Learning to be literate in Aboriginal communities: The significance of text

In Australia the model of reading outlined in many syllabus documents and the Australian National Curriculum: English acknowledges that reading is a socio-cultural practice and that both the contexts of culture and situation define the meanings individual students will make when approaching a given text. The difficulty of any given text therefore varies for individual students, depending not only on their skills but their understandings about the cultural context and the situation in which they encounter the text. Many students might find school a “natural setting” in which to learn, and may therefore be acquiring knowledge at school because their understandings about language and education predispose them to learning in such an environment. Many Aboriginal children however, do not find their understandings of language and culture reflected in the school environment. The purpose of this multi-site case study was to better understand the significance of authentic local texts in the teaching of reading in four Aboriginal communities. The project that formed the basis of this case study, was the development of the One Mob books community writers kit, aimed at creating local books in these four communities and involving teachers, community workers and members of the local community. The role of story for Aboriginal children and the importance of the local community in becoming literate were central features of the research findings. Under achievement in literacy was identified as a barrier to educational success in each context. Sharing local stories and language provided the Aboriginal communities with a positive way to interact with the school community, to engage their own and other children in their history and culture and to support their children’s literacy learning

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

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An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1).

Autosomal dominant North Carolina macular dystrophy (NCMD) or central areolar pigment epithelial dystrophy (CAPED) is an allelic disorder that maps to an approximately 7.2 cM interval between DNA markers at D6S424 and D6S1671 on 6q14-q16.2. The further refinement of the disease locus has been hindered by the lack of additional recombination events involving the critical region. In this study, we have identified three multigeneration families of German descent who express the NCMD phenotype. Genotyping was carried out with a series of markers spanning approximately 53 cM around the NCMD locus, MCDR1. Genetic linkage between the markers and the disease phenotype in each of the families could be shown. Disease associated haplotypes were constructed and provide evidence for an ancestral founder for the German NCMD families. This haplotype analysis suggests that a 4.0 cM interval flanked by markers at D6S249 and D6S475 harbours the gene causing NCMD, facilitating further positional cloning approaches

Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene

A human aniridia candidate (AN) gene on chromosome 11p13 has been cloned and characterized. The AN gene is the second cloned gene of the contiguous genes syndrome WAGR (Wilms' tumor, aniridia, genitourinary malformations, mental retardation) on chromosome 11p13, WT1 being the first gene cloned. Knowledge about the position of the AN and WT1 genes on the map of 11p13 makes the risk assessment for Wilms' tumor development in AN patients possible. In this study, we analyzed familial and sporadic aniridia patients for deletions in 11p13 by cytogenetic analyses, in situ hybridization, and pulsed field gel electrophoresis (PFGE). Cytogenetically visible deletions were found in 3/11 sporadic AN cases and in one AN/WT patient, and submicroscopic deletions were identified in two sporadic AN/WT patients and in 1/9 AN families. The exact extent of the deletions was determined with PFGE and, as a result, we could delineate the risk for Wilms' tumor development. Future analyses of specific deletion endpoints in individual AN cases with the 11p13 deletion should result in a more precise risk assessment for these patient