Consulta: subjectFacets:"Founder effect"
Registros recuperados: 6
Data/hora: 10/06/2024 01:27:35

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
Provedor de dados: 74
Autores: Santos,Alesandro S.; Borges,Daniela B.; Vivas,Caio V.; Berg,Cassio Van Den; Rodrigues,Polliana S.; Tarazi,Roberto; Gaiotto,Fernanda Amato.
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 and gene pool sharing of Eschweilera ovata in five forest remnants in southern Bahia, Brazil using nuclear simple sequence repeat (nSSR) and plastid simple sequence repeat (cpSSR) microsatellite markers. cpSSR marker analysis revealed the domains of four haplotypes, showing that 80% of the individuals had only four maternal origins, reflecting a founder effect and/or genetic bottleneck. The results of...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Functional connectivity; Tree species; Chloroplast; Founder effect; Simple sequence repeat development.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400655

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect
Provedor de dados: 74
Autores: Scalco,Renata C.; Gonçalves,Fernanda T.; Santos,Hadassa C.; Cardena,Mari M. S. G.; Tonelli,Carlos A.; Funari,Mariana F. A.; Aracava,Rosana M.; Pereira,Alexandre C.; Fridman,Cintia; Jorge,Alexander A. L.
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 from 1,205 local inhabitants, 48 relatives of the homozygous patients and four individuals of another affected family. Genotyping for STAT5B c.424_427del mutation and for two polymorphic markers around it was done through fragment analysis technique. We also determined Y-chromosome and mtDNA haplotypes and genomic ancestry in heterozygous carriers. We identified seven families with STAT5B c.424_427del...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Founder effect; Growth hormone insensitivity; Immune dysfunction; STAT5B.
Ano: 2017
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300436

Lack of association between genetic polymorphisms in IGF1 and IGFBP3 with twin births in a Brazilian population (Cândido Godói, Rio Grande do Sul)
Provedor de dados: 74
Autores: Oliveira-Klein,Mariana de; Cardoso-dos-Santos,Augusto César; Tagliani-Ribeiro,Alice; Fagundes,Nelson Rosa; Matte,Ursula; Schuler-Faccini,Lavinia.
Abstract Insulin-like growth factor (IGF-1) is an important peptide hormone involved in the reproduction and fetal development of mammals, and it is suggested that it may influence the human twinning rate. This study aimed to test such possible association, investigating the genetic polymorphisms IGF1 (CA)n and IGFBP3 rs2854744 in the population from Candido Godoi (CG), a small city located in the South of Brazil that has a high prevalence of twin births. A case-control study was performed comprising a total of 39 cases (representing about 40% of the mothers of twins who were born in CG after 1995) and 214 controls (mothers of non-twin children), 97 of whom were living in CG while 117 were living in Porto Alegre. DNA was extracted from blood leucocytes and...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Insulin-like growth factor; Founder effect; Microsatellite; Reproduction; Twinning.
Ano: 2018
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500775

Population medical genetics: translating science to the community
Provedor de dados: 74
Autores: Giugliani,Roberto; Bender,Fernanda; Couto,Rowena; Bochernitsan,Aline; Brusius-Facchin,Ana Carolina; Burin,Maira; Amorim,Tatiana; Acosta,Angelina Xavier; Purificação,Antônio; Leistner-Segal,Sandra; Saraiva-Pereira,Maria Luiza; Jardim,Laura Bannach; Matte,Ursula; Riegel,Mariluce; Cardoso-dos-Santos,Augusto César; Rodrigues,Graziella; Oliveira,Marcelo Zagonel de; Tagliani-Ribeiro,Alice; Heck,Selia; Dresch,Vanusa; Schuler-Faccini,Lavínia; Kubaski,Francyne.
Abstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area. These favorable conditions lead to the creation of a new discipline, known as “population medical genetics”, which integrates medical genetics, population genetics, epidemiological genetics and community genetics. In order to develop practical activities in this new discipline, the National...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Population Medical Genetics; Genetic clusters; Founder effect; Population isolates.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200312

Population analysis of the GLB1 gene in South Brazil
Provedor de dados: 74
Autores: Baiotto,Cléia; Sperb,Fernanda; Matte,Ursula; Silva,Cláudia Dornelles da; Sano,Renata; Coelho,Janice Carneiro; Giugliani,Roberto.
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 mutations (1622-1627insG and R59H) in the GLB1 gene. Another group, consisting of 26 GM1 patients, and the blood donors were tested for the presence of two polymorphisms (R521C and S532G), in an attempt to elucidate whether there is a founder effect. The frequencies of the R59H and 1622-1627insG mutations among the GM1 patients studied were 19.2% and 38.5%, respectively. The frequency of polymorphism S532G...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: GM1 gangliosidosis; Beta-galactosidase; GLB1 gene; Founder effect; Linkage disequilibrium.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000100009

GENETIC STATUS, SOURCE AND ESTABLISHMENT RISK OF THE GIANT TIGER SHRIMP (PENAEIDAE: Penaeus monodon), AN INVASIVE SPECIES IN COLOMBIAN CARIBBEAN WATERS
Provedor de dados: 37
Autores: AGUIRRE-PABÓN,J.C; OROZCO BERDUGO,G. Jr; NARVÁEZ BARANDICA,J.C.
The tiger shrimp (Penaeus monodon) is an Indo-Pacific species. Its global production between 1970 and 1980 exceeded all other shrimp species, which favored its introduction and cultivation outside its natural range in several countries of Africa, Europe, USA and South America. It is currently found in the coast of the Atlantic Ocean (Mexico, United States, Puerto Rico, Brazil, Guyana, Venezuela and Colombia). Despite the risk involved, no studies have been conducted to evaluate their impact as a possible invasive species and their genetic condition. This study evaluated the genetic status and population origin of P. monodon in the northernmost Colombian Caribbean, analyzing the mitochondrial DNA control region (mtDNA-CR). 16 individuals were randomly...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Biological invasion; Caribbean Sea; Founder effect; Genetic relationships; Mitochondrial DNA.
Ano: 2015
URL: http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0120-548X2015000100013