Objective: To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome. Methods: Urine...Objective: To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome. Methods: Urine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents. Results: The result showed that the patient was: DS(++), HS(++), KS(-), CS(-), and that both of his parents were negative. A frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient's IDS gene. His parents' genotypes were normal. Conclusion:The patient's mutation was not inherited by his parents but a novel one. The mutation probably altered the primary structure and tertiary structure of IDS enzyme protein remarkably and lowered the activity of IDS enzyme greatly. Therefore it is supposed to be the direct cause of the disorder.展开更多
A facultative heterotrophic strain （DS-0205） was isolated from a deep-sea sediment sample collected at a depth of 5.2 km in the eastern Pacific Ocean, China. Strain DS-0205 is motile helmet-like single cell or pairs...A facultative heterotrophic strain （DS-0205） was isolated from a deep-sea sediment sample collected at a depth of 5.2 km in the eastern Pacific Ocean, China. Strain DS-0205 is motile helmet-like single cell or pairs, forming hemisphere with the center sunken of variable size. It has a widespread carbon source and nitrogen source, including agarose, citric acid, salicin, D-glucitol nitrate, sodium nitrite and cthylamine, tt can grow in the following environment： temperature 4-37℃, pH 2.0-12.0, tolerance to NaCl≤15%. Two phylogenetic trees, one based on the ITS and 5.8S rRNA sequences and the other based on the 18S rRNA sequences, unite strain DS-0205（=JCM 0205） to the type strain of Rhodosporidium diobovatum JCM 3787 through a considerable evolutionary distance. These results suggest that strain DS-0205 is a new strain of the Rhodosporidium diobovatum.展开更多
Well Lundong-1 is located in the periclinal area on the eastern flank of the Tahe-Lunnan paleo-uplift in the Tarim Basin. A 25-m-high cave fill sequence was observed in the Upper Ordovician interval of the well at 680...Well Lundong-1 is located in the periclinal area on the eastern flank of the Tahe-Lunnan paleo-uplift in the Tarim Basin. A 25-m-high cave fill sequence was observed in the Upper Ordovician interval of the well at 6800-6825m. A third cut of cores was obtained from the top of the cave. The following conclusions were obtained by studying the cave sediments and depositional sequence, and by undertaking paleontological and elemental geochemistry analyses. 1. The cave sediments contain abundant brachiopod, gastropod, echinoderm, ostracod, and acritach fossils, which can be classified into two groups: cave autochthonous and cave allochthonous fossils (from collapse breccia dissolution or transportation by underflow). The fossils indicate that the cave was formed before the Carboniferous and partly-filled and buried during Carboniferous resubsidence. 2. Elemental geochemistry shows that the mud that filled the cave is sourced from calcareous paleo-soil and weathered crust that came from a salty environment with poor water circulation. 3. The formation and evolution of the cave occurred in three stages. The first stage occurred after the deposition of the Late Ordovician Lianglitage Formation, the second stage took place after the deposition of the Late Ordovician Sangtamu Formation, and the last stage happened after Silurian deposition. Major dissolution occurred in the latter two stages as a result of bedding-confined deep underflow karstification. Based on the reconstruction of the cave formation history, favorable paleokarst targets can be predicted and estimated to aid paleogeography and paleokarstology studies.展开更多
基金Project partly supported by the Ph.D. Program of the National Edu-cational Committee (No. 2000044)the Chinese Medical Board(2003), China
文摘Objective: To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome. Methods: Urine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents. Results: The result showed that the patient was: DS(++), HS(++), KS(-), CS(-), and that both of his parents were negative. A frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient's IDS gene. His parents' genotypes were normal. Conclusion:The patient's mutation was not inherited by his parents but a novel one. The mutation probably altered the primary structure and tertiary structure of IDS enzyme protein remarkably and lowered the activity of IDS enzyme greatly. Therefore it is supposed to be the direct cause of the disorder.
基金Projects(40776035, 40376036) supported by the National Natural Science Foundation of ChinaProject(DY105-02-04-05) supported by the China Ocean Mineral Resources Research and Development Association+2 种基金Project(07MX27) supported by the Mittal Student FoundationProject (2340-74236000003) supported by the Post-graduate Foundation of Hunan Province, ChinaProject (200805330053) supported by the Doctoral Foundation of Ministry of Education of China
文摘A facultative heterotrophic strain （DS-0205） was isolated from a deep-sea sediment sample collected at a depth of 5.2 km in the eastern Pacific Ocean, China. Strain DS-0205 is motile helmet-like single cell or pairs, forming hemisphere with the center sunken of variable size. It has a widespread carbon source and nitrogen source, including agarose, citric acid, salicin, D-glucitol nitrate, sodium nitrite and cthylamine, tt can grow in the following environment： temperature 4-37℃, pH 2.0-12.0, tolerance to NaCl≤15%. Two phylogenetic trees, one based on the ITS and 5.8S rRNA sequences and the other based on the 18S rRNA sequences, unite strain DS-0205（=JCM 0205） to the type strain of Rhodosporidium diobovatum JCM 3787 through a considerable evolutionary distance. These results suggest that strain DS-0205 is a new strain of the Rhodosporidium diobovatum.
基金supported by"Conditions for Giant Marine Carbonate Oil/Gas Fields to Form in Sichuan, Tarim Basins and the Neighboring Regions" a Key National Oil and Gas Program (Grant No. 2008ZX05004-002)
文摘Well Lundong-1 is located in the periclinal area on the eastern flank of the Tahe-Lunnan paleo-uplift in the Tarim Basin. A 25-m-high cave fill sequence was observed in the Upper Ordovician interval of the well at 6800-6825m. A third cut of cores was obtained from the top of the cave. The following conclusions were obtained by studying the cave sediments and depositional sequence, and by undertaking paleontological and elemental geochemistry analyses. 1. The cave sediments contain abundant brachiopod, gastropod, echinoderm, ostracod, and acritach fossils, which can be classified into two groups: cave autochthonous and cave allochthonous fossils (from collapse breccia dissolution or transportation by underflow). The fossils indicate that the cave was formed before the Carboniferous and partly-filled and buried during Carboniferous resubsidence. 2. Elemental geochemistry shows that the mud that filled the cave is sourced from calcareous paleo-soil and weathered crust that came from a salty environment with poor water circulation. 3. The formation and evolution of the cave occurred in three stages. The first stage occurred after the deposition of the Late Ordovician Lianglitage Formation, the second stage took place after the deposition of the Late Ordovician Sangtamu Formation, and the last stage happened after Silurian deposition. Major dissolution occurred in the latter two stages as a result of bedding-confined deep underflow karstification. Based on the reconstruction of the cave formation history, favorable paleokarst targets can be predicted and estimated to aid paleogeography and paleokarstology studies.
