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Biochemical Genetics

Defang Zhang, Tao Xia, Shaofei Dang, Guanghui Fan, Zhanlin Wang
Chinese wolfberry (Lycium spp.) is an important edible and medicinal plant, with a long cultivation history. The genetic relationships among wild Lycium species and landraces have been unclear for a number of reasons, which has hindered the breeding of modern Chinese wolfberry cultivars. In this study, we collected 19 accessions of Chinese wolfberry germplasm, and constructed the genetic relationship based on RAD-seq markers. We obtained 30.32 Gb of clean data, with the average value of each sample being 1...
June 6, 2018: Biochemical Genetics
Monica Szabó, Beáta Máté, Katalin Csép, Theodora Benedek
With the pandemic of type 2 diabetes (T2D), there is an ever-increasing need to fully understand the underlying mechanisms of the disease. Type 2 diabetes shows a high heritability risk (25-80%); however, genes account only for 10% of this risk. From all the risk factors for diabetes, epigenetic mechanisms have the highest statistical scoring in explaining the disease. A multitude of organ-specific epigenomic changes have been linked to type 2 diabetes. Nutritional influences, mainly in the early life, physical activity level, environmental toxins act as epigenetic factors and the recognized epigenetic changes can represent a therapeutical target, new drugs being currently in development for this application...
June 5, 2018: Biochemical Genetics
Yunyun Jin, Qing Yang, Jiayang Gao, Qi Tang, Bo Duan, Ting Yu, Xinglei Qi, Jiming Liu, Rongmin Wang, Ruihua Dang, Chuzhao Lei, Hong Chen, Xianyong Lan
Growth traits are complex quantitative traits controlled by numerous candidate genes, and they can be well-evaluated using body measurement traits. As the members of the nicotinamide adenine dinucleotide-dependent family of histone deacetylases, class I sirtuin genes (including SIRT1, SIRT2 and SIRT3) play crucial roles in regulating lipid metabolism, cellular growth and metabolism, suggesting that they are potential candidate genes affecting body measurement traits in animals. Hence, the objective of this work aimed to detect novel insertions/deletions (indels) of SIRT1, SIRT2 and SIRT3 genes in 955 cattle belonging to five breeds, as well as to evaluate their effects on body measurement traits...
June 4, 2018: Biochemical Genetics
Sara Aghakhani Chegeni, Mahsa Rahimzadeh, Hossein Montazerghaem, Mahmood Khayatian, Farzaneh Dasturian, Nadereh Naderi
Cardiopulmonary bypass-associated acute kidney injury (CPB-AKI) is a well-recognized complication which is clearly linked to increased morbidity and mortality. Due to important role of inflammation in CPB-AKI pathogenesis, we explored the association between polymorphisms in STAT3, an inflammation-associated transcription factor, and the risk of CPB-AKI. In this study, STAT3 rs1053004 and rs744166 polymorphisms were analyzed in 129 patients undergoing coronary artery bypass grafting in Jorjani heart center, Bandar Abbas, Iran...
May 30, 2018: Biochemical Genetics
Marwa Chaouali, Mouna Ben Azaiez, Aymen Tezeghdenti, Awatef Lagha, Basma Yacoubi-Oueslati, Ezzeddine Ghazouani, Hatem Ben Abdallah, Radhia Kochkar
Autoimmune hepatitis (AIH) is a chronic hepatitis of unknown etiology and several proinflammatory cytokines are implicated in its pathogenesis. The association of TNF-α gene polymorphism with AIH onset is not fully elucidated especially in the Tunisian population. The aim of this study was to determine the association of TNF-α (-308 G > A) polymorphism with AIH susceptibility and with TNF-α expression or clinical manifestations of AIH. A total of 50 AIH patients and 150 controls were included. Evaluation of TNF-α polymorphism was performed by ARMS PCR method...
May 29, 2018: Biochemical Genetics
Mir Sadat-Ali, Ibrahim M Al-Habdan, Dalal A Bubshait
Developmental dysplasia of the hip (DDH) is quite common among Saudi Arabian babies. With an objective to assess the presence of SNP rs143383 and the alleles in the GDF5 gene among patients with DDH, parents, and unaffected siblings, we undertook this case-controlled study. We collected and analyzed for a functional single nucleotide polymorphism (SNP) in the 5'-untranslated region of the GDF5 gene (rs143383), 473 blood samples, (100 patients, 200 parents, 73 siblings and 100 healthy controls. We determined the association between the patients' genotype and their fathers', mothers' and siblings' genotype through Chi-square analysis...
May 23, 2018: Biochemical Genetics
Da Xu, Cui Zhang, Junliang Li, Guannan Wang, Weina Chen, Dongjie Li, Shijie Li
Imprinted genes are characterized by monoallelic expression that is dependent on parental origin. Comparative analysis of imprinted genes between species is a powerful tool for understanding the biological significance of genomic imprinting. The slc38a4 gene encodes a neutral amino acid transporter and is identified as imprinted in mice. In this study, the imprinting status of SLC38A4 was assessed in bovine adult tissues and placenta using a polymorphism-based approach. Results indicate that SLC38A4 is not imprinted in eight adult bovine tissues including heart, liver, spleen, lung, kidney, muscle, fat, and brain...
May 21, 2018: Biochemical Genetics
Chaoying Zhu, Peng Chen, Yuqing Han, Luzhang Ruan
The Ruddy-breasted Crake (Porzana fusca) is an extremely poorly known species. Although it is not listed as globally endangered, in recent years, with the interference of climate change and human activities, its habitat is rapidly disappearing and its populations have been shrinking. There are two different life history traits for Ruddy-breasted Crake in China, i.e., non-migratory population in the south and migratory population in the north of China. In this study, mitochondrial control sequences and microsatellite datasets of 88 individuals sampled from 8 sites were applied to analyze their genetic diversity, genetic differentiation, and genetic structure...
May 12, 2018: Biochemical Genetics
Kumiko Asai, Masaharu Hisasue, Fumie Shimokawa, Masayuki Funaba, Masaru Murakami
With longevity, the prevalence of osteoporosis, which occurs when the activity of osteoclast surpasses that of osteoblasts, has increased in dogs. However, limited information is available on canine osteoclastogenesis. We herein described culture conditions to induce osteoclasts from canine bone marrow cells, and identified factors affecting canine osteoclastogenesis. Tartrate-resistant acid phosphatase-positive multinucleated cells were efficiently formed in a culture of bone marrow mononuclear cells with macrophage colony-stimulating factor (M-CSF 25 ng/mL) for 3 days and a subsequent culture in the presence of M-CSF (25 ng/mL) and soluble receptor activator of NF-κB ligand (RANKL 50 ng/mL) for 4 days...
April 21, 2018: Biochemical Genetics
Kristel Klaassen, Maja Djordjevic, Anita Skakic, Lourdes R Desviat, Sonja Pavlovic, Belen Perez, Maja Stojiljkovic
Treatment with tetrahydrobiopterin (BH4) is the latest therapeutic option approved for patients with phenylketonuria (PKU)-one of the most frequent inborn metabolic diseases. PKU or phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene. Given that some PAH mutations are responsive to BH4 treatment while others are non-responsive, for every novel mutation that is discovered it is essential to confirm its pathogenic effect and to assess its responsiveness to a BH4 treatment in vitro, before the drug is administered to patients...
April 13, 2018: Biochemical Genetics
Shahriar Tarighi, Behnam Alipoor, Ali Zare, Hamid Ghaedi, Mehrnoosh Shanaki
Recent genome-wide association studies (GWAS) identified a list of single-nucleotide polymorphisms (SNPs) associated with coronary artery disease (CAD). Replication of GWAS findings in different population corroborated the observed association in the parent GWAS. In this study, we aimed to replicate the association of rs1870634, a GWAS identified SNP, to CAD in an Iranian population. The study population consisted of 267 subjects undergoing coronary angiography coronary angiography including 155 CAD patients and 112 non-CAD age- and gender-matched controls...
April 13, 2018: Biochemical Genetics
Bijan Keikhaei, Pejman Slehi-Fard, Gholamreza Shariati, Abbas Khosravi
Alpha thalassemia is the most prevalent monogenic gene disorder in the world, especially in Mediterranean countries. In the current hematological phenotype of patients with different genotypes, the effects of missense mutations on the protein function and also stability were evaluated in a large cohort study. A total of 1,560 subjects were enrolled in the study and divided into two groups: 259 normal subjects; and 1301 alpha-thalassemia carriers. Genomic DNA was extracted and analyzed using ARMS PCR, Multiplex Gap, and direct sequencing...
April 7, 2018: Biochemical Genetics
Ravi Padma-Malini, Chinniah Rathika, Sivanadham Ramgopal, Vijayan Murali, Pannerselvam Dharmarajan, Subramanian Pushkala, Karuppiah Balakrishnan
The aim of present study was to elucidate the association of CTLA4 +49 A/G and HLA-DRB1*/DQB1* gene polymorphism in south Indian T1DM patients. The patients and controls (n = 196 each) were enrolled for CTLA4 and HLA-DRB1*/DQB1* genotyping by RFLP/PCR-SSP methods. The increased frequencies of CTLA4 'AG' (OR = 1.99; p = 0.001), 'GG' (OR = 3.94; p = 0.001) genotypes, and 'G' allele (OR = 2.42; p = 9.26 × 10-8 ) were observed in patients. Reduced frequencies of 'AA' (OR = 0...
March 30, 2018: Biochemical Genetics
Mohamed Moustafa Rizk, Eman Tayae Elsayed, Ahmed Fathi ElKeraie, Ireny Ramzy
Lupus nephritis (LN) is a major cause of morbidity and mortality in systemic lupus erythematosus (SLE). Previous studies suggest that mutant A20 binding inhibitor of NF-κB 1 (ABIN1) protein encoded by tumor necrosis factor alpha-induced protein 3 interacting protein 1 (TNIP1) gene is associated with LN via NF-κB dysregulation. The aim of the current study was to evaluate the association of TNIP1 gene SNP rs7708392 with SLE and LN in Egyptian patients. 5' nuclease Allelic discrimination was used to evaluate the frequency of TNIP1 SNP rs7708392 in 53 patients with LN, 57 SLE patients without nephritis and 85 healthy controls...
March 27, 2018: Biochemical Genetics
Kateryna Kotsarenko, Valentyna Lylo, Tetiana Ruban, Larysa Macewicz, Lyubov Lukash
The inducible repair enzyme O6 -methylguanine-DNA methyltransferase (MGMT) eliminates O6 -methylguanine adducts in DNA and protects the cells from damaging effects of alkylating agents. We have found that anti-MGMT antibodies recognize both the MGMT protein with a mol. weight ~ 24 kDa and a protein with a mol. weight ~ 48 kDa, which was named MARP (anti-methyltransferase antibody recognizable protein). A number of growth factors and cytokines were shown to regulate the expression of MGMT and MARP proteins...
March 27, 2018: Biochemical Genetics
Jiawei Xu, Teng Wang, Zhiyang Su, Xinyao Zhou, Yuqian Xiang, Lin He, Candong Li, Zhaoyang Yang, Xinzhi Zhao
The μ-opioid receptor (OPRM1) plays an important role in opiate addiction. The OPRM1 gene promoter showed hypermethylation in lymphocytes of opiate addicts as well as opioid medications users, while the methylation status displayed ethnic diversity. The purpose of the study was to investigate the methylation pattern of OPRM1 promoter in the Han Chinese population. We analyzed 22 CpG sites located in OPRM1 promoter in 186 former opiate addicts (94 males and 92 females) and 184 healthy controls (102 males and 82 females)...
March 21, 2018: Biochemical Genetics
Luís Silva
No abstract text is available yet for this article.
April 2018: Biochemical Genetics
Niraj Singh, Ashish K Pal, R K Roy, S K Tewari, Sushma Tamta, T S Rana
Estimation of variability and genetic relationships among breeding materials is one of the important strategies in crop improvement programs. Morphological (plant height, spike length, a number of florets/spike), physiological (chlorophyll content, chlorophyll fluorescence, and rapid light curve parameters) and Directed amplification of minisatellite DNA (DAMD) markers were used to investigate the relationships among 50 Gladiolus cultivars. Cluster analysis based on morphological data, physiological characteristics, molecular markers, and cumulative data discriminated all cultivars into seven, five, seven, and six clusters in the unweighted pair-group method using arithmetic mean (UPGMA) dendrogram, respectively...
April 2018: Biochemical Genetics
Talaat Dabbaghi Ghaleh, Somayeh Saadat Skandari, Reza Najafipour, Zahra Rashvand, Masoud Darabi, Mehdi Sahmani
Ghrelin hormone has an important role in a wide range of metabolic and non-metabolic processes. Polymorphisms of ghrelin gene could be associated with a large number of diseases. The aim of this study was to evaluate the association of -604G/A and -501A/C polymorphisms in ghrelin and obestatin prepropeptide gene (GHRL) with polycystic ovary syndrome (PCOS) in a sample of Iranian women. One hundred and fifty-two women with PCOS and 162 age-matched apparently healthy women as control group were enrolled in this study...
April 2018: Biochemical Genetics
Fateha Irshad, Zahid Mushtaq, Shakeel Akhtar
Bacillus strains have been widely used for the production of fibrinolytic enzymes having role in the treatment of cardiovascular disorders. Purification and overproduction of such enzymes has increased their usage in medical fields including metalloproteinases with the ability to degrade extracellular matrix (ECM). Camelysin, a neutral metalloproteinase has been isolated from different species of bacteria like Bacillus cereus, Bacillus anthracis, and Bacillus thuringiensis with fibrinolytic, collagenolytic and actin degradation activity...
April 2018: Biochemical Genetics
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