The genetics of cataract

This article reviews: 1) the clinical and pathological features of the different types of catarct, 2) the patterns of inheritance of cataract, 3) the genes that may be associated with the development of cataract, and 4) how the presence of abnormal genes may cause lens opacity.

The genetics of glaucoma

The present article reviews the patterns of inheritance associated with glaucoma, how the genes linked to the disease have been located and identified, and considers how the effect of some of these genes could lead to glaucoma.

Genetics of optic atrophy: recent progress in understanding

This article considers the clinical symptoms associated with hereditary optic atrophy and reviews recent progress in our understanding the genetics of the disorder. The major genes linked to optic atrophy are identified and how defects in these genes could lead to the optic disc pathology is discussed.

The genetics of primary congenital glaucoma

One of the objectives of the molecular biological study of glaucoma is to establish how the disease develops as a result of the production of aberrant gene products. Many of the genes associated with glaucoma code for proteins which are likely to be directly or indirectly involved in the development and/or function of cells within the trabecular meshwork. The identification of specific defects in these genes is likely to lead to a better understanding of the mechanisms involved in PCG and glaucoma in general and to the development of alternative therapies to surgery. The CYP1B1 gene in particular, which is a linked to congenital glaucoma, and is expressed in the trabecular meshwork, codes for a member of the cytochrome P450 group of proteins. These iron binding proteins constitute a family of enzymes involved in the processes of xenobiotic metabolism, growth, and development. The discovery of the CYP1B1 gene in PCG emphases the importance of abnormalities in the molecular structure of proteins expressed in cells of the trabecular network as a cause of PCG. The identification of specific genetic defects leads to the possibility of more widespread screening for PCG especially in affected families and hence, the possibility of the identification of asymptomatic carriers of the disease. Early identification of 'at risk' parents may then enable earlier detection of PCG and intervention in the infant.

Genetics of ocular disease Part 1: Basic concepts: cells, chromosomes and inheritance

This series of articles describes the basic elements of genetics necessary to understand the new advances and the impact these advances will have on the study and treatment of ocular disease. The first article describes the patterns of inheritance of human characteristics, how they are transmitted between the generations and the structure of chromosomes.

Genetics of ocular disease Part 2: Basic concepts: DNA, proteins and genes

This article on the basic concepts of genetics concentrates on doeoxyribose nucleic acid (DNA), the chemical constituent of the genes. First, it will cover how DNA was discovered to be the substance of the genes. Second, the structure of DNA is revealed together with how DNA molecules can make copies of themselves. Third, the nature of the genetic code contained in DNA and how this code directs the manufacture of proteins is described. Finally, the effects of mutation of the genes and how the activities of genes are regulated will be discussed together with the relevance of these concepts to ocular disease.

Genetics of ocular disease Part 3: Patterns of inheritance of ocular disease

The objective of this article is to describe the patterns of inheritance exhibited in the human populations and to illustrate them with examples drawn from a variety of ocular diseases.

Genetics of ocular disease part 4: New developments in genetics

The objective of the final artcile in this series is to describe how recent developments in genetics are likely to imact the diagnosis, scientific understanding, and future treatment of ocular disease.

The genetics of glaucoma

This article reviews the patterns of inheritance associated with glaucoma, how the genes linked to glaucoma have been located and identified and considers how the effect of some of these genes could lead to glaucoma.

Organizational and textual structuring of radio news discourse in English and Arabic.

The present work studies the overall structuring of radio news discourse via investigating three metatextual/interactive functions: (1) Discourse Organizing Elements (DOEs), (2) Attribution and (3) Sentential and Nominal Background Information (SBI & NBI). An extended corpus of about 73,000 words from BBC and Radio Damascus news is used to study DOEs and a restricted corpus of 38,000 words for Attribution and S & NBI. A situational approach is adopted to assess the influence of factors such as medium and audience on these functions and their frequence. It is found that: (1) DOEs are organizational and their frequency is determined by length of text; (2) Attribution Function in accordance with the editor's strategy and its frequency is audience sensitive; and (3) BI provides background information and is determined by audience and news topics. Secondly, the salient grammatical elements in DOEs are discourse deictic demonstratives, address pronouns and nouns referring to `the news'. Attribution is realized in reporting/reported clauses, and BI in a sentence, a clause or a nominal group. Thirdly, DOEs establish a hierarchy of (1) news, (2) summary/expansion and (3) item: including topic introduction and details. While Attribution is generally, and SBI solely, a function of detailing, NBI and proper names are generally a function of summary and topic introduction. Being primarily addressed to audience and referring metatextually, the functions investigated support Sinclair's interactive and autonomous planes of discourse. They also shed light on the part(s) of the linguistic system which realize the metatextual/interactive function. Strictly, `discourse structure' inevitably involves a rank-scale; but news discourse also shows a convention of item `listing'. Hence only within the boundary of variety (ultimately interpreted across language and in its situation) can textual functions and discourse structure be studied. Finally, interlingual variety study provides invaluable insights into a level of translation that goes beyond matching grammatical systems or situational factors, an interpretive level which has to be described in linguistic analysis of translation data.

Cues to deception in a textual narrative context:lying in written witness statements

Little research has been undertaken into high stakes deception, and even less into high stakes deception in written text. This study addresses that gap. In this thesis, I present a new approach to detecting deception in written narratives based on the definition of deception as a progression and focusing on identifying deceptive linguistic strategy rather than individual cues. I propose a new approach for subdividing whole narratives into their constituent episodes, each of which is linguistically profiled and their progression mapped to identify authors’ deceptive strategies based on cue interaction. I conduct a double blind study using qualitative and quantitative analysis in which linguistic strategy (cue interaction and progression) and overall cue presence are used to predict deception in witness statements. This results in linguistic strategy analysis correctly predicting 85% of deceptive statements (92% overall) compared to 54% (64% overall) with cues identified on a whole statement basis. These results suggest that deception cues are not static, and that the value of individual cues as deception predictors is linked to their interaction with other cues. Results also indicate that in certain cue combinations, individual self-references (I, Me and My), previously believed to be indicators of truthfulness, are effective predictors of deceptive linguistic strategy at work

The readability of textual materials in biology

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Ecological genetics of Melaleuca quinquenervia (Myrtaceae): Population variation in Florida and its influence on performance of the biological control agent Oxyops vitiosa (Coleoptera: Curculionidae)

Melaleuca quinquenervia (Cav.) Blake (Myrtaceae) was imported into Florida from Australia over a century ago as a landscape plant. A favorable climate and periodic wildfires helped M. quinquenervia thrive; it now occupies about 200,000 hectares in southern Florida. A biological control (i.e., biocontrol) program against M. quinquenervia has been initiated, but not all biocontrol releases are successful. Some scientists have argued that poor biocontrol agent success may relate to genetic differences among populations of invasive weeds. I tested this premise by determining (1) the number and origins of M. quinquenervia introductions into Florida, (2) whether multiple introduction events resulted in the partitioning of Florida's M. quinquenervia populations into discrete biotypes, and (3) whether Oxyops vitiosa, an Australia snout beetle imported to control this weed, might discriminate among putative M. quinquenervia biotypes. Careful scrutiny of early horticultural catalogs and USDA plant introduction records suggested at least six distinct introduction events. Allozyme analyses indicated that the pattern of these introductions, and the subsequent redistribution of progeny, has resulted in geographic structuring of the populations in southern Florida. For example, trees on Florida's Gulf Coast had a greater effective number of alleles and exhibited greater heterozygosity than trees on the Atlantic Coast. Essential oil yields from M. quinquenervia leaves followed a similar trend; Gulf Coast trees yielded nearly twice as much oil as Atlantic Coast trees when both were grown in a common garden. These differences were partially explained by the predominance of a chemical phenotype (chemotype) very rich in the sesquiterpene (E)-nerolidol in M. quinquenervia trees from the Gulf Coast, but rich in a mixture of the monoterpene 1,8-cineole and the sesquiterpene viridiflorol in trees from the Atlantic Coast. Performance of O. vitiosa differed dramatically in laboratory studies depending on the chemotype of the foliage they were fed. Larval survivorship was four-fold greater on the (E)-nerolidol chemotype. Growth was also greater, with adult O. vitiosa gaining nearly 50% more biomass on the (E)-nerolidol plants than on the second chemotype. The results of this study thus confirmed the premise that plant genotype can affect the population dynamics of insects released as weed biocontrols. ^

Mitochondrial DNA, segments I and II, its applications in population genetics and forensic sciences

The investigations of human mitochondrial DNA (mtDNA) have considerably contributed to human evolution and migration. The Middle East is considered to be an essential geographic area for human migrations out of Africa since it is located at the crossroads of Africa, and the rest of the world. United Arab Emirates (UAE) population inhabits the eastern part of Arabian Peninsula and was investigated in this study. Published data of 18 populations were included in the statistical analysis. The diversity indices showed (1) high genetic distance among African populations and (2) high genetic distance between African populations and non-African populations. Asian populations clustered together in the NJ tree between the African and European populations. MtDNA haplotypes database of the UAE population was generated. By incorporating UAE mtDNA dataset into the existing worldwide mtDNA database, UAE Forensic Laboratories will be able to analyze future mtDNA evidence in a more significant and consistent manner. ^