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Id: biblio-1038691
Autor: Magalhães, Otávio de Azevedo; Kowalski, Thayne Woycinck; Wachholz, Gabriela Elis; Schuler-Faccini, Lavinia.
Título: Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder / Sequenciamento do exoma no ceratocone familiar: os desafios de uma doença genética complexa
Fonte: Arq. bras. oftalmol;82(6):453-459, Nov.-Dec. 2019. tab, graf.
Idioma: en.
Resumo: ABSTRACT Purpose: The underlying genetic causes of keratoconus are essentially unknown. Here, we conducted whole-exome sequencing in 2 Brazilian families with keratoconus. Methods: Whole-exome sequencing was performed on 6 keratoconus-affected individuals of 2 unrelated pedigrees from Southern Brazil. Pathogenic variants were identified in a modified Trio analysis (1 parent and 2 children) using candidate gene filtering. All the affected subjects underwent detailed corneal tomographic evaluation. Clinically relevant variants that were present in affected individuals at minor allele frequencies <1% were examined in the 1000 Genomes Project single nucleotide polymorphism ABraOM and transcription gene (RefSeq and Ensembl) databases. Results: In family 1, a sequence variant in chromosome 1 (q21.3) was observed within the filaggrin gene. All the tested family members shared a heterozygous missense pathogenic variant in the c.4678C>T position. In family 2, exome analysis demonstrated a sequence variant in chromosome 16 (q24.2) within the gene encoding zinc finger protein 469 (ZNF469). Members of family 2 shared a heterozygous missense variant in the c.1489G>A position. In addition, the exomes of the 2 families were examined for shared genetic variants among all affected individuals. Filtering criteria did not identify any rare sequence variants in a single gene segregated in both families. Conclusion: Our findings show that a complete genotype-phenotype correlation could not be identified, suggesting that keratoconus is a genetically heterogeneous disease. In addition, we believe that whole-exome sequencing-based segregation analysis is probably not the best strategy for identifying variants in families with isolated keratoconus.

RESUMO Objetivos: As causas genéticas subjacentes do ceratocone são essencialmente desconhecidas. Aqui, realizamos o sequenciamento de todo exoma de duas famílias brasileiras com ceratocone. Métodos: O sequenciamento total do exoma foi realizado em 6 indivíduos com ceratocone de duas famílias distintas do sul do Brasil. Variantes patogênicas foram identificadas em uma análise no formato de trio-modificada (um dos pais e dois filhos) usando a filtragem de genes candidatos. Todos os indivíduos afetados passaram por avaliação de tomografia de córnea. Variantes clinicamente relevantes que estavam presentes em indivíduos afetados em menores frequências alélicas <1% foram avaliadas na base de dados de polimorfismo de nucleotídeo único do 1000 Genomes Project ABraOM e do gene de transcrição (RefSeq e Ensembl). Resultados: Na família 1, uma variante de sequência no cromossomo 1 (q21.3) foi observada dentro do gene da filagrina. Todos os membros dessa família compartilhavam uma mutação missense na posição c.4678C>T. Na família 2, a análise do exoma demonstrou uma variante alélica no cromossomo 16 (q24.2) dentro do gene que codifica a proteína de dedo de zinco 469 (ZNF469). Os membros dessa família compartilham uma mutação missense heterozigota na posição c.1489G>A. Além disso, os exomas das duas famílias foram avaliados para variantes genéticas compartilhadas entre todos os indivíduos afetados. Os critérios de filtragem não identificaram variantes de sequência rara em um único gene segregado em ambas as famílias. Conclusão: Nossos achados indicam que uma completa correlação genótipo-fenótipo não pode ser identificada, sugerindo que o ceratocone é uma doença geneticamente heterogênea. Além disso, acreditamos que análises de segregação baseadas no sequenciamento de todo exoma provavelmente não é a melhor estratégia para identificar variantes em famílias isoladas com ceratocone.
Descritores: Sequenciamento Completo do Exoma/métodos
Ceratocone/genética
-Linhagem
Valores de Referência
Variação Genética/genética
Tomografia/métodos
Córnea/patologia
Córnea/diagnóstico por imagem
Genômica
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Adulto Jovem
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Mendonça, Berenice B
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Id: biblio-887602
Autor: Correa, Fernanda A; França, Marcela M; Fang, Qing; Ma, Qianyi; Bachega, Tania A; Rodrigues, Andresa; Ozel, Bilge A; Li, Jun Z; Mendonca, Berenice B; Jorge, Alexander A L; Carvalho, Luciani R; Camper, Sally A; Arnhold, Ivo J P.
Título: Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing
Fonte: Arch. endocrinol. metab. (Online);61(6):633-636, Dec. 2017. graf.
Idioma: en.
Projeto: CNPq-PQ; . CNPq-PQ; . CNPq- PQ; . São Paulo Research Foundation - Fapesp; . National Institutes of Health - United States of America.
Resumo: SUMMARY Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence similarity between CYP21A2 gene and CYP21A1P pseudogene poses difficulties for exome sequencing interpretation. A 7.5 year-old boy born to second-degree cousins presented with severe short stature (height SDS −3.7) and bone age of 6 years. Clonidine and combined pituitary stimulation tests revealed GH deficiency. Pituitary MRI was normal. The patient was successfully treated with rGH. Surprisingly, at 10.8 years, his bone age had advanced to 13 years, but physical exam, LH and testosterone levels remained prepubertal. An ACTH stimulation test disclosed a non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency explaining the bone age advancement and, therefore, treatment with cortisone acetate was added. The genetic diagnosis of a homozygous mutation in GHRHR (p.Leu144His), a homozygous CYP21A2 mutation (p.Val282Leu) and CYP21A1P pseudogene duplication was established by Sanger sequencing, MLPA and whole-exome sequencing. We report the unusual clinical presentation of a patient born to consanguineous parents with two recessive endocrine diseases: non-classic congenital adrenal hyperplasia modifying the classical GH deficiency phenotype. We used a method of paired read mapping aided by neighbouring mis-matches to overcome the challenges of exome-sequencing in the presence of a pseudogene.
Descritores: Doenças do Desenvolvimento Ósseo/genética
Esteroide 21-Hidroxilase/genética
Receptores de Neuropeptídeos/genética
Hiperplasia Suprarrenal Congênita/genética
Nanismo Hipofisário/genética
-Linhagem
Fenótipo
Doenças do Desenvolvimento Ósseo/etiologia
Receptores de Hormônios Reguladores de Hormônio Hipofisário/genética
Hiperplasia Suprarrenal Congênita/complicações
Consanguinidade
Nanismo Hipofisário/complicações
Mutação
Limites: Humanos
Masculino
Lactente
Criança
Tipo de Publ: Relatos de Casos
Responsável: BR1.1 - BIREME


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Vieira, José Gilberto H
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Id: biblio-887620
Autor: Franco, Luciana F; Peixoto-Barbosa, Renata; Dotto, Renata P; Vieira, José Gilberto H; Dias-da-Silva, Magnus R; Reis, Luiz Carlos F; Giuffrida, Fernando M A; Reis, Andre F.
Título: More than kin, less than kind: one family and the many faces of diabetes in youth
Fonte: Arch. endocrinol. metab. (Online);61(6):637-642, Dec. 2017. tab, graf.
Idioma: en.
Projeto: Fapesp.
Resumo: SUMMARY Identification of the correct etiology of diabetes brings important implications for clinical management. In this report, we describe a case of a 4-year old asymptomatic girl with diabetes since age 2, along with several individuals in her family with different etiologies for hyperglycemia identified in youth. Genetic analyses were made by Sanger sequencing, laboratory measurements included HbA1c, lipid profile, fasting C-peptide, pancreatic auto-antibodies (glutamic acid decarboxylase [GAD], Islet Antigen 2 [IA-2], and anti-insulin). We found a Gly178Ala substitution in exon 5 of GCK gene in three individuals co-segregating with diabetes, and type 1 diabetes was identified in two other individuals based on clinical and laboratory data. One individual with previous gestational diabetes and other with prediabetes were also described. We discuss difficulties in defining etiology of hyperglycemia in youth in clinical practice, especially monogenic forms of diabetes, in spite of the availability of several genetic, laboratory, and clinical tools.
Descritores: Proteínas Serina-Treonina Quinases/genética
Predisposição Genética para Doença
Diabetes Mellitus/genética
Fator 1-alfa Nuclear de Hepatócito/genética
Fator 4 Nuclear de Hepatócito/genética
-Linhagem
Testes Genéticos
Diabetes Mellitus/classificação
Quinases do Centro Germinativo
Genótipo
Mutação
Limites: Humanos
Masculino
Feminino
Pré-Escolar
Adulto
Pessoa de Meia-Idade
Idoso
Responsável: BR1.1 - BIREME


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Id: lil-797179
Autor: Nascimento, Michele Cardoso do; Abreu, Clarice Lima do Canto; Costa, Rodrigo Netto; Moura, Wlamir Corrêa de; Delgado, Isabella Fernandes.
Título: Avaliação da concordância entre as linhagens de camundongos Swiss Webster e B6D2F1 no teste de potência da Eritropoietina Humana Recombinante (rhEPO): a experiência do Laboratório Nacional de Controle / Evaluation of the agreement between Swiss Webster and B6D2F1 mice lineages in the potency test of Recombinant Human Erythropoietin (rhEPO): the Brazilian National Control Laboratory experience
Fonte: Rev. Inst. Adolfo Lutz;74(4):337-346, out.-dez.2015. tab, graf.
Idioma: pt.
Resumo: A eritropoietina humana recombinante (rhEPO) é um hormônio glicoproteico. Diante da gama de produtos contendo rhEPO disponíveis no mercado, da abrangência da indicação terapêutica e das características dos usuários de rhEPO, o ensaio de atividade biológica é de grande importância para o processo de liberação de lotes deste produto. O teste de potência é uma avaliação laboratorial para averiguar a eficácia do produto final, recomendada pela Farmacopeia Europeia (Ph. Eur.). Este trabalho teve como objetivo avaliar a concordância entre os valores de potência biológica obtidos quando a linhagem de camundongos preconizada pela Ph. Eur. (B6D2F1) foi utilizada em comparação com a Swiss Webster (SW). Vinte e dois lotes foram testados usando-se estas duas linhagens, e 44 ensaios válidos foram obtidos com resultados satisfatórios. Em nenhuma das análises houve necessidade de efetuar repetição de ensaios, bem como a combinação de resultados. A variação entre linhagens e a veracidade foram avaliadas, obtendo-se os seguintes resultados: Coeficiente de Variação (CV) < 10 %; Erro Relativo % (ER %) < 10 %, respectivamente. As linhagens testadas geraram resultados homogêneos sem diferença estatisticamente significativa entre elas. A linhagem SW mostrou características adequadas para ser empregada como alternativa à linhagem B6D2F1 na avaliação da potência biológica de rhEPO...
Descritores: Eritropoetina
Linhagem
Vigilância Sanitária
Limites: Animais
Camundongos
Responsável: BR91.2 - Centro de Documentação


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Id: biblio-989291
Autor: Galeano-Valle, Francisco; Vengoechea, Jaime; Galindo, Rodolfo J.
Título: A rare mutation in hypophosphatasia: a case report of adult form and review of the literature
Fonte: Arch. endocrinol. metab. (Online);63(1):89-93, Jan.-Feb. 2019. graf.
Idioma: en.
Resumo: SUMMARY Hypophosphatasia is a rare inborn error of metabolism characterized by low serum alkaline phosphatase activity due to loss-of-function mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Extracellular accumulation of TNSALP substrates leads to dento-osseous and arthritic complications featuring tooth loss, rickets or osteomalacia, and calcific arthopathies. Mild hypophosphatasia usually has autosomal dominant inheritance, severe cases are either autosomal recessive or due to a dominant negative effect. Clinical manifestations of hypophosphatasia are extremely variable, ranging from life threatening to asymptomatic clinical presentations. The clinical presentation of the adult-onset hypophosphatasia is highly variable. Fractures, joint complications of chondrocalcinosis, calcifying polyarthritis and multiple pains may reveal minor forms of the disease in adults. It is important to recognize the disease to provide the best supportive treatment and to prevent the use of anti-resorption drugs in these patients. Bone-targeted enzyme-replacement therapy (asfotase alfa) was approved in 2015 to treat pediatric-onset hypophosphatasia. We present a case of a 41-year-old male diagnosed with adult form of hypophosphatasia with a rare ALPL mutation that has been previously described only once and review the literature on the adult form of the disease and its genetic mechanism.
Descritores: Fosfatase Alcalina/genética
Hipofosfatasia/genética
Mutação/genética
-Linhagem
Limites: Humanos
Masculino
Adulto
Tipo de Publ: Relatos de Casos
Revisão
Responsável: BR1.1 - BIREME


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Id: biblio-1019354
Autor: García, William Rojas; Cortes, Henry Tovar; Romero, Andrés Florez.
Título: Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)
Fonte: Arch. endocrinol. metab. (Online);63(4):385-393, July-Aug. 2019. tab, graf.
Idioma: en.
Resumo: ABSTRACT Introduction Gigantism is a rare pediatric disease characterized by increased production of growth hormone (GH) before epiphyseal closure, that manifests clinically as tall stature, musculoskeletal abnormalities, and multiple comorbidities. Materials and methods Case series of 6 male patients with gigantism evaluated at the Endocrinology Service of Hospital de San José (Bogotá, Colombia) between 2010 and 2016. Results All patients had macroadenomas and their mean final height was 2.01 m. The mean age at diagnosis was 16 years, and the most common symptoms were headache (66%) and hyperhidrosis (66%). All patients had acral changes, and one had visual impairment secondary to compression of the optic chiasm. All patients underwent surgery, and 5 (83%) required additional therapy for biochemical control, including radiotherapy (n = 4, 66%), somatostatin analogues (n = 5, 83%), cabergoline (n = 3, 50%), and pegvisomant (n = 2, 33%). Three patients (50%) achieved complete biochemical control, while 2 patients showed IGF-1 normalization with pegvisomant. Two patients were genetically related and presented a mutation in the aryl hydrocarbon receptor-interacting protein (AIP) gene (pathogenic variant, c.504G>A in exon 4, p.Trp168*), fulfilling the diagnostic criteria of familial isolated pituitary adenoma. Conclusions This is the largest case series of patients with gigantism described to date in Colombia. Transsphenoidal surgery was the first-choice procedure, but additional pharmacological therapy was usually required. Mutations in the AIP gene should be considered in familial cases of GH-producing adenomas.
Descritores: Neoplasias Hipofisárias/terapia
Adenoma/terapia
Gigantismo/terapia
-Linhagem
Neoplasias Hipofisárias/diagnóstico
Fator de Crescimento Insulin-Like I/análise
Hormônio do Crescimento/sangue
Adenoma/diagnóstico
Estudos Retrospectivos
Seguimentos
Resultado do Tratamento
Distribuição por Sexo
Colômbia
Peptídeos e Proteínas de Sinalização Intracelular/genética
Adenoma Hipofisário Secretor de Hormônio do Crescimento/genética
Gigantismo/diagnóstico
Mutação/genética
Limites: Humanos
Masculino
Adolescente
Adulto Jovem
Responsável: BR1.1 - BIREME


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Id: biblio-1019359
Autor: Gómez, Ana Milena; Soares, Diogo Cordeiro; Costa, Alexandre André Balieiro; Pereira, Daniele Paixão; Achatz, Maria Isabel; Formiga, Maria Nirvana.
Título: Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance
Fonte: Arch. endocrinol. metab. (Online);63(4):369-375, July-Aug. 2019. tab, graf.
Idioma: en.
Resumo: ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize PGL/PCC families to exemplify the different scenarios in which hereditary syndromes can be suspected and to emphasize the importance for patients and their families of making an opportune genetic diagnosis. Materials and methods Retrospective analysis of patients diagnosed with PGL/PCC. Germline mutations were studied using next-generation sequencing panels including SDHA, SDHB, SDHC and SDHD. Clinical data were collected from clinical records, and all patients received genetic counseling. Results We describe 4 families with PGL/PCC and germline mutations in SDH complex genes. 2 families have SDHB mutations and 2 SDHD mutations. The clinical presentation of the patients and their families was heterogeneous, with some being atypical according to the literature. Conclusions PGL/PCC are more commonly associated with a germline mutation than any other cancer type, therefore, all individuals with these types of tumors should undergo genetic risk evaluation. NGS multigene panel testing is a cost-effective approach given the overlapping phenotypes. Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical and imaging surveillance and their families should undergo genetic counseling. For all these reasons, it is critical that all medical staff can suspect and diagnose these inherited cancer predisposition syndromes.
Descritores: Paraganglioma/genética
Feocromocitoma/genética
Neoplasias das Glândulas Suprarrenais/genética
Mutação em Linhagem Germinativa/genética
-Linhagem
Testes Genéticos/métodos
Estudos Retrospectivos
Vigilância de Evento Sentinela
Predisposição Genética para Doença
Limites: Humanos
Masculino
Feminino
Responsável: BR1.1 - BIREME


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Zajdenverg, Lenita
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Id: biblio-1088775
Autor: Tarantino, Roberta Magalhães; Abreu, Gabriella de Medeiros; Fonseca, Ana Carolina Proença de; Kupfer, Rosane; Pereira, Maria de Fátima Carvalho; Campos Júnior, Mario; Zajdenverg, Lenita; Rodacki, Melanie.
Título: MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
Fonte: Arch. endocrinol. metab. (Online);64(1):17-23, Jan.-Feb. 2020. tab, graf.
Idioma: en.
Resumo: ABSTRACT Objective We aimed to identify the frequency of monogenic diabetes, which is poorly studied in multiethnic populations, due to GCK or HNF1A mutations in patients with suggestive clinical characteristics from the Brazilian population, as well as investigate if the MODY probability calculator (MPC) could help patients with their selection. Subjects and methods Inclusion criteria were patients with DM diagnosed before 35 years; body mass index < 30 kg/m2; negative autoantibodies; and family history of DM in two or more generations. We sequenced HNF1A in 27 patients and GCK in seven subjects with asymptomatic mild fasting hyperglycemia. In addition, we calculated MODY probability with MPC. Results We identified 11 mutations in 34 patients (32.3%). We found three novel mutations. In the GCK group, six cases had mutations (85.7%), and their MODY probability on MPC was higher than 50%. In the HNF1A group, five of 27 individuals had mutations (18.5%). The MPC was higher than 75% in 11 subjects (including all five cases with HNF1A mutations). Conclusion Approximately one third of the studied patients have GCK or HNF1A mutations. Inclusion criteria included efficiency in detecting patients with GCK mutations but not for HNF1A mutations (< 20%). MPC was helpful in narrowing the number of candidates for HNF1A screening.
Descritores: Diabetes Mellitus Tipo 2
Fator 1-alfa Nuclear de Hepatócito/genética
Glucoquinase/genética
Mutação/genética
-Linhagem
Fenótipo
Brasil
Estudos Transversais
Probabilidade
Limites: Humanos
Masculino
Feminino
Criança
Adolescente
Adulto
Adulto Jovem
Tipo de Publ: Estudo Observacional
Responsável: BR1.1 - BIREME


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Id: lil-681001
Autor: Gómez-Calero, Víctor; Cornejo-Olivas, Mario; Ortega, Olimpio; Marca, Victoria; Lindo-Samanamud, Saúl; Flores, Martha; Torres-Ramírez, Luis; Mazzetti, Pilar.
Título: Enfermedad de Kennedy en el Perú: Primeros casos con diagnóstico molecular / Kennedy disease in Peru: First cases with molecular diagnosis
Fonte: Rev. peru. med. exp. salud publica;30(2):331-335, abr.-jun. 2013. ilus, graf, tab.
Idioma: es.
Resumo: La enfermedad de Kennedy es un trastorno neurodegenerativo de herencia recesiva ligada al cromosoma X, de inicio en la adultez, caracterizado por degeneración progresiva de las neuronas motoras espinales, debido a una mutación dinámica del gen del receptor de andrógeno. Se presentan tres familias (cinco casos) con temblor, calambres, debilidad muscular generalizada lentamente progresiva con atrofia, afectación de músculos bulbares y alteraciones endocrinas. El estudio neurofisiológico demostró compromiso de segunda motoneurona. El análisis molecular mostró una expansión anormal de tripletes citosina-adenina-guanina en el gen de receptor de andrógeno en todos los casos. Todos los pacientes cursaron con una presentación clínica típica de la enfermedad siendo los primeros casos de enfermedad de Kennedy con diagnóstico molecular realizado en el Perú.

Kennedy’s disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving both limbs and bulbar muscles, atrophy, tremor, cramps and endocrinologic disturbances; the neurophysiological studies demonstrated second motor neuron impairment. The molecular analysis identified abnormal CAG repeats expansion in the androgen receptor gene (AR) in all cases. Clinical features were consistent with other previous reports. These are the first Peruvian cases of Kennedy´s disease with confirmed molecular diagnosis.
Descritores: Atrofia Bulboespinal Ligada ao X
-Atrofia Bulboespinal Ligada ao X/diagnóstico
Atrofia Bulboespinal Ligada ao X/genética
Linhagem
Peru
Limites: Adulto
Idoso
Humanos
Masculino
Pessoa de Meia-Idade
Tipo de Publ: Relatos de Casos
Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Id: lil-609584
Autor: Córdova, Jesús H; Fujita, Ricardo; Sandoval, José; Descailleaux, Jaime; Velásquez, Margarita; Távara, Caleen; Barletta, Claudia.
Título: Divergencia genética en poblaciones peruanas detectada a partir de las frecuencias haplotípicas del mtDNA y del gen nuclear MBL / Peruvian population's genetic differences detected by both mtDNA and MBL nuclear gene haplotypical frequencies
Fonte: An. Fac. Med. (Perú);72(1):51-59, ene.-mar. 2011. ilus, tab.
Idioma: es.
Resumo: Objetivos: Avanzar en el conocimiento del origen de las poblaciones peruanas estudiadas en un contexto filogeográfico. Diseño: Estudio genético poblacional. Instituciones: Laboratorio de Genética Humana, Facultad de Ciencias Biológicas, Universidad Nacional Mayor de San Marcos, e Instituto de Genética y Biología Molecular, Facultad de Medicina, Universidad San Martín de Porras, Lima, Perú. Participantes: Siete poblaciones peruanas. Metodología: Análisis comparativo de los resultados a partir del estudio del mtDNA y el gen nuclear MBL de siete poblaciones peruanas, procesados de manera separada y luego combinados, utilizando el programa PHYLYP 3.65, para obtener valores FST de diferenciación genética y la construcción de árboles de distancias por aplicación del algorritmo UPGMA y el análisis subsecuente de los agrupamientos (clusters) generados. Principales medidas de resultados: Árboles genéticos generados. Resultados: De manera separada, los árboles generados para cada marcador genético tuvieron topologías propias y diferentes entre sí. Procesados de manera combinada, el árbol resultante demostró que los mayores valores de diferenciación genética se hallaron en las Islas del Lago Titicaca (Puno, Perú) conocidas -Taquile, Amantani y Anapia-, que fue calificada como muy alta, porque mostró valores de FST de 0.3113, 0.2949 y 0.3348 respecto de las poblaciones estudiadas, tanto fuera del Departamento de Puno -como Chachapoyas, Pucallpa y Chiclayo, respectivamente-, así como a la de los Uro del mismo Puno y del mismo Lago Titicaca (0.2837). Fuera de Puno, el par de poblaciones Chachapoyas-Pucallpa fue el menos divergente, al alcanzar entre ellas un valor de FST de 0.0108, calificándosele de pequeña. Conclusiones: El árbol obtenido del procesamiento de los marcadores vía una matriz combinada demostró que las poblaciones que habitan las islas de Taquile, Amantani y Anapia, divergen notablemente de las restantes cuatro procesadas del Perú, incluyendo la más próxima a ellas dentro del mismo Lago Titicaca, como es la de los Uro. Explicar estos hallazgos será el siguiente objetivo de nuestras investigaciones, en principio, mediante la ampliación de los marcadores genéticos empleados y del número de poblaciones analizadas a nivel del Perú.

Objectives: To advance in the knowledge of Peruvian populationsÆ origin in a phylogeographical context. Design: Population genetics study. Setting: Human Genetics Laboratory, Biological Sciences Faculty, Universidad Nacional Mayor de San Marcos, and Genetics and Molecular Biology Institute, Faculty of Medicine, Universidad San Martin de Porras, Lima, Peru. Participants: Seven Peruvian populations. Methods: Comparative analysis of mtDNA and MBL nuclear gene study results in seven Peruvian populations processed separately and then combined using PHYLYP 3.65 Program in order to obtain FST values of genetic differentiation; construction of distance trees by applying UPGMA algorithm and subsequent generated clustersÆ analysis. Main outcome measures: Genetic trees. Results: Trees generated for each genetic marker had proper and distinct topologies among them. Combined processing resulted in a tree with higher values of genetic differentiation in Lago Titicaca Islands (Puno, Peru) Taquile, Amantani y Anapia, graded as very high because they showed 0.3113, 0.2949 y 0.3348 FST values with respect to the populations studied outside of Puno Department -like Chachapoyas, Pucallpa and Chiclayo-, as well as those of both UroÆs in same Puno and Lago TiticacaÆs populations (0.2837). Out of Puno, the pair Chachapoyas-Pucallpa population was the least divergent with 0.0108 FST value between them, classifying as small. Conclusions: The tree obtained from markers by a combined matrix process determined that populations inhabiting in Taquile, Amantani y Anapia islands possess notable genetic divergence respect to the four remainders studied in Peru, including the UroÆs population geographically very close to them and within the same Lago Titicaca. Our next objective will be to explain these findings initially by increasing genetic markers and number of populations analyzed in Peru.
Descritores: Frequência do Gene
Grupos Populacionais
Linhagem
Marcadores Genéticos
Variação Genética
-Peru
Limites: Humanos
Responsável: PE13.1 - Oficina de Biblioteca, Hemeroteca y Centro de Documentación



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