阿尔茨海默病唾液诊断生物标志物的研究进展

阿尔茨海默病(Alzheimer’s disease,AD)是一种常见的痴呆类型,属于不可逆的中枢神经系统退行性疾病类别,是老年人中常见的神经变性疾病,该疾病以认知障碍为主要临床表现。目前全球超过5 500万人患有痴呆,预测到2030年这一数字将达到8 200万[1],其中AD患者人数约占所有痴呆病例的70%[2],在中国AD的年龄标化发病率为(56.47~207.08)/10万[3]。此外,据世界阿尔茨海默病报告估计全球75%的痴呆症患者没有得到诊断,作为痴呆主要原因的AD,也因此在医学界备受关注。

Cytological and Molecular Identification of Alien Chromatin in Giant Spike Wheat Germplasm

Alien chromosomes of twelve giant spike wheat germplasm lines were identified by C-banding, genomic in situ hybridization (GISH), sequence characterized amplified region (SCAR), and random amplified polymorphic DNA (RAPD). All lines showed a chromosome number of 2n = 42, five of them carried both a pair of wheat-rye (Triticum aestivum-Secale cereal) 1BL/1RS translocation chromosomes and a pair of Agropyron intermedium (Ai) chromosomes, three carried a pair of Ai chromosomes only, three others carried a pair of 1BL/1RS chromosomes only, and one carried neither 1BL/1BS nor Ai chromosome. Further identification revealed that the identical Ai chromosome in these germplasm lines substituted the chromosome 2D of common wheat (T aestivum L.), designated as 2Ai. The genetic implication and further utilization of 2Ai in wheat improvement were also discussed.

Genetics of hepatocellular carcinoma

The completely assembled human genome has made it possible for modern medicine to step into an era rich in genetic information and high-throughput genomic analysis. These novel and readily available genetic resources and analytical tools may be the key to unravel the molecular basis of hepatocellular carcinoma (HCC). Moreover, since an efficient treatment for this disease is lacking, further understanding of the genetic background of HCC will be crucial in order to develop new therapies aimed at selected targets. We report on the current status and recent developments in HCC genetics. Special emphasis is given to the genetics and regulation of major signalling pathways involved in HCC such as p53, Wnt- signalling, TGFβ, Ras, and Rb pathways. Furthermore, we describe the influence of chromosomal aberrations as well as of DNA methylation. Finally, we report on the rapidly developing field of genomic expression profiling in HCC, mainly by microarray analysis.

Investigations and thoughts of the ethics in genetic discrimination

A questionnaire research in ethics was conducted to get the view of students of medical universities in Shanghai on genomics and genetic discrimination. We find that 66% respondents indicated their willingness to understand the genetic information and 79% of respondents mind their own genetic information be aware of by other people. In contrast, 77% of the respondents believe that medical organization are not able to protect personal genetic information from disclose. Hence, it is significant to take some measures to preserve citizen's genetic information privacy. Depending on our results, we put forward our suggestion to this problem.

A new model of corporate DNA

This paper has researched on six kinds of the corporate DNA models, which have set up and analyzed its limitations, regarded the corporation as a vital organism, and put forward the judging standard for corporate DNA by analogism. According to the standard, the components of the corporate DNA are judged and a new model has been established. The corporate DNA is composed of four DNA chains, which overlap and intercross in the model. Based on the new model, the concept of the corporate central dogma is put forward. The element and information transmission way of corporate information are discussed in the corporate central dogma.

Methods Comparison for Microsatellite Marker Development:Different Isolation Methods,Different Yield Efficiency

Microsatellite markers have become one kind of the most important molecular tools used in various researches. A large number of microsatellite markers are required for the whole genome survey in the fields of molecular ecology,quantitative genetics and genomics. Therefore,it is extremely necessary to select several versatile,low-cost,efficient and time-and labor-saving methods to develop a large panel of microsatellite markers. In this study,we used Zhikong scallop(Chlamys farreri) as the target species to compare the efficiency of the five methods derived from three strategies for microsatellite marker development. The results showed that the strategy of constructing small insert genomic DNA library resulted in poor efficiency,while the microsatellite-enriched strategy highly improved the isolation efficiency. Although the mining public database strategy is time-and cost-saving,it is difficult to obtain a large number of microsatellite markers,mainly due to the limited sequence data of non-model species deposited in public databases. Based on the results in this study,we recommend two methods,microsatellite-enriched library construction method and FIASCO-colony hybridization method,for large-scale microsatellite marker development. Both methods were derived from the microsatellite-enriched strategy. The experimental results obtained from Zhikong scallop also provide the reference for microsatellite marker development in other species with large genomes.

Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy

Spinal muscular atrophy （SMA） is a disorder characterized by degeneration of lower motor neurons and occasionally bulbar motor neurons leading to progressive limb and trunk paralysis as well as muscular atrophy. Three types of SMA are recognized depending on the age of onset, the maximum muscular activity achieved, and survivorship： SMA1, SMA2, and SMA3. The survival of motor neuron （SMN） gene has been identified as an SMA determining gene, whereas the neuronal apoptosis inhibitory protein （NAlP） gene is considered to be a modifying factor of the severity of SMA. The main objective of this study was to analyze the deletion of SMN1 and NAIP genes in southern Chinese children with SMA. Here, polymerase chain reaction （PCR） combined with restriction fragment length polymorphism （RFLP） was performed to detect the deletion of both exon 7 and exon 8 of SMN1 and exon 5 of NAIP in 62 southern Chinese children with strongly suspected clinical symptoms of SMA. All the 32 SMA1 patients and 76% （13/17） of SMA2 patients showed homozygous deletions for exon 7 and exon 8, and all the 13 SMA3 patients showed single deletion of SMNI exon 7 along with 24% （4/17） of SMA2 patients. Eleven out of 32 （34%） SMA1 patients showed NAIP deletion, and none of SMA2 and SMA3 patients was found to have NA1P deletion. The findings of homozygous deletions ofexon 7 and/or exon 8 ofSMN1 gene confirmed the diagnosis of SMA, and suggested that the deletion ofSMN1 exon 7 is a major cause of SMA in southern Chinese children, and that the NAIP gene may be a modifying factor for disease severity of SMAI. The molecular diagnosis system based on PCR-RFLP analysis can conveniently be applied in the clinical testing, genetic counseling, prenatal diagnosis and preimplantation genetic diagnosis of SMA.

Detecting polygenic selection in marine populations by combining population genomics and quantitative genetics approaches

Highly fecund marine species with dispersive life-history stages often display large population sizes and wide geographic distribution ranges. Consequently, they are expected to experience reduced genetic drift, efficient selection fueled by frequent adaptive mutations, and high migration loads. This has important consequences for understanding how local adaptation proceeds in the sea. A key issue in this regard, relates to the genetic architecture underlying fitness traits. Theory predicts that adaptation may involve many genes but with a high variance in effect size. Therefore, the effect of selection on allele frequencies may be substantial for the largest effect size loci, but insignificant for small effect genes. In such a context, the performance of population genomic methods to unravel the genetic basis of adaptation depends on the fraction of adaptive genetic variance explained by the cumulative effect of outlier loci. Here, we address some methodological challenges associated with the detection of local adaptation using molecular approaches. We provide an overview of genome scan methods to detect selection, including those assuming complex demographic models that better describe spatial population structure. We then focus on quantitative genetics approaches that search for genotype-phenotype associations at different genomic scales, including genome-wide methods evaluating the cumulative effect of variants. We argue that the limited power of single locus tests can be alleviated by the use of polygenic scores to estimate the joint contribution of candidate variants to phenotypic variation.

Impact of the next-generation sequencing data depth on various biological result inferences

Next-generation sequencing(NGS) technologies have revolutionized the field of genomics and provided unprecedented opportunities for high-throughput analysis at the levels of genomics,transcriptomics and epigenetics.However,the cost of NGS is still prohibitive for many laboratories.It is imperative to address the trade-off between the sequencing depth and cost.In this review,we will discuss the effects of sequencing depth on the detection of genes,quantification of gene expression and discovering of gene structural variants.This will provide readers information on choosing appropriate sequencing depth that best meet the needs of their particular project.

Hv-SEMIGROUP STRUCTURE ON F2-OFFSPRING OF A GENE POOL

Mendel, the father of genetics took the first steps in defining ＂contrasting characters, genotypes in F1 and F2... and setting different laws＂. The genotypes of F2 is dependent on the type of its parents genotype and it follows certain roles. Purpose of this paper is to analyze the second generation genotypes of monohybrid and a dihybrid with a mathematical structure. We use the concept of Hv-semigroup structure in the F2-genotypes with cross oper- ation and prove that this is an Hv-semigroup. We determine the kinds of number of the Hv-subsemigroups of F2-genotypes.