‐negative patients with the same IPSS score developed AML within a shorter follow‐up period (p = 0.039). Furthermore, the incidence of poor chromosomal abnormalities, the percentage of patients with IPSS scores ≥1.5 and the presence of ≥5% blasts in the bone marrow in the DR15‐positive patients were lower than the corresponding findings in the DR15‐negative patients. In addition, we also recorded the following observations with regard to bone marrow (BM) failure: The bicytopenia/pancytopenia ratio in the DR15‐positive patients was higher than that in the DR15‐negative patients (92.4 vs. 78.3%; p = 0.029). The peripheral–neutrophil count and the platelet count in the DR15‐positive patients were lower than those in the DR15‐negative patients (p = 0.028 and p = 0.011, respectively). Moreover, hypocellularity was more easily detectable in the DR15‐positive patients (26.4 vs. 16.9%). In addition, the BM CD4+ lymphocyte count and the CD4/CD8 ratio in the DR15‐positive patients were higher than the corresponding values in the DR15‐negative patients (p < 0.05 for both). However, there were no significant differences between the polarization of T‐helper (T_h) and T‐cytotoxic (T_c) cells and the cytokine levels in these two patient groups. We concluded that the presence of the HLA‐DR15 allele is indicative of a genetic susceptibility to MDS and, the presence of the HLA‐DR15 allele showed less association with disease progression and greater association with BM failure. Copyright © 2009 John Wiley & Sons, Ltd.     

In vitro storage characteristics of platelet concentrates suspended in 70% SSP+(TM) additive solution versus plasma over a 14-day storage period

Background and Objectives The non‐paired two‐arm study compared the in vitro storage characteristics of platelets suspended as concentrates in either 100% plasma or a mixture of additive solution (SSP+?, MacoPharma, Mouveaux, France) and autologous plasma in a 70:30 ratio over a 14‐day storage period. Materials and Methods The buffy coat‐derived pooled platelet concentrates were sampled on days 1, 2, 3, 6, 8, 10 and 14 and tests performed to determine platelet morphology, function, metabolism, activation and apoptosis‐like activity. Results Swirling remained strong (score = 3) in SSP+?, whilst scores of 1 and 0 were noted for plasma units by end of storage. In contrast to units in plasma, pH levels remained above seven in SSP+? units, increasing after day 10. Percent positive expression of CD62P was similar in both groups on day 1 (median of 54% and 56% for plasma (n = 13) and SSP+? (n = 12), respectively), with SSP+? units showing a more moderate increase in activation after day 10. A progressive decrease in mitochondrial membrane potential was evident in both groups from day 1, whilst annexin V binding was relatively stable from days 1 to 3, with median values remaining below 6%. Subsequent to this, the percentage of platelets binding annexin V increased to approximately 30% by day 14. Conclusion Platelets suspended in a medium of 70:30 SSP+? to plasma ratio performed at least as well as platelets in 100% autologous plasma for up to 10 days of storage. Further, results are suggestive of an apoptosis‐like process being involved in the platelet storage lesion.     

Whole-genome analysis and HLA genotyping of enteropathy-type T-cell lymphoma reveals 2 distinct lymphoma subtypes

BACKGROUND & AIMS: Enteropathy-type T-cell lymphoma (ETL) is an aggressive extranodal T-cell non-Hodgkin lymphoma assumed to arise in the setting of celiac disease. METHODS: To precisely define the genetic alterations underlying the pathogenesis of ETL, 30 ETL samples were profiled for genetic copy number alterations using high-resolution whole-genome tiling path array comparative genomic hybridization. To investigate the potential association of genetic alterations in ETL with celiac disease, HLA-DQB1 genotyping was performed. RESULTS: By array comparative genomic hybridization, 13 novel recurrent minimal regions of chromosomal alteration were identified on multiple chromosome arms. ETL is characterized by frequent complex gains of 9q31.3-qter (70% of cases), or by an almost mutually exclusive 2.5-megabase loss of 16q12.1 (23% of cases). Two distinct groups of ETL could be delineated morphologically and genetically: type 1 ETL is characterized by nonmonomorphic cytomorphology, CD56 negativity, and chromosomal gains of 1q and 5q. Type 1 ETL also appears to be linked pathogenetically to celiac disease, sharing genetic alterations and HLA-DQB1 genotype patterns with (refractory) celiac disease. Type 2 ETL shows monomorphic small- to medium-sized tumor cell morphology, frequently shows CD56 expression, MYC oncogene locus gain, and rare gains of chromosomes 1q and 5q. In contrast to type 1 ETL, type 2 ETL shows a HLA-DQB1 genotype pattern more resembling that of the normal Caucasian population. CONCLUSIONS: Contrary to current clinical classification, ETL comprises 2 morphologically, clinically, and genetically distinct lymphoma entities. In addition, type 2 ETL may not be associated with celiac disease.     

Gene frequencies of human platelet alloantigens in Bahraini Arabs

Human platelet antigens (HPA) are implicated in the pathophysiology of certain hematological disorders, and as varied distribution of HPA-1 alleles and genotypes were reported fordifferent countries and ethnic populations, we determined the distribution of HPA-1, -2, -3, -4, and -5 alleles, genotypes and haplotypes for 194 healthy Bahraini subjects by polymerase chain reaction with sequence specific primers. The distribution of the HPA polymorphisms was in Hardy-Weinberg equilibrium. Allele frequencies of 0.76 and 0.24 (HPA-1a and -1b), 0.77 and 0.23 (HPA-2a and -2b), 0.57 and 0.43 (HPA-3a and -3b), 0.93 and 0.07 (HPA-4a and -4b), and 0.86 and 0.13 (HPA-5a and -5b) were seen. With the exception of HPA-3a/a (30.4%), the frequencies of homozygous HPA-1a/a (56.8%), 2a/a (60.1%), 4a/a (87.2%), and 5a/a (75.7%) were higher than those of heterozygous (a/b) or homozygous (b/b) variants. Our results provide basic information for further studies of the HPA system polymorphism, which in turn will be instrumental in understanding and treating immune-mediated platelet disorders.