American Journal of Genetics


Review  Article of American Journal of Genetics KABUKI SYNDROME: A LITERATURE REVIEW Beatriz Reis de Melo Veras1*, Mariana Cardoso Schroeder1, Marina de Araújo Câmara Gusmão1, Mirela Carolaine Cunha da Cruz1, Héberte de Santana Arruda2 Introduction. Kabuki syndrome is a rare congenital anomaly characterized by defects craniofacial, intellectual and cardiac. It has a clinical diagnosis and its main phenotypic characteristic observed is the facial dysmorphia, very similar to the makeup used by the Japanese theater actors Kabuki. This review aims to describe the characteristics of Kabuki Syndrome and its main implications. Methodology. A literature review was conducted with research on the following databases: PubMED, BVS and SCIELO. Five scientific papers and two dissertations were selected. Results. It is believed that the disease is related to a mutation of the MLL2 gene, which is responsible for coding the group of Tritorax proteins, which have as their main regular function and genetic expression. Conclusion. This disease is still poorly understood in the health not having a clarity about their phenotypic / genotypic relationship needing further studies on the subject. Keywords: Kabuki, Kabuki syndrome, Kabuki make-up syndrome, congenital abnormalities ...

Aase syndrome: clinical and behavioral Symptoms

Review  Article of American Journal of Genetics Aase syndrome: clinical and behavioral Symptoms Glauciele Souza de Santana¹*; Daniella de Andrade Monteiro1; Hellen Kevillyn Brito de Souza1; Ieli Lima da Silva1; José Carlos Izidio Filho1; Héberte de Santana Arruda2; Introduction: Aase-Smith syndrome is a rare genetic disease characterized by anemia and skeletal deformities. The age at the start of symptoms is since birth and it´s commom in both sexes. * Show the syndrome problem in individuals, their clinical and behavioral characteristics. Contribute to a better understanding of the Aase Syndrome with syndromes that lead to similar symptoms. Methodology: This literature review on the syndrome was performed with research of information in published scientific articles. Result: Analyzed some common and rare symptoms, reports of observed cases of Aase-Smith syndrome, jointly with their respective symptoms and other syndromes, in addition whit the authors’ arguments in their articles that interpose, for example, about the genetic inheritance of the syndrome is dominant or recessive. Conclusion: The relationship between Aase syndrome and congenital hypoplasia anemia is not fully understood by the scientists and the syndrome represents a challenge in the approach to treatment, since this syndrome has no cure and does not present a standard treatment approach. Keywords: Aase syndrome, Aase-Smith, Symptoms ...


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 ...

Dr Amanjot Kaur Riar
Brigham and Women’s Hospital- Harvard Medical School, Department of Medicine, Harvard New Research Building USA

Dr. Bogdan-Ioan COCULESCU
Center for Medical-Military Research, Bucharest, Romania, and “Titu Maiorescu” University, Faculty of Medicine, Bucharest, Romania

Dr. Mahaboob Vali Shaik
Assistant Professor/Senior Scientist, Department of Genetics & stem cell Research, Narayana Medical College & Hospitals

Dr. Omi Laila Majeed
Division of Basic Sciences and Humanities, Sher-e-Kashmir University of Agricultural Sciences and Technology

Dr. Naoshad Muhammad
Department of Radiation Oncology, School of Medicine, Washington University in Saint Louis, Saint Louis MO-63108

Dr. Abhishek Naik
Area Manager, Technology development department

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1.Silva F.F.L.; Silva K.S.. Main Differences Between Diabetes Mellitus Types 1 and 2 in Relation to Genetic Factors.American Journal of Genetics, 2018, 1:4 
2.Nascimento L.S.F; Melo A.S; Araújo A.R.L. Validation of the Conventional PCR technique for diagnosis of AML with NPM1 gene mutation.American Journal of Genetics, 2018, 1:3 

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American journal of genetics


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