126 research outputs found
Distribuição geogrĂĄfica de pequenos mamĂferos nĂŁo voadores nas bacias dos rios Araguaia e ParanĂĄ, regiĂŁo centro-sul do Brasil
We collected small mammals in two hydrographic basins in central Brazil, namely the ParanĂĄ and Araguaia basins, with the aim of examining the composition of forest dwelling small mammal species and to compare their geographic distributions. Fourteen sites were sampled, eight in the ParanĂĄ basin and six in the Araguaia basin. A total of 20 species of small mammals was registered (8 marsupials and 12 rodents), 16 of them in live traps (5,253 trap-nights) and eight in pitfalls (224 trap-nights), adding to a total of 161 captures of 139 individuals. The ParanĂĄ basin showed 16 species (trap-nights: 3,115 and 104 respectively) and the Araguaia basin 11 species (trap-nights: 2,138 and 120 respectively), being both richness similar when the rarefaction method was applied. Seven (35%) out of the 20 species recorded occurred in both basins. The marsupial Didelphis albiventris Lund, 1840 was the most abundant species. The marsupials species recorded were D. albiventris, Caluromys philander (Linnaeus, 1758), Cryptonanus cf. agricolai Voss, Lunde & Jansa, 2005, Gracilinanus agilis (Burmeister, 1854), G. microtarsus (Wagner, 1842), Lutreolina crassicaudata (Desmarest, 1804), Marmosa murina (Linnaeus, 1758), and Philander opossum (Linnaeus, 1758). The rodent species recorded were Akodon gr. cursor, Calomys tener (Winge, 1887), Nectomys rattus (Pelzen, 1883), N. squamipes (Brants, 1827), Oecomys bicolor (Tomes, 1860), Oryzomys maracajuensis Langguth & Bonvicino, 2002, Oryzomys cf. marinhus, O. megacephalus (Fischer, 1814), Oligoryzomys fornesi (Massoia, 1973), Oligoryzomys sp., Proechimys longicaudatus (Rengger, 1830) and P. roberti (Thomas, 1901). The range extension of some species is discussed, in addition to biogeographic considerations. The CaiapĂłs Mountains may have been a geographic barrier for some small mammal species in the face of the retraction and expansion of forests in the past
Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling
<p>Abstract</p> <p>Background</p> <p>The purpose of this study was to identify mutations associated with bilateral retinoblastoma in a quadruplet conceived by in vitro fertilization, and to trace the parental origin of mutations in the four quadruplets and their father.</p> <p>Methods</p> <p>Mutational screening was carried out by sequencing. Genotyping was carried out for determining quadruplet zygosity.</p> <p>Results</p> <p>The proband was a carrier of a novel <it>RB1</it> constitutive mutation (g.2056C>G) which was not detected in her father or her unaffected sisters, and of two other mutations (g.39606 C>T and g.174351T>A) also present in two monozygotic sisters. The novel mutation probably occurred de novo while the others were of likely maternal origin. The novel mutation, affecting the Kozak consensus at the 5'UTR of <it>RB1</it> and g.174351T>A were likely associated to retinoblastoma in the proband.</p> <p>Conclusion</p> <p>Molecular diagnosis of retinoblastoma requires genotypic data of the family for determining hereditary transmission. In the case of children generated by IVF with oocytes from an anonymous donor which had been stored in a cell repository, this might not be successfully accomplished, making precise diagnosis impracticable for genetic counseling.</p
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