Blood and genomics最新文献_第5页

Establishment of laboratory quality control indicators for NAT on blood donors' samples 献血者标本NAT实验室质量控制指标的建立

Blood and genomics Pub Date : 2019-01-01 DOI: 10.46701/apjbg.2019012018135

Ziyi He, Shaobin Chen, Lin Yu, Qing Wang, Jiaoli Zou

{"title":"Establishment of laboratory quality control indicators for NAT on blood donors' samples","authors":"Ziyi He, Shaobin Chen, Lin Yu, Qing Wang, Jiaoli Zou","doi":"10.46701/apjbg.2019012018135","DOIUrl":"https://doi.org/10.46701/apjbg.2019012018135","url":null,"abstract":"In order to establish and screen nucleic acid test (NAT) quality control indicators for blood donor samples, CT value of each test item were detected by NAT, internal and external quality controls, the number of unsuccessful mixed samples, the split positive rate, the rate of detection efficiency, and the equipment failure rate were collected. The \"instant method\" is used to establish the Levey-Jennings quality control chart, the mixed test positive rate, the rate of unqualified sample. Possion distribution is used to establish the quality control chart, and it is easily to operate and monitor NAT effectively. The results displayed that quality control charts were established, including unqualified sample Possion distribution quality control chart, the rate of equipment failure quality control chart, the failure rate of reagent batch and inefficient quality control chart, test result positive of Possion distribution quality control chart, quality control charts of NAT positive Possion distribution probability, the rate of split positive quality control charts, quality control charts of unsuccessful mixed samples, quality control chart of reagents effective rate, internal quality control chart, correctness, and NAT qualitative quality control chart. The study established quality control indicators throughout the whole NAT process, which were able to effectively improve NAT quality control and the efficacy of laboratory management.","PeriodicalId":87226,"journal":{"name":"Blood and genomics","volume":"67 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74142326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

HLA class II alleles with susceptibility of leprosy in the Mexican Mestizo population 墨西哥混血儿人群中与麻风病易感性相关的HLA II类等位基因

Blood and genomics Pub Date : 2019-01-01 DOI: 10.46701/apjbg.2019022019117

Sergio Mercado Ceja, Lucía Rangel Gamboa, M. V. Memije, Angélica Olivo Díaz, J. Granados

{"title":"HLA class II alleles with susceptibility of leprosy in the Mexican Mestizo population","authors":"Sergio Mercado Ceja, Lucía Rangel Gamboa, M. V. Memije, Angélica Olivo Díaz, J. Granados","doi":"10.46701/apjbg.2019022019117","DOIUrl":"https://doi.org/10.46701/apjbg.2019022019117","url":null,"abstract":"Leprosy is a chronic, infectious disease, caused by Mycobacterium leprae, Mycobacterium lepromatosis or both, which affects the peripheral nervous system and the skin. Activation of cellular immunity in infected individuals depends on antigen recognition, which involves relevant HLA-Class II alleles. Therefore, the objective of this study was to determine HLA-Class II allele frequencies (HLA-DRB1and-DQB1)in Mexican Mestizo leprosy patients and compare themwith healthy controls, in order to define their role in the genetic susceptibility to this infection.The genomic DNA of each participant was obtained from peripheral blood, using the salting-out method. PCR amplification and hybridization ofHLA-class II alleleswas made by PCR-SSO. The results showed that frequencies of HLA-DRB1*15(Pc =0.003, OR=3.3 95%CI=1.53-7.33), HLA-DQB1*05(Pc =0.00003, OR=6.03 95%CI=2.49-14.61) and HLA-DQB1*06 (Pc =0.007, OR=2.89, 95%CI=1.38-6.04) were significantly higher among leprosypatients than those of healthy controls. The study suggests that HLADRB1*15, HLA-DQB1*05, and HLA-DQB1*06 are associated with leprosy susceptibility in the Mexican Mestizo population.","PeriodicalId":87226,"journal":{"name":"Blood and genomics","volume":"26 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73700212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Iron stores in Chinese eligible male plateletpheresis donors 中国合格男性采血小板者体内铁含量

Blood and genomics Pub Date : 2019-01-01 DOI: 10.46701/apjbg.2019022019115

L. Shao, Jinhua Wang, Shaowen Zhu, Hong Lin

引用次数: 2

Detection of RHD zygosity in China: using Syber Green Ⅰ real-time polymerase chain reaction based on high-resolution melting curve analysis 利用Syber GreenⅠ基于高分辨率熔融曲线分析的实时聚合酶链反应检测中国RHD合子性

Blood and genomics Pub Date : 2019-01-01 DOI: 10.46701/APJBG.2019012019103

Minyu Zhou, Zhiyuan Xu, Jingyan Chang, Xiaojie Zhu, Yushiang Lin

{"title":"Detection of RHD zygosity in China: using Syber Green Ⅰ real-time polymerase chain reaction based on high-resolution melting curve analysis","authors":"Minyu Zhou, Zhiyuan Xu, Jingyan Chang, Xiaojie Zhu, Yushiang Lin","doi":"10.46701/APJBG.2019012019103","DOIUrl":"https://doi.org/10.46701/APJBG.2019012019103","url":null,"abstract":"Due to relatively higher mutation frequencies in Chinese individuals with the RHD-negative phenotype[25% for 1227 G>A RHD elution and 5% for RHD1-RHCE(2-9)-RHD10], Rhesus box analysis is rarely used in China. Here, quantitative real-time polymerase chain reaction (qPCR) with a high-resolution melting curve mode and a matrix mix containing Syber Green I were used to sequence specific primers of 1227 G>A and RHD exons 1, 5, and 10 in two families, consisting of two parents and two children per family (n = 8). The samples with RHD gene deletion homozygous/heterozygous, 1227 G>A heterozygous with RHD gene deletion and normal RHD, normal RHD homozygous/heterozygous, and RHD1-RHCE(2-9)-RHD10 homozygous/heterozygous status were all included. All samples were screened using RHD exon genotyping, Sanger sequencing, and Rhesus box analysis. DNA sample quality was maintained at 68~72 ng/μL, and OD260/280 at 1.7~1.9. The Tm ratio of RHD exon 1 (87°C ) to internal control (77°C ) was 2.49~2.67 and 2.09~2.35 in subjects with RHD exon 1 homozygous and heterozygous, respectively; the Tm ratio of RHD exon 10 (81°C ) to internal control (77°C ) was 5.01~6.11 and 3.34~4.31 in subjects with RHD exon 10 homozygous and heterozygous, respectively; the Tm ratio of RHD exon 5 (83°C ) to internal control (77°C ) was 3.98~4.75, 3.02~3.45, and 0.03 in subjects with RHD exon 5 homozygous, heterozygous, and deletion homozygous, respectively; the Tm ratio of 1227A (87°C ) to internal control (77°C ) was 1.11, 0.51, and <0.03 in subjects with 1227A heterozygous, 1227A homozygous (exon 9 deletion), and wild type, respectively. The results suggest that using the primers of Tm ratio in comparison with an internal control is an effective way to detect RHD gene deletion or RHD-RHCE hybrid variant allele carrier. The method can also be used to calculate the mother-newborn RHD phenotype proportion and assist pedigree analysis.","PeriodicalId":87226,"journal":{"name":"Blood and genomics","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75419978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Experimental model systems for preclinical research on Waldenström macroglobulinemia Waldenström巨球蛋白血症临床前研究的实验模型系统

Blood and genomics Pub Date : 2019-01-01 DOI: 10.46701/apjbg.2019012019114

Fumou Sun, Yan Cheng, S. Janz

{"title":"Experimental model systems for preclinical research on Waldenström macroglobulinemia","authors":"Fumou Sun, Yan Cheng, S. Janz","doi":"10.46701/apjbg.2019012019114","DOIUrl":"https://doi.org/10.46701/apjbg.2019012019114","url":null,"abstract":"Waldenström macroglobulinemia (WM) is an incurable low-grade lymphoplasmacytic lymphoma of mature IgM B-lymphocytes that warrants additional research to increase therapeutic options, enhance quality of life, and improve survival of patients with WM. Here we concluded a miniseries of short reviews on the diagnosis and treatment , natural history [2] and putative cell-of-origin of WM [3] with a brief survey of preclinical experimental model systems available for fundamental and translational research studies on this enigmatic neoplasm. The model systems comprise of: 1 continuous tumor cell lines, three of which are well authenticated and demonstrated to be derived from the patient's index tumor; 2 human-in-mouse xenografts that rely on immunodeficient laboratory mice, adapted to carry small fragments of implanted human bone, to provide a suitable microenvironment for incoming lymphoma cells; and 3 genetically engineered mouse models (GEMMs) of neoplastic B-cell development, in which WM-like tumors arise spontaneously in the presence of fully functional innate and adaptive immune systems. Because none of the models developed thus far are perfect, additional efforts are required to achieve a better preclinical representation of disease characteristics of WM. To achieve that goal, the active involvement of basic and clinical research experts from China is called for, so novel drugs and immunotherapies for WM will reach clinics sooner, thereby ensuring the future of patients with WM will be brighter.","PeriodicalId":87226,"journal":{"name":"Blood and genomics","volume":"41 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81989114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pedigree analysis for the rare RHD DVa allele: serological and molecular studies 罕见RHD DVa等位基因的家系分析:血清学和分子研究

Blood and genomics Pub Date : 2019-01-01 DOI: 10.46701/APJBG.2019012019102

Jing-Jing Gao, Xiongpeng Zhu, Jinzhe Tan, Mingquan Wang, Wen-qian Xu, Jhy Sheng Chang

引用次数: 0

Eg5 high expression predicts dismal prognosis in epithelial ovarian cancer Eg5高表达预示上皮性卵巢癌预后不良

Blood and genomics Pub Date : 2019-01-01 DOI: 10.46701/apjbg.2019022019128

Pingping Sun, Xuemin Cao, Yuanlin Liu, Lizhou Jia

{"title":"Eg5 high expression predicts dismal prognosis in epithelial ovarian cancer","authors":"Pingping Sun, Xuemin Cao, Yuanlin Liu, Lizhou Jia","doi":"10.46701/apjbg.2019022019128","DOIUrl":"https://doi.org/10.46701/apjbg.2019022019128","url":null,"abstract":"The expression of kinesin spindle protein (Eg5) and its significance of clinical prognosis of patients with epithelial ovarian cancer (EOC) were evaluated in this study. Forty-five fresh frozen tissue samples for quantitative real-time polymerase chain reaction (qPCR) and 196 samples for immunohistochemistry (IHC) analysis with tissue microarray (TMA) were applied to characterize Eg5 mRNA and protein expressions in EOC. The correlation between clinical parameters and Eg5 protein expression was investigated using statistical analysis. The expression of Eg5 protein was significantly higher in EOC tissues compared with that in corresponding non-cancerous tissues (P < 0.05). The high Eg5 expression was significantly correlated with older age (P = 0.003), higher stage (P = 0.001), presence of metastasis (P = 0.041) and higher CA125 serum level (P = 0.013). For univariate analysis, associated prognostic markers in patients with ovarian cancer were analyzed for correlations with poor overall survival, including Eg5 (P = 0.011), age (P = 0.001), FIGO stage (P = 0.011), CA125 serum level (P = 0.001), lymph nodes (P = 0.012), and metastasis (P = 0.001). For multivariate analysis, Eg5 expression, FIGO stage and age were independent factors found contributing to a largely unfavorable prognosis in patients with ovarian cancer. In conclusion, the high expression of Eg5 is correlated with an unfavorable prognosis in EOC.","PeriodicalId":87226,"journal":{"name":"Blood and genomics","volume":"27 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80577602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Myelodysplastic syndrome with ring sideroblasts, SF3B1 mutation and beta thalassemia trait: a case of report 骨髓增生异常综合征伴环状铁母细胞、SF3B1突变和地中海贫血特征:1例报告

Blood and genomics Pub Date : 2019-01-01 DOI: 10.46701/apjbg.2019022019120

Amin Hojat, G. Kao, M. Pilichowska

{"title":"Myelodysplastic syndrome with ring sideroblasts, SF3B1 mutation and beta thalassemia trait: a case of report","authors":"Amin Hojat, G. Kao, M. Pilichowska","doi":"10.46701/apjbg.2019022019120","DOIUrl":"https://doi.org/10.46701/apjbg.2019022019120","url":null,"abstract":"Anemia is the most frequent blood disorder and is defined as a decrease in red blood cell (RBC) mass. Hemoglobin <135 g/L or hematocrit (HCT)<0.41 represents anemia in men while the values for women are <120 g/L or <0.36 respectively. Globally, anemia affects 1.62 billion people(24.8% of the population). World Health Organization regional estimates generated for preschool-age children and pregnant and nonpregnant women indicated that the highest incidence was in South-East Asia, where 315 million individuals in these three population groups were affected, with highest prevalence reported in preschool-age children. Anemia is a symptom that requires investigation to determine its underlying etiology. This can be difficult as multiple causes need to be considered, falling into three independent mechanisms: decreased RBC production (ineffective erythropoiesis), increased RBC destruction and blood loss. Thalassemia, sideroblastic anemias and myelodysplastic syndromes are common causes of ineffective erythropoiesis. Thalassemia is a group of hereditary blood disorders, characterized by abnormal hemoglobin production as a result of mutations in either alpha or beta-globin chain genes of hemoglobin. Defects involving the incorporation of iron into the heme molecule result in sideroblastic anemias. Sideroblastic anemias may be either congenital or acquired. The most commonly acquired sideroblastic anemia is myelodysplastic syndrome with ring sideroblasts(MDS-RS). It has been shown that the splicing factor 3b subunit 1 gene (SF3B1) is frequently mutated in MDS-RS. Concurrent cases of MDS-RS and beta thalassemia are rare and can present adiagnostic challenge.","PeriodicalId":87226,"journal":{"name":"Blood and genomics","volume":"188 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77784720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Advances in ABO gene expression regulation ABO基因表达调控研究进展

Blood and genomics Pub Date : 2019-01-01 DOI: 10.46701/apjbg.2019022019125

Xiaoya Yang, Gengyin Wang

引用次数: 4

Lewis (Le) blood group system phenotypes and genotypes Lewis (Le)血型系统表型和基因型

Blood and genomics Pub Date : 2019-01-01 DOI: 10.46701/apjbg.2019012019109

G. Misevic

引用次数: 0