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Genotyping blood Group

Lisa Dähnert, Martin Eiden, Josephine Schlosser, Christine Fast, Charlotte Schröder, Elke Lange, Albrecht Gröner, Wolfram Schäfer, Martin H Groschup
BACKGROUND: Hepatitis E virus (HEV) is one major cause of acute clinical hepatitis among humans throughout the world. In industrialized countries an increasing number of autochthonous HEV infections have been identified over the last years triggered by food borne as well as - to a much lower degree - by human to human transmission via blood transfusion. Pigs have been recognised as main reservoir for HEV genotype 3 (HEV-3), and zoonotic transmission to humans through undercooked/raw meat is reported repeatedly...
December 4, 2018: BMC Veterinary Research
Junhua Hu, Zhiyang Nie, Jiwu Gong
OBJECTIVE: To explore serological and molecular characteristics of a family trio with weak B phenotype. METHODS: ABO blood type of the family was determined with a serological method. Genotypes of the ABO gene were determined with PCR-sequence specific primer (PCR-SSP). Sequences of exons 6 and 7 of the ABO gene were analyzed by PCR sequence-based testing. RESULTS: Serologically, the proband and her father were determined as B subtype (Bw), while her mother was of O group...
December 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Marieke J H Coenen, Aimée D C Paulussen, Marc Breuer, Martijn Lindhout, Demis C J Tserpelis, Anja Steyls, Jörgen Bierau, Bianca J C van den Bosch
Objective: Fluoropyrimidine treatment can be optimized based on dihydropyrimidine dehydrogenase (DPD) activity. DPD dysfunction leads to increased exposure to active metabolites, which can result in severe or even fatal toxicity. Methods: We provide an overview of 8 years of DPD diagnostic testing (n = 1194). Results: Within the study period, our diagnostic test evolved from a single-enzyme measurement using first a radiochemical and then a nonradiochemical assay by ultra HPLC-MS in peripheral blood mononuclear cells with uracil, to a combined enzymatic and genetic test (ie, polymerase chain reaction) followed by Sanger sequence analysis of 4 variants of the DPYD gene (ie, DPYD*2A, DPYD*13, c...
2019: Current Therapeutic Research, Clinical and Experimental
Daniel Antonio de Luis, David Primo, Olatz Izaola, Emilia Gomez Hoyos, Juan Jose Lopez Gomez, Ana Ortola, Rocio Aller
OBJECTIVES: The role of ADIPOQ gene variants on weight loss after a dietary intervention remain unclear. The aim of this study was to analyze the effects of rs266729 of the ADIPOQ gene on cardiovascular risk factors and adiposity parameters after adherence to a Mediterranean-type hypocaloric diet. METHOD: Eighty-three obese patients were studied before and after 12 wk on a Mediterranean-type hypocaloric diet. Anthropometric parameters and biochemical profiles were measured...
August 23, 2018: Nutrition
Mariana de Oliveira-Klein, Augusto César Cardoso-Dos-Santos, Alice Tagliani-Ribeiro, Nelson Rosa Fagundes, Ursula Matte, Lavinia Schuler-Faccini
Insulin-like growth factor (IGF-1) is an important peptide hormone involved in the reproduction and fetal development of mammals, and it is suggested that it may influence the human twinning rate. This study aimed to test such possible association, investigating the genetic polymorphisms IGF1 (CA)n and IGFBP3 rs2854744 in the population from Candido Godoi (CG), a small city located in the South of Brazil that has a high prevalence of twin births. A case-control study was performed comprising a total of 39 cases (representing about 40% of the mothers of twins who were born in CG after 1995) and 214 controls (mothers of non-twin children), 97 of whom were living in CG while 117 were living in Porto Alegre...
November 29, 2018: Genetics and Molecular Biology
Haiala S Silva de Oliveira, Aylla N Lima Martins da Silva, Gabriela Barreto Andrade, Karoline Coelho Gaia, Greice de Lemos Cardoso Costa, Ândrea K Campos Ribeiro Dos Santos, João Farias Guerreiro
Glucose-6-phosphate dehydrogenase deficiency (G6PDd) and Duffy-negative blood group are two red blood cells variants that confer protection against malaria. In this study, the distribution of the most common G6PD variants (G6PD*A-, GGPD*A and G6PD Mediterranean) and the major alleles of the Duffy blood group (FY*A, FY*B and FY*BES) were investigated in an Afro-descendant population from state of Pará, Brazilian Amazon. G6PD variants and Duffy blood group alleles were determined by TaqMan SNP genotyping assay...
November 29, 2018: Genetics and Molecular Biology
Maneerat Raksayot, Natthaya Chuaypen, Apichaya Khlaiphuengsin, Nutcha Pinjaroen, Sombat Treeprasertsuk, Yong Poovorawan, Yasuhito Tanaka, Pisit Tangkijvanich
BACKGROUND: This study was aimed at evaluating the association between single nucleotide polymorphisms (SNPs) in the PNPLA3, NCAN, TM6SF2 and MBOAT7 and hepatocellular carcinoma (HCC) development in Thai patients according to underlying etiologies of liver disease. METHODS: These SNPs were determined by allelic discrimination in blood samples of 105 healthy controls and 530 patients with HCC [270 with hepatitis B virus (HBV-HCC), 131 with hepatitis C virus (HCV-HCC), and 129 with non-B, non-C HCC (NBNC-HCC) matched for age and gender]...
November 30, 2018: Journal of Gastroenterology
Helena Marcos-Pasero, Elena Aguilar-Aguilar, Rocío de la Iglesia, Isabel Espinosa-Salinas, Mónica Gómez-Patiño, Gonzalo Colmenarejo, Ana Ramírez de Molina, Guillermo Reglero, Viviana Loria-Kohen
BACKGROUND & AIMS: Calcium and dairy products have multiple health benefits. The objective of this work was to evaluate the association between calcium/dairy intake, blood pressure, the BDNF-AS rs925946 polymorphism and nutritional status in a group of schoolchildren. METHODS: As part of the GENYAL study to childhood obesity prevention, 221 children belonging to different areas of the Community of Madrid were enrolled. Anthropometric and dietary data were collected, and children were genotyped according to the rs925946 polymorphism...
November 20, 2018: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
Hui-Ying Xu, Rui Wang, Chun-Yan Lin, Shi-Fang Yu, Chun-Hua Liu, Zhi-Hua Tao, Zhao-Ping Liao
OBJECTIVE: To investigate the phenotype and genotype of the weak D blood group in one case of Chinese Han people. METHODS: Phenotype of blood sample was identified with serologic tests; PCR-SBT was applied for the analysis of genotype and RhD zygosity. RESULTS: Both saline and gel card tests demonstrated this case to be dCcee, which was contrary to glass bead card result. Some of the RBC D epitopes were negative.c.1022T>A allele was identified with PCR-SBT and the zygosity analysis showed this case to be D/d...
December 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
Zhang-Yuan Yang, You-Shan Zhang, Cai-Xia Liang, Zheng-Ju Zhou
OBJECTIVE: To analyze the relation between the signle nucleotide polymorphisms (SNP) of CYP3A5 gene and MDR1 gene loci and the risk of cytogenetic relapse in chronic myeloid leukemia (CML). METHODS: The clinical data of 90 patients with CML treated with imatinib in our hospital were collected.The patients were divided into 2 groups: non-relapse and relapse according to relapse and non-relapse, then the relation between the SNP of CYP3A5 gene and MRD1 gene loci and the risk of cytogenetic relapse in CML patients...
December 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
Laura Barrado, Columbiana Prieto, Susana Hernando, Lola Folgueira
BACKGROUND: Our study focuses on the role that human Cytomegalovirus (CMV) genotypes play in the development of disease. OBJECTIVES: (1) To analyze the frequency of various genotype envelope proteins (gB, gH) in a group of solid organ transplant (SOT) recipients; (2) to assess their correlation with CMV disease; (3) to study the association between any of the genotypes and viral loads. STUDY DESIGN: A retrospective observational study conducted by analyzing CMV gB and gH genotypes detected with real-time polymerase chain reaction (PCR)-specific assays in 162 CMV-positive blood samples from 62 SOT recipients...
November 13, 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
Jan Portegys, Gabi Rink, Pia Bloos, Erwin A Scharberg, Harald Klüter, Peter Bugert
Background: The provision of compatible blood products to patients is the most essential task of transfusion medicine. Besides ABO and Rh, a number of additional blood group antigens often have to be considered for the blood supply of immunized or chronically transfused patients. It also applies for platelet antigens (HPA) and neutrophil antigens (HNA) for patients receiving platelet or granulocyte concentrates. Here, we describe the molecular screening for a number of blood group, HPA, and HNA alleles...
October 2018: Transfusion Medicine and Hemotherapy
Kimberly S Collins, Victoria M Pratt, Wesley M Stansberry, Elizabeth B Medeiros, Karthik Kannegolla, Marelize Swart, Todd C Skaar, Arlene B Chapman, Brian S Decker, Ranjani N Moorthi, Michael T Eadon
Hypertension and chronic kidney disease are inextricably linked. Hypertension is a well-recognized contributor to chronic kidney disease progression and, in turn, renal disease potentiates hypertension. A generalized approach to drug selection and dosage has not proven effective in managing these conditions, in part, because patients with heterogeneous kidney disease and hypertension etiologies are frequently grouped according to functional or severity classifications. Genetic testing may serve as an important tool in the armamentarium of clinicians who embrace precision medicine...
November 26, 2018: Pharmacogenetics and Genomics
R Yaghobi, F Alizadeh, A Khodavandi
Background: Syndrome of transient bone marrow suppression may result from various extra-hematological diseases, such as immunological deregulations, and viral infectious diseases secondarily affecting the function of hematopoietic stem cells. Objective: To evaluate the pathogenic role of herpes viruses and their contraction with IL10 cytokine gene polymorphism, which can impair hematopoiesis in patients with transient bone marrow suppression. Methods: In a cross-sectional study 30 patients who admitted to Namazi Hospital, affiliated to Shiraz University of Medical Sciences, with transient bone marrow suppression were recruited...
2018: International Journal of Organ Transplantation Medicine
Antony Brayan Campos-Salazar, Fabiana Dalla Vecchia Genvigir, Claudia Rosso Felipe, Helio Tedesco-Silva, José Medina-Pestana, Gabriela Vieira Monteiro, Rodrigo de Gouveia Basso, Alvaro Cerda, Mario Hiroyuki Hirata, Rosario Dominguez Crespo Hirata
Monitoring of immunosuppressive drugs, such as calcineurin and mTOR inhibitors, is essential to avoid undesirable kidney transplant outcomes. Polymorphisms in pharmacokinetics-related genes have been associated with variability in blood levels of immunosuppressive drugs and adverse effects, but influence of pharmacodynamics-related genes remains to be elucidated. The influence of polymorphisms in genes of the mTOR and calcineurin signaling pathways on long-term clinical outcomes was investigated in Brazilian kidney transplant recipients within the 1-year post-transplant...
2018: Frontiers in Pharmacology
Berglind Jonsdottir, Christer Larsson, Markus Lundgren, Anita Ramelius, Ida Jönsson, Helena Elding Larsson
BACKGROUND: The aim was to determine prevalence and age at seroconversion of thyroid autoimmunity in relation to islet autoantibodies, gender and HLA-DQ genotypes in children with increased risk for type 1 diabetes followed from birth. METHODS: In 10-year-old children (n = 1874), blood samples were analysed for autoantibodies against thyroid peroxidase (TPOAb), thyroglobulin (TGAb), glutamic acid decarboxylase 65 (GADA), Zink transporter 8 (ZnT8R/W/QA), insulinoma-associated protein-2 (IA-2A), insulin (IAA) and HLA-DQ genotypes...
August 2018: Autoimmunity
Claudia Cristina Palos, Beatriz Ferreira Timm, Denise de Souza Paulo, Cesar Eduardo Fernandes, Ricardo Peres de Souto, Emerson Oliveira
INTRODUCTION AND HYPOTHESIS: Pelvic organ prolapse has a multifactorial etiology. There is increasing evidence that genetic factors greatly impact its development. This study aimed to evaluate the possible relation of the collagenous polymorphism -1997 G/T with genital prolapse in Brazilian women. METHODS: A cohort study of 180 women with stage 0 or I (group A) pelvic organ prolapse disorder and 112 women with stage III or IV (group B) was conducted. Blood DNA was isolated, and the -1997 G/T polymorphism was identified by amplifying a region of the COLIA1 gene starting prior to the protein's coding sequence...
November 27, 2018: International Urogynecology Journal
B F Zhang, M L Cheng, S Lu, J Wu, Y Y Wu, Q Liu, X K Zhao, Y Y Li, Y X Hu, W Liu
Objective: To investigate whether HBV genotype influences HBV DNA and RNA responses to tenofovir(TDF) and telbivudine(LDT) in pregnant women with HBeAg-positive in Guizhou. Methods: This was a retrospective analysis of 75 pregnant women hepatitis B with HBsAg and HBeAg double-positive(19-38 years old, median age 26 years old), who were enrolled in the Department of Infectious Diseases and Obstetrics Clinic of the Affiliated Hospital of Guizhou Medical University from May 2016 to July 2017.Blood samples were collected at 12-24, 28-32 and 36-40 weeks of pregnancy for analyses of genotype, including hepatitis B surface antigen(HBsAg), hepatitis B e antigen (HBeAg), HBV DNA, HBV RNA and liver function, alanine transaminase(ALT), aspartate transaminase(AST), total bilirubin(TBiL), total bile acids(TBA), cholinesterase(CHE), alkaline phosphatase (ALP)...
November 20, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Itu Singh, Mallika Lavania, Vinay Kumar Pathak, Madhvi Ahuja, Ravindra P Turankar, Vikram Singh, Utpal Sengupta
BACKGROUND: Leprosy is a chronic infectious disease caused by Mycobacterium leprae and mainly affects skin, peripheral nerves. Vitamin D receptor (VDR) gene polymorphism has been found to be associated with leprosy. Vitamin D has been shown to control several host immunomodulating properties through VDR gene. Vitamin D deficiency was also found to be linked to an increased risk for several infections and metabolic diseases. OBJECTIVE: In the present study, we investigated the association of VDR gene polymorphism, mRNA gene expression of VDR and the vitamin D levels with leprosy and its reactional states...
November 27, 2018: PLoS Neglected Tropical Diseases
Corinne H Schut, Abdolvahab Farzan, Margaret H Ainslie-Garcia, Robert M Friendship, Brandon N Lillie
Salmonella is estimated to be one of the leading causes of enteric illness worldwide. Human salmonellosis is most frequently related to contaminated food products, particularly those of animal origin, such as pork. Pigs are often asymptomatic carriers of Salmonella, highlighting the importance of identifying high-prevalence farms and effective detection methods. The objectives of this study were to investigate Salmonella antibody responses and their association with on-farm shedding and Salmonella isolation at slaughter...
November 27, 2018: Foodborne Pathogens and Disease
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