Founder Effect
Mostrando 1-12 de 101 artigos, teses e dissertações.
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1. How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients
Abstract Xeroderma pigmentosum (XP) is a rare, genetic, autosomal nucleotide excision repair-deficient disease characterized by sun-sensitivity and early appearance of skin and ocular tumors. Thirty-two black-skinned XP from Comoros, located in the Indian Ocean, were counted, rendering this area the highest world prevalence of XP. These patients exhibited a
Genet. Mol. Biol.. Publicado em: 13/12/2019
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2. Gene pool sharing and genetic bottleneck effects in subpopulations of Eschweilera ovata (Cambess.) Mart. ex Miers (Lecythidaceae) in the Atlantic Forest of southern Bahia, Brazil
Abstract Forest loss and fragmentation are the main threats to the maintenance of the Atlantic Forest, an important global biodiversity hotspot. Because of the current critical level of deforestation, ecological corridors are needed to facilitate species dispersion and gene flow among fragments. This study was conducted to investigate the genetic variability
Genet. Mol. Biol.. Publicado em: 14/11/2019
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3. Evidence of genetic differentiation and karyotype evolution of the sedges Cyperus ligularis L. and C. odoratus L. (Cyperaceae)
ABSTRACT The taxonomy of Cyperaceae is complex, with genera like Cyperus harboring species complexes. We analyzed the genetic similarity between Cyperus ligularis L. and C. odoratus L. based on DNA fingerprinting and cytogenetics. Significative genetic differentiation (G ST = 0.363) and low gene flow (N m = 0.877) indicated a clear genetic distinction betwe
Acta Bot. Bras.. Publicado em: 15/01/2018
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4. Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect
ABSTRACT Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT5B mutation in this region and to analyze the presence of a founder effect. We obtained DNA samples f
Genet. Mol. Biol.. Publicado em: 05/06/2017
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5. Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53
Abstract Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, characterized by increased predisposition to early-onset cancers. In Brazil, the prevalence of the TP53-p.R337H germline mutation is exceedingly high in the general population and in cancer-affected patients, probably as result of a founder effect. Se
Genet. Mol. Biol.. Publicado em: 03/06/2016
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6. Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation
Abstract Germline TP53 mutations are associated with Li-Fraumeni syndrome (LFS), a disease that predisposes carriers to a wide variety of early onset tumors. In southern and southeastern Brazil, a high frequency of a germline TP53 mutation, p.R337H, was diagnosed in 0,3% of the population due to a founder effect. Carriers are at risk for developing cancer bu
Genet. Mol. Biol.. Publicado em: 24/05/2016
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7. Investigation of the GJB6 Deletion Mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL)
Hearing loss (HL) is the most common inherited sensory disorder affecting about 1 in 1000 births. The first locus for nonsyndromic autosomal recessive HL is on chromosome 13q11-22. The two genes, GJB2 and GJB6, are closely located on chromosome and are known to be co-expressed in the embryonic cochlea. Deletion mutations involving GJB6 were associated with a
Braz. arch. biol. technol.. Publicado em: 29/04/2016
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8. Population structure of Nellore cattle in northeastern Brazil
The objective of this study was to evaluate the population genetic structure of Nellore cattle in northeastern Brazil. Pedigree information was collected from 175,231 animals born from 1967 to 2007. Probability of gene origin, inbreeding, average relatedness coefficient (AR), completeness pedigree, effective population size and generation interval were calcu
R. Bras. Zootec.. Publicado em: 2013-09
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9. Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura
The most common hemoglobinopathies, viz, hemoglobins S and C, and α-and β-thalassemias, were investigated through the molecular screening of 116 subjects from the community of Saracura, comprising fugitive African slaves from farms of the municipality of Santarém, in the west of Pará State, Brazilian Amazon. The observed frequency of the HBB*S gene (0.9%
Genetics and Molecular Biology. Publicado em: 05/07/2012
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10. Population analysis of the GLB1 gene in South Brazil
Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutat
Publicado em: 2011
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11. Population analysis of the GLB1 gene in South Brazil
Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutat
Genetics and Molecular Biology. Publicado em: 2011
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12. The cytogenetics and evolution of forage legumes from Rio Grande do Sul: a review
The work developed by the Cytogenetics Group of the Department of Forage Plants and Agrometeorology (Departamento de Plantas Forrageiras e Agrometerologia - DPFA), Agronomy Faculty, Federal University of Rio Grande do Sul (UFRGS), are reviewed in the present study. Topics discussed include: the chromosome numbers and meiotic behavior of Desmodium and Vigna;
Publicado em: 2010