抗原变异可使得多种致病微生物易于逃避宿主免疫应答。表达在感染红细胞表面的恶性疟原虫红细胞表面蛋白1（PfPMP1）与感染红细胞、内皮细胞、树突状细胞以及胎盘的单个或多个受体作用，在黏附及免疫逃避中起关键的作用。每个单倍体基因组var基因家族编码约60种成员，通过启动转录不同的var基因变异体为抗原变异提供了分子基础。

疟原虫var基因转换速率变化导致抗原变异[英]／Paul H, Robert P, Christodoulou Z, et al//Proc Natl Acad Sci U S A

http://ggdpathway.wustl.edu/files/2014/08/ACMG-Guidelines-2015_Richards-et-al.pdf

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

We present here a framework for the study of molecular variation within a single species. Information on DNA haplotype divergence is incorporated into an analysis of variance format, derived from a matrix of squared-distances among all pairs of haplotypes. This analysis of molecular variance (AMOVA) produces estimates of variance components and F-statistic analogs, designated here as phi-statistics, reflecting the correlation of haplotypic diversity at different levels of hierarchical subdivision. The method is flexible enough to accommodate several alternative input matrices, corresponding to different types of molecular data, as well as different types of evolutionary assumptions, without modifying the basic structure of the analysis. The significance of the variance components and phi-statistics is tested using a permutational approach, eliminating the normality assumption that is conventional for analysis of variance but inappropriate for molecular data. Application of AMOVA to human mitochondrial DNA haplotype data shows that population subdivisions are better resolved when some measure of molecular differences among haplotypes is introduced into the analysis. At the intraspecific level, however, the additional information provided by knowing the exact phylogenetic relations among haplotypes or by a nonlinear translation of restriction-site change into nucleotide diversity does not significantly modify the inferred population genetic structure. Monte Carlo studies show that site sampling does not fundamentally affect the significance of the molecular variance components. The AMOVA treatment is easily extended in several different directions and it constitutes a coherent and flexible framework for the statistical analysis of molecular data.

/pdf/analysis-of-molecular-variance-inferred-from-metric-89hl32sg7j.pdf

Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data.

Statistical method for testing the neutral mutation hypothesis by DNA polymorphism.

The present application describes methods for the testing of compounds of potential usefulness as therapeutic antioxidants and/or as therapeutic free radical scavengers The animal model for testing such compounds is the Sod2CJE homozygous Manganese Superoxide Dismutase-deficient mouse When pups of these mice are treated with certain antioxidants, they survive past about 7 days of age, and later develop characteristic histological changes and characteristic neurobehavioral disorders Those treated mice can be further treated with test compounds which may or may not cross the blood brain barrier, and the life span and physical and neurobehavioral characteristics of those mice provide information about the potential utility of the test compound as a therapeutic antioxidant Phenotypes of the treated mice allow conclusions regarding targeted areas of the brain and thus, applications to particular disorders such as Parkinsonism

Methods for identifying compounds as antioxidants

Complete hydatidiform moles contain only paternal chromosomes. To learn more of their origin, we used restriction endonuclease site polymorphisms found in the parental mitochondrial DNAs to demonstrate that moles contain exclusively maternal mitochondrial DNA. Thus, moles must arise from the fusion of one or two sperm with a mature but anucleate ovum.

Complete moles have paternal chromosomes but maternal mitochondrial dna

We have developed the Georgia Tech Emory Networked Object Management Environment (GENOME). GENOME is a prototype database management system (DBMS)/user interface system designed to manage complex biological data, allowing users to more fully analyze and understand relationships in human genome data. The system is designed to allow the establishment of a network of searchable data sources. The DBMS portion of the environment is a hybrid object-relational system which interprets its data structures on-they, resulting in an extremely exible DBMS. Such a DBMS provides an environment for interrelating distributed data items, allowing users to further explore computational questions in biomedical science in addition to other elds by maximizing access to data. In developing GENOME, we used MITOMAP, a human mitochondrial genome database, as a model genomic database. MITOMAP encompasses one of the most complete collections of genomic data available for a speci c locus or chromosome, including functional, population variation, disease mutation, and gene-gene interaction data, as well as complete sequence data for the human mitochondrial chromosome, and thus serves as an excellent model system. An e ective DBMS is required for handling the plethora of Human Genome Project data to handle the various locus-speci c databases and ultimately to unify all human genetic and biomedical information through the complete human genome sequence. Developing such a DBMS is our goal. We expect that GENOME will be generally applicable to other biological and non biological paradigms as well.

GENOME: A Networked Database Environment for Human Genome Data

Mitochondrial Etiology of Psychiatric Disorders-Reply.

We have developed an inexpensive yet versatile microcomputer-based system for quantitating light intensity levels in autoradiographs. This system employs a standard video camera interfaced to an analog-to-digital convertor. A program has been written for this system which can measure intensities within a defined region of an autoradiograph, permitting an easy and accurate quantitation of spots or bands of irregular shape.

Douglas C. Wallace

Papers

Methods for identifying compounds as antioxidants

Complete moles have paternal chromosomes but maternal mitochondrial dna

GENOME: A Networked Database Environment for Human Genome Data

Mitochondrial Etiology of Psychiatric Disorders-Reply.

The use of microcomputers for the quantitation of light intensity patterns using digitized video signals.