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Journal of Genetics

Milena Diaz Camacho L, Caio Alexandre De Freitas Schatzer, Alessandro Alves-Pereira, Maria Imaculada Zucchi, Angela Maria De Carvalho M, Marília Gaspar
No abstract text is available yet for this article.
September 14, 2017: Journal of Genetics
Wen Song, Dongmei Zhu, Yefeng Lv, Weimin Wang
No abstract text is available yet for this article.
September 10, 2017: Journal of Genetics
Chuankun Zhu, Zhengjun Pan, Hui Wang, Nan Wu, Guoliang Chang, Huaiyu Ding
No abstract text is available yet for this article.
September 4, 2017: Journal of Genetics
Qingpo Chu, Tingting Liang, Lingling Fu, Huizhi Li, Bo Zhou
Aggression is a heritable trait and genetically related to neurotransmitter-related genes. Behavioural characteristics of some pig breeds are different. To compare the genetic differences between breeds, backtest and aggressive behaviour assessments, and genotyped using Sequenom iPLEX platform were performed in 50 Chinese indigenous Mi pigs and 100 landrace-large white (LLW) cross pigs with 32 SNPs localized in 11 neurotransmitter-related genes. The genetic polymorphisms of 26 SNPs had notable differences (P < 0...
September 2017: Journal of Genetics
Andreas Borchel, Marieke Verleih, Alexander Rebl, Tom Goldammer
A rapid decline in temperature poses a major challenge for poikilothermic fish, as their entire metabolism depends on ambient temperature. The gene expression of rainbow trout Oncorhynchus mykiss having undergone such a cold shock (0◦C) was compared to a control (5◦C) in a microarray and quantitative real-time PCR based study. The tissues of gill, kidney and liver were examined. The most differently expressed genes were found in liver, many of them contributing to the network 'cellular compromise, cellular growth and proliferation'...
September 2017: Journal of Genetics
Jing He, Shuwu Qi, Huijun Zhang, Jingjing Guo, Shu Chen, Qi Zhang, Baosheng Zhu
Themutations of androgen receptor (AR) gene are the most common cause for complete androgen insensitivity syndrome (CAIS). We aimed to characterize the six cases enrolled in our hospital (the First People's Hospital of Yunnan, China) and explore the molecular mechanism of CAIS. Between 2010 and 2013, six female cases were enrolled in our hospital for the agenesis of secondary sexual characteristics. The clinical examinations such as sex hormone test and B ultrasound were performed and the genetic characterization of patients were evaluated by karyotype analysis, polymerase chain reaction and DNA sequencing...
September 2017: Journal of Genetics
Yirui Wang, Yimin Sun, Yongqing Huang, Yongchu Pan, Bing Shi, Jian Ma, Lan Ma, Feifei Lan, Yuxi Zhou, Jiayu Shi, Jinfang Zhu, Hongbing Jiang, Lei Zhang, Xue Xiao, Min Jiang, Aihua Yin, Lili Yu, Lin Wang, Jing Cheng, Yinxue Yang
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect due to abnormal orofacial development. Previous studies report abnormal sonic hedgehog (SHH) signalling activity during NSCL/P pathogenesis and propose several genes in the SHH pathway as candidate risk genes. As such, we focussed on GLI3, a downstream modulator of the SHH pathway. In the present study,we genotyped 34 tag SNPs covering GLI3 and performed association analysis with NSCL/P in 504 cases and 455 healthy controls...
September 2017: Journal of Genetics
Jen Bevilacqua, Andrew Hesse, Brian Cormier, Jennifer Davey, Devanshi Patel, Kritika Shankar, Honey V Reddi
Epilepsy is one of the most common neurological disorders with about 500 genes thought to be involved across the phenotypic spectrum (Busch et al. 2014; Ran et al. 2014), which includes monogenic, multigenic, epistatic and pleiotropic phenotype manifestations (Busch et al. 2014; Thomas et al. 2014), driving the need for a comprehensive diagnostic test. Next-generation sequencing (NGS) allows for the simultaneous investigation of a large number of genes, making it a very attractive option for a condition as diverse as epilepsy at a low cost compared to traditional Sanger sequencing (Lemke et al...
September 2017: Journal of Genetics
Jie Wang, Yongsong Hu, Mauricio A Elzo, Yu Shi, Xianbo Jia, Shiyi Chen, Songjia Lai
The objective of this study was to investigate the effect of the polymorphism in the Myf5 gene on meat quality traits in the Ira and Tianfu Black rabbit breeds using polymerase chain reaction and DNA sequencing. A total of six SNPs and four haplotypes were found in Ira rabbits and only two SNPs were found in Tianfu Black rabbits. The two rabbit breeds had intermediate levels of genetic diversity according to their polymorphic information content values. The SNP association analysis in Ira indicated that SNP1-6 had a significant association with redness, yellowness and intramuscular fat values in the biceps femoris muscle, and also a significantly effect on redness in the longissimus dorsi muscle...
September 2017: Journal of Genetics
Diovani Piscor, Liano Centofante, Patricia Pasquali Parise-Maltempi
Genus Astyanax is well distributed in Neotropical freshwater environments and its taxonomic position is uncertain, as is the case with other Characidae genera allocated in the group incertae sedis. This study aimed to analyse the karyotype of different populations of Astyanax fasciatus (Corumbataí River basin) using Giemsa staining, C-band technique, and fluorescence in situ hybridization for the H3 histone and 5S rRNA genes, in addition we describe for the first time the chromosomal organization of H3 histone and 5S rRNAgenes in A...
September 2017: Journal of Genetics
Chuen Yang Chua, Ping Chin Lee, Tiek Ying Lau
The apical membrane antigen-1 (AMA-1) of Plasmodium spp. is a merozoite surface antigen that is essential for the recognition and invasion of erythrocytes. Polymorphisms occurring in this surface antigen will cause major obstacles in developing effective malaria vaccines based on AMA-1. The objective of this study was to characterize ama1 gene in Plasmodium knowlesi isolates from Sabah. DNA was extracted from blood samples collected from Keningau, Kota Kinabalu and Kudat. The Pkama1 gene was amplified using nested PCR and subjected to bidirectional sequencing...
September 2017: Journal of Genetics
Lihua Cao, Chen Chen, Yunji Leng, Lulu Yan, Shusen Wang, Xue Zhang, Yang Luo
Hand-foot-genital syndrome (HFGS) is a rare autosomal dominant inherited syndrome characterized by limb malformations and urogenital defects. HFGS is caused by mutations in the HOXA13 gene. The aim of this study was to identify causative mutations in individuals and to explore the molecular pathogenesis in a Chinese family with HFGS. We performed Sanger sequencing and identified a recurrent missense mutation in the homeodomain (c.1123G>T, p.V375F) of HOXA13, molecular modelling predicted the mutation would affect DNA binding, and a luciferase reporter assay indicated that it impaired the ability of HOXA13 to activate transcription of the human EPHA7 promoter...
September 2017: Journal of Genetics
Asha Abraham, Thomas Naicy, Kunniyoor Cheemani Raghavan, Joseph Siju, Thazhathuveettil Aravindakshan
Paratuberculosis is one of the chronic granulomatous enteritis that predominantly affects ruminants world wide, caused by Mycobacterium avium ssp. paratuberculosis (MAP). In ruminants, microsatellite polymorphisms of the 3' untranslated region (3'UTR) of the solute carrier family 11 member A1 (SLC11A1) gene were associated with resistance to intracellular pathogen infections. This research was carried out to detect the polymorphisms in A and B regions of the 3'UTR of SLC11A1 gene and to evaluate the potential association between these polymorphisms and MAP infection in goats...
September 2017: Journal of Genetics
Siti Maziras Makhtar, Azlan Husin, Abdul Aziz Baba, Ravindran Ankathil
The detoxifying activity of glutathione S-transferases (GST) enzymes not only protect cells from the adverse effects of xenobiotics, but also alters the effectiveness of drugs in cancer cells, resulting in toxicity or drug resistance. In this study, we aimed to evaluate the association of GSTM1, GSTT1 and GSTP1 Ile105Val polymorphisms with treatment response among Malaysian chronic myeloid leukaemia (CML) patients who everyday undergo 400 mg of imatinib mesylate (IM) therapy. Multiplex polymerase chain reaction (multiplex-PCR) was performed to detect GSTM1 and GSTT1 polymorphisms simultaneously and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was conducted to detect the GSTP1 Ile195Val polymorphism...
September 2017: Journal of Genetics
Kavita Krishnamoorti, Arvind Kumar Singh
Esterases are known to play essential role inmetabolism, reproductive physiology and behaviour of Drosophila. Esterases are highly polymorphic enzymes in Drosophila, but the polymorphism of these enzymes is not well studied in Drosophila ananassae. Recent studies on esterase polymorphism in D. ananassae revealed that Est-4 locus comprises Est-4 active and Est-4 null alleles depending on enzymatic activity. For the in vivo functional characterization of this locus, homozygous lines of genotypes Est-4 active and Est-4 null were derived from the flies collected from Gangtok, Sikkim, in 2006...
September 2017: Journal of Genetics
Ngoc Tuan Tran, Ivan Jakovlić, Wei-Min Wang
Smac/DIABLO gene is essential for the apoptosis mechanism in mammals. This study is the first report of the Megalobrama amblycephala (ma) diablo gene, and the first report of the tertiary structure of a Diablo polypeptide in fish. Madiablo is 1540-bp long with an open reading frame of 792 bp, encoding a putative protein of 263 amino acids with a molecular weight of 29.2 kDa. Phylogenetic analysis indicates that it is closely related to the zebrafish Diablo-a homologue. It also indicates the existence of two diablo copies (a and b) in teleosts; apart fromthe Percomorpha group,where diablo-b has been lost, but diablo-a had undergone an independent duplication...
September 2017: Journal of Genetics
Charissa C Naidoo, Manormoney Pillay
While the acquisition of drug resistance is often accompanied by fitness costs, Mycobacterium tuberculosis has developed mechanisms to overcome these costs in the form of compensatory mutations. In an attempt to dissect strain-specific differences in biological fitness, 10 M. tuberculosis genomes, representing F15/LAM4/KZN, Beijing, F11 and F28 genotypes were sequenced on the Illumina MiSeq platform. Drug-susceptible F15/LAM4/KZN strains differed by 43 SNPs, demonstrating that heterogeneity exists even among closely-related strains...
September 2017: Journal of Genetics
Rosalia Di Gerlando, Salvatore Mastrangelo, Lina Tortorici, Marco Tolone, Anna Maria Sutera, Maria Teresa Sardina, Baldassare Portolano
The essential role of the acetyl-CoA carboxylase (ACACA) enzyme in milk fatty acid (FA) synthesis suggests that it may be responsible for the phenotypic variability observed inmilk.Before attempting association analyses between this gene and/or enzyme and phenotypic traits, a study on the genetic variability within this locus is required. The aim of this work was to sequence the entire coding region of ACACA gene in Valle del Belice sheep breed to identify polymorphic sites. A total of 51 coding exons of ACACA gene were sequenced in 32 individuals of Valle del Belice sheep breed...
September 2017: Journal of Genetics
Gilberto Gómez, Sergio Arias, Leonor Cárdenas, Dalal Zoghbi, Irene Paradisi
Gaucher disease (GD), the most frequent lysosomal storage disease, is caused by heterogeneous mutations in the locus coding for glucocerebrosidase (GBA). It is an autosomal recessive disorder with different phenotypes of which the most frequent is the nonneuronopathic or type 1, prevalent worldwide. To date, more than 430 mutations have been described, but their frequency distribution varies in different populations with four, N370S, L444P, IVS2 + 1G > A and 84insG, being the most frequent ones. In Venezuela, 20 unrelated index cases with GD type I were assessed for GBA mutation detection and for their in-phase haplotype identification, to gather genetic epidemiological data on the disease in the country and of its eventual ethnic origin...
September 2017: Journal of Genetics
J B Bizimana, A Luzi-Kihupi, Rosemary W Murori, R K Singh
Salinity is the second most important abiotic stress after drought that hampers rice production, especially in south and Southeast Asia. Breeding approach supplemented with molecularmarkers-assisted selection is the most promising approach in terms of efficiency to increase the productivity under salt-affected soils. Thirty-day-old rice seedlings of 300 F5:6 recombinant-inbred lines derived from a cross between the salt sensitive, IR29 (indica), and a salt tolerant, Hasawi (aus), were used to identify quantitative trait loci (QTLs) linked to salinity tolerance...
September 2017: Journal of Genetics
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