American Journal of Genetics


PRADER WILLI SYNDROME: A LITERATURE REVIEW

Review  Article of American Journal of Genetics PRADER WILLI SYNDROME: A LITERATURE REVIEW Marianne Pereira de Moura¹, Bárbara Catariny Santos Mourelhe¹*, Bruna de Carvalho da Costa Pereira¹, Bruna Gusmão Cabral de Mello¹; Melissa Lessa Kabbaz Asfora¹, Evandro Valentim da Silva² 1Graduandos em Odontologia pela Universidade Federal de Pernambuc ² Biólogo e Cirurgião-Dentista com mestrado e doutorado em Ciências Farmacêuticas Objective: To review articles and case reports on Prader-Willi Syndrome, observing its characteristics and relating its treatment to the various fields of health. Methodology: As a result of articles found in the following databases: PubMed, MedLine, SciELO and European journal of human genetic Results: SPW can be diagnosed in the neonatal period through genetic studies or physical characteristics, it is a disease that has no cure, but can be treated, preferably early, to ensure the greatest comfort to the patient during his life. Conclusion: Because it is a syndrome that affects the patient in behavioral, structural and intellectual environments, act jointly to ensure the well being of the individual with SPW. Keywords: Prader-Willi syndrome, multidisciplinary treatment, genetic disease ...

Patulin Induced Dominant Lethal Gene in Mature Male and/or Female Rats

Research Article of American Journal of Genetics Patulin Induced Dominant Lethal Gene in Mature Male and/or Female Rats Fawzyea abdelhady zaied1; Mohamed Abd Elsalam Rashed2; Sabha Elsayed Elballat1*and Hassanat Elsayed Ali1 1Zoology Department, Faculty of Science, Zagazig University, Zagazig, Egypt. 2Genetic Department, Faculty of Agriculture , Ain Shames Univeristy, Cairo, Egypt. Many fungi including Penicillium and Aspergillus species produces patulin in the contaminated foods. Patulin is a heterocyclic unsaturated lactone that reacts with SH group of biological molecules causing harmful effects in human and animal tissues. Hence, the present investigation was designed to evaluate the possible teratogenic effect of patulin (0.002mg/kg b. wt) which was examined through the induction of dominant lethal gene and the alteration in number of live births in the female rats . Results and Conclusion: patulin is a dangerous teratogen in rats. This was confirmed by the significant increase in the percentage of maternal and embryo toxicities. Keywords: Patulin, Pregnant rats; Dominant lethal gene ; Mycotoxins; Fetal resorption ;Defective embryo; Teratogenicity ...

Selection of Reference Genes in Vitis Vinifera Inoculated With Xanthomonas Campestris

Review Article of American Journal of Genetics Selection of Reference Genes in Vitis Vinifera Inoculated With Xanthomonas Campestris Silva, J.B.1, Oliveira Silva, R.L.O2, Araújo, A.C.C3, Oliveira, M.F4, Moura, M.T5, Benko-Iseppon, A.M6 1,3,4 Mestranda do Programa de Pós-Graduação em Ciências Biológicas – UFPE; 2Pós-Doutoranda do Departamento de Ciências Biológicas da UFPE, 5Pós-Doutorando do Departamento de Ciências Veterinárias da UFRPE, 6Docente/Pesquisadora do Departamento de Genética da UFPE Introduction: The selection of reference genes (RGs) is considered as one of the most critical steps for RT-qPCR since these genes must show stable expression under varying experimental conditions, cell types, and developmental stages, among other factors. Despite the fact that there are publications for this topic in the grapevine, the majority of them are based on cultivars infected by fungi or subject to abiotic stress. To our knowledge, there is no study investigating the selection of RGs in vine affected by X. campestris. Objective: To select for suitable RGs for gene expression normalization of RNA-Seq expression data from two V. vinifera cultivars with contrasting phenotypes for resistance to this pathogen. Methodology: A search in the literature for publications that selected explicitly for RGs in grapevine was performed, further including those articles using conditions of biotic (preferentially) or abiotic stress. After an initial prospection, the retrieved primers sequences were evaluated by an in silico PCR assay using the Primer-BLAST software at NCBI aiming to align the sequences in the V. vinifera genome and its specific amplification, thus confirming, therefore, gene annotation. Finally, the RGs were tested by both conventional PCR and RT-qPCR and using a negative control (NTC) reaction each tested primer pair. Results and Discussion: From 14 RGs selected, nine (CYP, VATP16, EF1α, TRU5, TCPB, TIF-GTP, GAPDH, ACT, and 60SRP) met the criteria all the criteria described above and its sequences were sent for primer ...

Main Differences Between Diabetes Mellitus Types 1 and 2 in Relation to Genetic Factors

Review Article of American Journal of Genetics Main Differences Between Diabetes Mellitus Types 1 and 2 in Relation to Genetic Factors Silva F.F.L.1; Silva K.S.2 1Biólogo – UFPE; Cursando Especialização em Genética e Biologia Molecular Humana – UFPE; 2Enfermeira – UFPE. Especialista em Educação (UFPE) e Enfermagem do Trabalho (JOAQUIM NABUCO). Introduction:Diabetes mellitus type 1 (DM1) and 2 (DM2), are responsible for more than 95% of the world cases. Being autoimmune DM1, characterized by the destruction of the pancreatic beta cells through the lymphocytes of the body, multifactorial and dependent on immunological, genetic and environmental factors. On the other hand, DM2 is caused by the inability of pancreatic beta cells to raise the level of insulin in the blood, presenting environmental and genetic factors. Objective: To differentiate genetically the types 1 and 2 diabetes mellitus. Methodology: A literature review was carried out through the Scielo platform, which selected complete articles published between 2007 and 2012 in Portuguese and in the book Williams Treated of endocrinology, 11th edition. Results and Discussion: For DM1 some polymorphic risk genes are known. These are found in the Histocompatibility Complex, more precisely in the region of the Human Leukocyte Antigen (HLA) system on chromosome 6 (p21.3), which are HLA-DQ alpha, HLA-DQ Beta, HLA-DR, insulin and the PTPN22 gene. The HLA-DQ / DR loci are considered the main genetic markers in the presence of antigens in the islets of Langerhans and in the control of the immune response. Non-HLA genes also contribute to the onset of DM1, such as the polymorphism of the insulin gene on chromosome 11, and the genes for the Carrier Involved in the Presentation of Antigen (TAP). In the more rare monogenic form of DM2, mutations occur in the insulin receptor, peroxisome proliferator-activated gamma receptor (PPAR gamma), insulin and a polymorphism in the ...

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American journal of genetics

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