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Biochemical Genetics

Kyung-Hui Moon
Periodontitis has been reported to relate to metabolic syndrome traits such as obesity, blood pressure, and so on. However, the relation between periodontitis and metabolic syndrome remains unclear. The present study aimed to confirm common genetic factors between periodontitis and metabolic traits using Candidate gene association study (CGAS) in the Korean population. Based on the analysis of CGAS, this study performed linear regression analyses to examine the single-nucleotide polymorphisms (SNPs) between periodontitis and metabolic syndrome traits...
December 13, 2018: Biochemical Genetics
Seyede Zahra Nazari Mehrabani, Mohammad Hossein Shushizadeh, Mohammad Foad Abazari, Maryam Nouri Aleagha, Abbas Ardalan, Rasoul Abdollahzadeh, Asaad Azarnezhad
Multiple sclerosis (MS) is the most common inflammatory and chronic disease of the central nervous system (CNS). A complex interaction between genetic, environmental, and epigenetic factors is involved in the pathogenesis of MS. With the advancement of GWAS, various variants associated with MS have been identified. This study aimed to evaluate the association of single-nucleotide polymorphisms (SNPs) rs4925166 and rs1979277 in the SHMT1, MAZ rs34286592, ERG rs2836425, and L3MBTL3 rs4364506 with MS. In this case-control study, the association of five SNPs in SHMT1, MAZ, ERG, and L3MBTL3 genes with relapsing-remitting MS (RR-MS) was investigated in 190 patients and 200 healthy individuals...
November 19, 2018: Biochemical Genetics
Melike Bakır, Abdullah Kahraman
Simple sequence repeat (SSR) markers are the major molecular tools for genetic and genomic researches that have been extensively developed and used in major crops. However, few are available for lentils (Lens culinaris M.), economically an important cool-season legume. The lack of informative simple sequence repeat (SSR) markers in lentil has been a major limitation for lentil molecular breeding studies. Therefore, in order to develop SSR markers for lentil, an enriched genomic libraries for AC and AG repeats were constructed from the Lens culinaris cv Kafkas...
November 8, 2018: Biochemical Genetics
Yuh-Wen Chiu, Ye-Chen Gan, Po-Hsun Kuo, Kui-Ching Hsu, Mian-Shin Tan, Yu-Min Ju, Hung-Du Lin
According to geological history, Peninsular Malaysia and Borneo formed at different times and were once connected during Quaternary glaciations. To determine how this history has influenced phylogeography, our study examined the population genetic structure of the tropical freshwater gastropod Melanoides tuberculata across Peninsular Malaysia and Borneo using the sequences from mitochondrial DNA 16S rRNA and cytochrome oxidase subunit I genes (1168 bp). In total, 104 specimens were collected from seventeen populations...
October 26, 2018: Biochemical Genetics
Alfredo Vázquez-Ovando, Héctor Escalona-Buendía, Isidro Ovando-Medina, Miguel Salvador-Figueroa
The sensory properties of cacao beans are linked to the chemical composition of the seeds, and both characteristics are the partial results of its allelic composition. Therefore, it is useful to search for molecular markers associated with these traits. We perform multiple regression analysis to associate previously generated data of alleles generated with 12 SSR (of cultivated cacao trees) with data obtained from chemical and sensory characterization (of beans) of plants grown in the southern region from Mexico...
October 3, 2018: Biochemical Genetics
Ergün Sönmezgöz, Samet Özer, Ali Gül, Resul Yılmaz, Tuba Kasap, Şahin Takcı, Rüveyda Gümüşer, Osman Demir
The present study examined the relationship between clinical findings and mutation analyses in children with Familial Mediterranean Fever (FMF) in the inner Black Sea region of Turkey. This retrospective, cross-sectional study included patients with FMF who were evaluated between 2007 and 2015. FMF was diagnosed according to the Tel Hashomer criteria. FMF mutations were analyzed using a Real-time PCR System (Roche Diagnostics, Mannheim, Germany), and patients were classified into three groups according to allele status...
October 3, 2018: Biochemical Genetics
Mi Su, Yan Jun Si, Qi Wei Guo, Mei Yang, Xu Chen, Jia Lin, Ding Zhi Fang
Posttraumatic stress disorder (PTSD) and growth hormone secretagogue receptor (GHSR) were reported to be associated with plasma lipid and glucose levels. However, interplays of PTSD with GHSR on plasma lipid and glucose levels have not been explored yet. This study was to investigate the interplays of PTSD and GHSR rs495225 on plasma glucose and lipid profiles. A total of 709 high school students were recruited at 6 months after the 2008 Wenchuan earthquake. Variants of GHSR rs495225 were identified by polymerase chain reaction-restriction fragment length polymorphism analyses and verified by DNA sequencing...
September 29, 2018: Biochemical Genetics
Muhammad Amjad Nawaz, Xiao Lin, Ting-Fung Chan, Muhammad Imtiaz, Hafiz Mamoon Rehman, Muhammad Amjad Ali, Faheem Shehzad Baloch, Rana Muhammad Atif, Seung Hwan Yang, Gyuhwa Chung
Cellulose synthase A (CESA) is a key enzyme involved in the complex process of plant cell wall biosynthesis, and it remains a productive subject for research. We employed systems biology approaches to explore structural diversity of eudicot CESAs by exon-intron organization, mode of duplication, synteny, and splice site analyses. Using a combined phylogenetics and comparative genomics approach coupled with co-expression networks we reconciled the evolution of cellulose synthase gene family in eudicots and found that the basic forms of CESA proteins are retained in angiosperms...
September 28, 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...
December 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...
December 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...
December 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...
December 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...
December 2018: Biochemical Genetics
Chenggui Miao, Zhongwen Xie, Jun Chang
The original version of this article unfortunately contained an error in the Acknowledgement section. The corrected text has been given below.
October 2018: Biochemical Genetics
Chenggui Miao, Zhongwen Xie, Jun Chang
In this review, we summarize the current understanding of microRNA (miRNA)-mediated modulation of the gene expression in the fatty liver as well as related signaling pathways. Because of the breadth and diversity of miRNAs, miRNAs may have a very wide variety of biological functions, and much evidence has confirmed that miRNAs are involved in the pathogenesis of fatty liver. In the pathophysiological mechanism of fatty liver, miRNAs may be regulated by upstream regulators, and have their own regulatory targets...
October 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...
October 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...
October 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...
October 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...
October 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...
October 2018: Biochemical Genetics
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