A high-resolution survey of deletion polymorphism in the human genome

Recent work has shown that copy number polymorphism is an important class of genetic variation in human genomes. Here we report a new method that uses SNP genotype data from parent-offspring trios to identify polymorphic deletions. We applied this method to data from the International HapMap Project to produce the first high-resolution population surveys of deletion polymorphism. Approximately 100 of these deletions have been experimentally validated using comparative genome hybridization on tiling-resolution oligonucleotide microarrays. Our analysis identifies a total of 586 distinct regions that harbor deletion polymorphisms in one or more of the families. Notably, we estimate that typical individuals are hemizygous for roughly 30-50 deletions larger than 5 kb, totaling around 550-750 kb of euchromatic sequence across their genomes. The detected deletions span a total of 267 known and predicted genes. Overall, however, the deleted regions are relatively gene-poor, consistent with the action of purifying selection against deletions. Deletion polymorphisms may well have an important role in the genetics of complex traits; however, they are not directly observed in most current gene mapping studies. Our new method will permit the identification of deletion polymorphisms in high-density SNP surveys of trio or other family data.     

A copy number variation morbidity map of developmental delay

To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) to CNVs in 8,329 unaffected adult controls. We estimate that ～14.2% of disease in these children is caused by CNVs >400 kb. We observed a greater enrichment of CNVs in individuals with craniofacial anomalies and cardiovascular defects compared to those with epilepsy or autism. We identified 59 pathogenic CNVs, including 14 new or previously weakly supported candidates, refined the critical interval for several genomic disorders, such as the 17q21.31 microdeletion syndrome, and identified 940 candidate dosage-sensitive genes. We also developed methods to opportunistically discover small, disruptive CNVs within the large and growing diagnostic array datasets. This evolving CNV morbidity map, combined with exome and genome sequencing, will be critical for deciphering the genetic basis of developmental delay, intellectual disability and autism spectrum disorders.     

废纸脱墨纸浆中荧光增白剂的去除及其机理研究

探讨了在纸浆的漂白过程中去除废纸脱墨纸浆中荧光增白剂的可行性,并对其去除机理进行研究,研究结果表明,在脱墨纸浆的漂白过程中,Ｈ２Ｏ２漂剂可以提高脱墨纸浆的白度,但不能有效去除浆中的荧光增白剂．氯漂剂可以有效去除浆中的增白剂,但在本试验的碱性条件下,经其漂白处理后纸浆的白度下降,在ＣｌＯ２漂白脱墨纸浆时,ＣｌＯ２可以氧化纸浆中的荧光增白剂,使其降解为酸类物质,从而使浆中的荧光增白剂得到去除。     

A method for relocation of specified regions in tissue culture dishes

Summary An apparatus and method are described which facilitate the rapid and accurate visual relocation of specified areas within ordinary, circular, plastic petri-dishes.     

Life choices simulation: Model and methodology

The life choices stimulation (LCS) is a computer-managed simulation which permits participants to explore the impact of decision making in an extended time frame. It is designed primarily for individuals who wish to explore a variety of possible futures and to develop an appreciation for the complexity of relationships and career planning. A general systems approach was used to design a model of complexity within the simulation. “Situation” scenarios were developed to represent common life experiences to which the participant must respond (such as single parenting, divorce, career choice, and old age). The realism of the simulation is provided by a supporting data base which includes such data points as average income of male and female workers, types of employment and their salary levels, and time unit allowances for life-style choices. These data are kept current and are used to generate the results of various choices. This paper describes the process of simulation development, outlines the LCS, and suggests research uses.     

Modern systematics and environmental significance of stable isotopic variations in Wanxiang Cave, Wudu, Gansu, China

This paper presents the stable isotopic compositions from the cave dripwater and actively forming soda straw stalactites collected from Wanxiang Cave, Wudu, Gansu, located on the Qinghai-Tibetan Plateau and Loess Plateau transition zone, China. The δ^18Odw and δDdw of dripwater samples in the cave plot directly on the local MWL, constructed by using GNIP data from 3 sites surrounding the cave regions (Lanzhou, Xi‘an, and Chengdu), the nearest site to the cave, suggesting that there is a close relationship be-tween the δ^18Odw of the cave water and the δ^18O of the pre-cipitations. Using the measured δ^18Odw and δ^18Omc values from the mid-farthest parts from the cave entrance and the carbonate paleotemperature equation, the calculated temperatures range from 8.9 to 12.4℃, with the mean value of 10.7℃ and the temperature calculated at 8 locations in the farthest part of the cave is in the range of 10.I--12.4℃, with the mean value of 11.5℃, being consistent with the survey value(10.99℃)in the cave, slightly lower than the mean annual temperature (14.4℃) in Wudu. This suggests that modern speleothems are forming under isotopic equilibrium and their isotopic composition accurately reflects the mean annual temperature at the surface, indicating that the isotopic composition of the modern speleothems records local temperature change with credibility.     

Mass mortality of salamanders ( Ambystoma tigrinum ) by bacteria ( Acinetobacter ) in an oligotrophic seepage mountain lake

Of the 13 lakes in the central Wasatch Mountains with tiger salamander ( Ambystoma tigrinum ) populations, salamander mass mortalities occurred in four seepage lakes that experienced extensive lowering of the water levels during the summer. The largest of these lakes, the oligotrophic Desolation Lake, was studied to determine the cause of the mortality phenomenon. The recurrent annual mass mortality involved both breeding adults and young-of-the-year. Rate kinetics suggest that mortality rate doubles with a fivefold increase in the number of aquatic young salamanders. The proximate cause of the mass mortality was identified as a bacterium, Acinetobacter sp. Desolation Lake and a seepage lake that did not experience the mass mortality were studied for the presence of Acinetobacter . Both lakes experienced two bacteria cycles: the first in early summer involved gram-positive bacteria, and the second in late summer involved gram-negative bacteria (mostly coliform bacteria and Acinetobacter ). The mass mortalities were associated with the late-summer gram-negative bacterial bloom, and Acinetobacter was found in large numbers in Desolation Lake. Algae, as well as other photosynthetic plants, were not present in large numbers. Since these lakes are growth-limited with respect to nitrogen and not with respect to phosphate, and since Desolation Lake had extensive lowering of the lake level during the summer, the biological cycle of the lake is proposed to be due to atmospheric and sheep-produced nitrogen products within the watershed. In this unstable lake system, bacteria are primarily responsible for incorporation of nitrogen in the food chain. The timing of the cyclical events depends on total winter precipitation.     

Asian summer monsoon precipitation recorded by stalagmite oxygen isotopic composition in the western Loess Plateau during AD1875―2003 and its linkage with ocean-atmosphere system

Based on 5 high-precision ^230Th dates and 103 stable oxygen isotope ratios （51eO） obtained from the top 16 mm of a stalagmite collected from Wanxiang Cave, Wudu, Gansu, variation of monsoonal precipitation in the modern Asian Monsoon （AM） marginal zone over the past 100 years was reconstructed. Comparison of the speleothem δ^18O record with instrumental precipitation data at Wudu in the past 50 years indicates a high parallelism between the two curves, suggesting that the speleothem δ^18O is a good proxy for the AM strength and associated precipitation, controlled by ＂amount effect＂ of the precipitation. Variation of the monsoonal precipitation during the past 100 years can be divided into three stages, increasing from AD 1875 to 1900, then decreasing from AD 1901 to 1946, and increasing again thereafter. This variation is quite similar to that of the Drought/Flooding index archived from Chinese historical documents. This speleothem-derived AM record shows a close association with the Pacific Decadal Oscillation （PDO） between AD 1875 and 1977, with higher monsoonal precipitation corresponding to cold PDO phase and vice versa at decadal timescale. The monsoonal precipitation variation is out of phase with the PDO after AD 1977, probably resulting from the decadal climate jump in the north Pacific occurring at around AD 1976/77. These results demonstrate a strong linkage between the AM and associated precipitation and the Pacific Ocean via ocean/atmosphere interaction. This relationship will aid to forecast future hydrological cycle for the AM monsoon region, and to improve forecasting potential of climatic model with observation data from cave.