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Genotyping blood Group

Leizhen Duan, Zonggui Xue, Huanwen Ji, Dongdong Zhang, Yan Wang
BACKGROUND AND OBJECTIVE: CYP2R1 is a key gene in the vitamin D metabolic pathway. It has been suggested that CYP2R1 gene variants in European populations are associated with concentrations of 25(OH)D, a biomarker of vitamin D levels and status in peripheral blood. However, a comprehensive meta-analysis of this effect including different ethnicities has never been conducted. The objective of this meta-analysis was to evaluate the association between CYP2R1 gene variants and 25(OH)D levels and vitamin D status...
August 15, 2018: Gene
Mohammad Rafiul Hoque, Mohammed Mohieldien Abbas Elfaki, Md Atique Ahmed, Seong-Kyun Lee, Fauzi Muh, Musab M Ali Albsheer, Muzamil Mahdi Abdel Hamid, Eun-Taek Han
BACKGROUND: Vivax malaria is a leading public health concern worldwide. Due to the high prevalence of Duffy-negative blood group population, Plasmodium vivax in Africa historically is less attributable and remains a neglected disease. The interaction between Duffy binding protein and its cognate receptor, Duffy antigen receptor for chemokine plays a key role in the invasion of red blood cells and serves as a novel vaccine candidate against P. vivax. However, the polymorphic nature of P...
August 17, 2018: Malaria Journal
Lu Yang, Yang Yu, Chunya Ma, Hongye Wang, Jiayu Dai, Hu Duan, Zhonglin Fu, Ping Wu, Deqing Wang, Xiaobo Yu
Antibody reagents have been remained as a standard approach to characterize blood group (BG) antigens in clinic. The specificity and cross-reactivity of these BG antibodies are routine detected using the gel microcolumn assay (GMA). However, the GMA is neither specific nor sensitive, thus increasing the risk of improperly-matched RBC transfusions. In this work, we describe a bead-based RBC membrane antigen array to detect BG antibody-antigen binding with ~700-fold higher sensitivity and dynamic range than the GMA...
August 16, 2018: Journal of Proteome Research
Jian-Liang Pan, Jin Gao, Jian-Hua Hou, De-Zhong Hu, Lin Li
BACKGROUND Various studies have highlighted the link between polymorphisms in the XRCC1 gene (encoding X-ray repair cross-complementing group 1) with the incidence of decreased DNA repair capacity and an increased predisposition to cancer. Catechol-O-methyltransferase (COMT) plays a crucial role in estrogen-induced cancers. In the present study was analyzed the potential influence of XRCC1 and COMT gene polymorphisms as predisposing factors from a lung cancer perspective, in addition to conducting an investigation into their interaction with environmental risk factors in relation to lung cancer among non-smoking Chinese women...
August 15, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Falastin Salami, Hye-Seung Lee, Eva Freyhult, Helena Elding Larsson, Åke Lernmark, Carina Törn
Islet autoantibodies (IA) precede the clinical onset of type 1 diabetes (T1D), however, the knowledge is limited whether the prodrome affects complete blood counts (CBC) in 4-12 years old children with increased genetic risk for T1D. The aim of this study was to test if CBC was altered in 4-12 years old children without (n=376) or with one or several IA against either insulin, GAD65 or IA-2 (n=72). CBC was analyzed during longitudinal follow up in 448 Swedish children enrolled in The Environmental Determinants of Diabetes in the Young (TEDDY) study...
August 13, 2018: Diabetes
Sirisha Pemmaraju, Lingaiah Amidyala, Ravindra Vottery, Pratibha Nallari, Jyothy Akka, Venkateshwari Ananthapur
BACKGROUND: Ovarian cancer is the most common cancer among women worldwide. Estrogen plays an important role in follicle formation and maturation of oocyte via its receptor (ER). It has a special interest as their protein levels are always elevated in premalignant and malignant cancer cells and are over expressed in different tumors with a favourable prognosis. The present study is aimed to evaluate the role of ER-α gene ( rs2234693) PVUII polymorphism in the etiology of ovarian cancer...
2018: Cancer Treatment and Research Communications
Sofia Shaikh, Jessica L Waxler, Hang Lee, Kathy Grinke, Jamie Garry, Barbara R Pober, Takara L Stanley
OBJECTIVE: We assessed body composition, bone mineral density (BMD), glucose, and lipids in Williams syndrome (WS), a rare microdeletion disorder. DESIGN: Individuals with WS had outpatient assessment at Massachusetts General Hospital. Controls were selected from the National Health and Nutrition Examination Survey (NHANES 2005-2006). PATIENTS: 22 individuals with WS, each matched by age, sex, and race to 4 NHANES controls. MEASUREMENTS: Blood sampling, oral glucose tolerance test, dual energy x-ray absorptiometry (DXA) scan...
August 12, 2018: Clinical Endocrinology
Irina V Marchenko, Yevhen I Dubovyk, Olha I Matlai, Antonina A Biesiedina, Polina V Kniazkova, Yelizaveta A Harbuzova
OBJECTIVE: Introduction: More than 100 genes have been described associations between single nucleotide polymorphisms and type 2 diabetes mellitus (T2DM). Among these candidate genes, Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1), is located on the long arm of chromosome 6 (6q23.2) and encodes for a protein which is one of the factors determining the insulin sensitivity. An allelic polymorphism in exon 4 of ENPP1 (rs1044498) has been designated K121Q and widely investigated in T2DM in different populations...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Jie Li, Zhuanzhuan Li, Jicai Zhang
OBJECTIVE: To assess the association of methylenetetrahydrofolate reductase (MTHFR) gene 677C to T polymorphism with blood homocysteine (Hcy) level among women of childbearing age from Shiyan area. METHODS: PCR-chip hybridization was used to determine the genotype of MTHFR 677C to T, and a biochemical assay was used to determine the total Hcy level among 428 healthy women of childbearing age. Association of MTHFR 677C to T with total Hcy level was assessed. RESULTS: Heterozygous CT mutation was most common form for the MTHFR 677C to T polymorphisms and amounted for 49...
August 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Xiaoye Li, Zi Wang, Qibing Wang, Qing Xu, Qianzhou Lv
Acute coronary syndrome (ACS) has become a vital disease with high mortality worldwide. A combined anti-platelet therapy (aspirin and a P2Y12 antagonist) is commonly used to prevent re-infarction in ACS patients who have undergone percutaneous coronary intervention (PCI). Clopidogrel, a P2Y12 antagonist, plays an important role in the inhibition of platelet aggregation (IPA). However, it is a pro-drug requiring bio-transformation by cytochrome P450 (CYP450). The aim of this study is to unravel the effect of clopidogrel-associated genetic variants on inhibition of platelet activity and clinical outcomes in ACS patients...
August 11, 2018: Basic & Clinical Pharmacology & Toxicology
Melissa E Day, Mark Rodeghier, Michael R DeBaun
BACKGROUND: Based on the presumed clinical similarity between the two most severe sickle cell disease (SCD) genotypes, hemoglobin (Hb) Sβ0 thalassemia and HbSS, randomized controlled trials (RCTs) have included both genotypes. Our group has demonstrated that healthcare providers inadequately distinguish the two diagnoses through clinical and laboratory parameters. PROCEDURE: In a retrospective cohort study utilizing data from the Silent Cerebral Infarct Transfusion trial (NCT00072761), we tested the hypothesis that children with genotypic diagnoses of HbSβ0 thalassemia, when compared to HbSS, have significantly different rates of SCD comorbidities...
August 9, 2018: Pediatric Blood & Cancer
Stéphanie A Boccoz, Julien Fouret, Magali Roche, Joël Lachuer, Catherine Legras-Lachuer, Benjamin P Corgier, Christophe A Marquette
OBJECTIVES: Thirty-six blood group systems are listed by the International Society of Blood Transfusion, containing almost 350 antigens. Most of these result from a single nucleotide polymorphism (SNP). Serology is the standard method for blood group typing. However, this technique has some limitations and cannot respond to the growing demand of blood product typing for a large number of antigens. Here we describe a blood group genotyping assay directly from whole blood samples using Next-Generation Sequencing (NGS), allowing the simultaneous identification of 15 SNPs associated with the blood group systems of 95 patients in a single run...
August 6, 2018: Clinical Biochemistry
Roya Kahyesh-Esfandiary, Zohreh-Azita Sadigh, Maryam Esghaei, Mohammad-Navid Bastani, Tahereh Donyavi, Alireza Najafi, Atousa Fakhim, Farah Bokharaei-Salim
Beta (β) thalassemia major is a genetic blood disorder with deficiency in the haemoglobin beta chain, requiring blood transfusion therapy. Multiple blood transfusions increase the risk of transmitting blood-borne infections. The aim of this study is to determine the frequency of HCV infection in Iranian individuals with β-thalassemia major. A total of 164 patients with β-thalassemia major were recruited for this study. HCV RNA testing was done on plasma and PBMC from the HCV seropositive samples (with RT-nested PCR method using primers from the 5'-UTR), and all HCV RNA positive samples were genotyped by RFLP assay...
August 9, 2018: Journal of Medical Virology
Chidiebere C Eluke, Blessing C Eluke, Ndidiamaka I Okereke, Chukwugozie Okwuosa, Silas Ufelle
Ahaptoglobinaemia have been indicated in blacks from West Africa. Owing to the clinical and biologicimportance of haptoglobin (hpt), this work explores the situation in a Nigerian cohort since there are no published values ofhaptoglobin levels of individuals in this locality. The study was aimed at determining the amount of haptoglobin in the bloodof normal healthy Nigerians. Haptoglobin was quantitatively estimated in one hundred and fifty-two apparently healthyindividuals using highly sensitive immunoassay technology...
June 30, 2018: Nigerian Journal of Physiological Sciences: Official Publication of the Physiological Society of Nigeria
André Flores-Bello, David Mas-Ponte, Miruna E Rosu, Elena Bosch, Francesc Calafell, David Comas
Basques show specific cultural, demographic, and genetic characteristics that have placed them as an isolated and unique population within Europe, such as their non-Indo-European language, Euskara. They have historically lived along the Western Pyrenees, between Spain and France, in one of the most important European glacial refugia during the Last Glacial Maximum. The most striking genetic characteristic is their highest frequency of the RhD blood group negative allele, a variant related to the hemolytic disease of the newborn...
August 8, 2018: European Journal of Human Genetics: EJHG
Yong Wook Jung, Eun Hee Ahn, Jung Oh Kim, Hui Jeong An, Sung Hwan Cho, Young Ran Kim, Woo Sik Lee, Nam Keun Kim
BACKGROUND: The study was performed to investigate whether genetic variants of VEGF are associated with recurrent pregnancy loss (RPL) in Korean women and to provide insight into the role of VEGF in the pathogenesis of RPL development. METHODS: A cohort of 384 women with idiopathic RPL with a history of two or more uxexplained consecutive early pregnancy losses and 236 control women were recruited from an infertility center of university-teaching hospital in Korea between March 1999 and February 2010...
August 8, 2018: Journal of Gene Medicine
Serkan Kitis, Zeynep Mine Coskun, Pelin Tasdemir, Ebru Tuncez, Ayse Gul Zamani, Aynur Acar
Intervertebral disc degeneration (IVDD) is a common degenerative spinal condition. Recent studies have shown that the incidence of disc herniation and disc degeneration may be explained by genetic factors.  In this study, we investigated the link between various polymorphic variants of the vitamin D receptor (VDR), matrix metalloproteinase 2 (MMP2), and insulin like growth factor 1 receptor (IGF1R) genes and IVDD in patients with IVDD, in Turkey. We examined and genotyped 199 patients with IVDD and 197 healthy individuals...
July 30, 2018: Cellular and Molecular Biology
Peter Arend
The metabolic relationship between the formation of the ABO(H) blood group phenotype and human fertility is evident in the case of the (Oh) or Bombay blood type, which Charles Darwin would have interpreted as resulting from reduced male fertility in consanguinities, based on the history of his own family, the Darwin/Wedgwood Dynasty. The classic Bombay type occurs with the extremely rare, human-specific genotype (h/h; se/se), which (due to point mutations) does not encode fucosyltransferases 1(FUT1) and 2 (FUT2)...
July 21, 2018: Immunobiology
Kaibing Tian, Liang Wang, Ke Wang, Junpeng Ma, Da Li, Yang Yang, Guijun Jia, Zhen Wu, Liwei Zhang, Junting Zhang
Although LGALS3 has been widely studied, the genotypes of the LGALS3 single nucleotide polymorphism (SNP) loci in skull base chordoma (SBC) have been not well defined. The aim of the current study was to analyze two LGALS3 SNP genotypes in patients with SBC. A total of 48 patients with SBC who underwent surgical treatment in Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University (Beijing, China) and 66 healthy participants were included in the present study. A total of two SNPs (LGALS3+191 C>A and LGALS3 +292 A>C) were selected for sequencing analysis of amplified target fragments from DNA that was extracted from blood samples...
July 2018: Oncology Letters
Chih-Chun Yeh, Ching-Jin Chang, Yuh-Ching Twu, Chen-Chung Chu, Bi-Shan Liu, Ji-Ting Huang, Shu-Ting Hung, Yung-Syu Chan, Yi-Jui Tsai, Sheng-Wei Lin, Marie Lin, Lung-Chih Yu
The Xga and CD99 antigens of the human Xg blood group system show a unique and sex-specific phenotypic relationship. The phenotypic relationship is believed to result from transcriptional coregulation of the XG and CD99 genes, which span the pseudoautosomal boundary of the X and Y chromosomes. However, the molecular genetic background responsible for these blood groups has remained undetermined. During the present investigation, we initially conducted a pilot study aimed at individuals with different Xga /CD99 phenotypes; this used targeted next-generation sequencing of the genomic areas relevant to XG and CD99 This was followed by a large-scale association study that demonstrated a definite association between a single nucleotide polymorphism (SNP) rs311103 and the Xga /CD99 blood groups...
August 14, 2018: Blood Advances
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