American Journal of Genetics


Validation of the Conventional PCR technique for diagnosis of AML with NPM1 gene mutation

Research Article of American Journal of Genetics Validation of the Conventional PCR technique for diagnosis of AML with NPM1 gene mutation Nascimento L.S.F1; Melo A.S2; Araújo A.R.L3 1Student of Biomedicine – UFPE; 2Researcher from Laboratório central/ CB – UFPE; 3Professor/Researcher from Department of Biophysics – UFPE. Introduction: NPM1 gene mutations are the most frequent mutations in adults with acute myeloid leukemia (AML) they are found in 30% of adult de novo AML and in 60% of AML with normal karyotype. Because its clinical relevancy the European Leukemianet group recommends the research of NPM1 mutations at diagnosis to better stratify the risk of patients with AML. The current methodologies used to detect these mutations – Sanger sequence and fragment analysis- are expensive, therefore, there is the necessity of the development of new and cheapest methodologies for implementation in a routine diagnosis for patients with AML, mainly thinking of development countries. Objectives: To validate the technique of PCR followed by electrophoresis on agarose gel to detect mutations in NPM1 gene in patients with AML. Methodology: 196 patients with de novo AML were analyzed. Conventional PCR was made and the products of its amplification were seen by electrophoresis on agarose gel with 4%. The gold standard used for comparisons was the fragment analysis by the MEGABACE 1000 equipment (GE Healthcare- Amersham). Results and Discussion: 19,4% of the patients were mutated (38 of 196 patients) and 80,6% were normal (158 of 196 patients). All mutations were insertions of 4 base pair. The conventional PCR technique revealed a sensibility and specificity of 100% showing to be a sensitive, simple and economic method which can be used as an alternative to others more expansive methodologies that also need a more specialized professional to the diagnostic routine of patients with AML. Conclusions: This study proposes a faster, economic ...

Genetic Analysis of the Clinical Manifestations of Lipofuscinosis (Batten Syndrome)

Review Article of American Journal of Genetics Genetic Analysis of the Clinical Manifestations of Lipofuscinosis (Batten Syndrome) Cursino G.T¹, Donato H.M.G², Luis J.M.S³, Ferreira K.M.L.M4, Soares T.A.B5, Souza M.B.R6 1,2,3,4,5Medical Student – UNICAP; 6Teacher/Researcher of Dept. of Biological Sciences and Health – UNICAP Introduction: Neuronal Ceroid Lipofuscinosis (NCL) is a group of neurodegenerative genetic diseases characterized by the accumulation of lipid pigment in neuronal lysosomes and other tissues. Batten syndrome (BS) is the juvenile form of this group, beginning in childhood, with its primary symptomatology manifested between 5-10 years of age, with progressive visual loss and decreased intellectual capacity. Objectives: To correlate genotype and phenotype of Batten Syndrome. Methodology: Articles published between 2000 and 2010 were pre-selected through the PubMed and SciELO databases, using the descriptor: neuronal ceroid lipofuscinoses. Twenty texts were initially analyzed, of which ten were selected after the study of titles and abstracts. Considering inclusion and exclusion criteria, only six were included in the review because they referred to the BS theme in the descriptors and abstracts. Results and Discussion: BS, an inherited autosomal recessive disease, results from the CLN3 gene mutation located on the short arm of chromosome 16p12.1, interfering with the function of the battenin protein. Clinical manifestations begin with dementia, changes in visual acuity, as well as speech disturbances, slow decline in cognitive functions and epilepsy. Motor alterations are more common in the adolescence, however, they may appear at early times and vary in intensity. The neuroradiological exams are used for the diagnosis of BS, such as computed tomography, magnetic resonance imaging (MRI) and MR proton spectroscopy, which may demonstrate cerebral and cerebellar atrophy. It is also possible to perform fundoscopy of the eye to detect abnormal pigmentation of the retina and optic atrophy. Conclusion: Due to the difficult diagnosis of BS, a disease of ...

Genetic Analysis of Clinical Manifestations of Friedreich Ataxia

Review Article of American Journal of Genetics Genetic Analysis of Clinical Manifestations of Friedreich Ataxia Cursino G.T¹, Donato H.M.G², Luis J.M.S³, Ferreira K.M.L.M4, Soares T.A.B5, Souza M.B.R6 1,2,3,4,5Medical Student – UNICAP; 6Teacher/Researcher of Dept. of Biological Sciences and Health – UNICAP Introduction:Friedreich’s ataxia (FA), an autosomal neurodegenerative disorder, conditions a destruction of nerve cells during the progression of the disease, affecting cardiac, bone and pancreatic cells. It has as main symptoms walking difficulty, progressing to changes in limb sensitivity, speech problems, atypical ocular movements, heart disease and diabetes. Objective: To carry out a review of the literature on Friedreich’s ataxia and its association with genetic alterations and molecular diagnosis. Methodology: Articles published between 2010 and 2015 were pre-selected through the PubMed and SciELO databases, using the descriptor: ataxia. Analyzing the texts, 50 studies were initially identified. After reviewing the abstracts, considering the inclusion and exclusion criteria, 20 were analyzed, 3 were included in the review because they referred to the FA theme in the descriptors and abstracts. Results and Discussion: FA was identified through the genetic mapping, determinating chromosome 9 as the locus of malformation. This chromosome contains the frataxin gene, which encodes a frataxin protein, relating as mutations and causing abnormal repeats of glutamic acid (GAA). Homozygous for GAA represents 94% of patients with the classic form of the disease. The main clinical symptoms of FA are limb ataxia, cerebellar dysarthria, sensorimotor deficit in the lower limbs and pyramidal signs. Its diagnosis is made based on clinical investigations and confirmed from tests of molecular genetics. Thus, the genetic study associated with clinical investigation allows the prognosis, characterizing: a severity of the condition, its evolution and probability of being related to myocardiopathies. Conclusion: FA, an evolutionary disease, causes complete clinical changes after a few years from the beginning of the symptomatology, ...

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American journal of genetics

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