Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21

Familial juvenile hyperuricaemic (gouty) nephropathy (FJHN), is an autosomal dominant disease associated with a reduced fractional excretion of urate, and progressive renal failure. FJHN is genetically heterogeneous and due to mutations of three genes: uromodulin (UMOD), renin (REN) and hepatocyte nuclear factor-1beta (HNF-1β) on chromosomes 16p12, 1q32.1, and 17q12, respectively. However, UMOD, REN or HNF-1β mutations are found in only ~45% of FJHN probands, indicating the involvement of other genetic loci in ~55% of probands. To identify other FJHN loci, we performed a single nucleotide polymorphism (SNP)-based genome-wide linkage analysis, in six FJHN families in whom UMOD, HNF-1β and REN mutations had been excluded. Parametric linkage analysis using a 'rare dominant' model established linkage in five of the six FJHN families, with a LOD score >+3, at 0% recombination, between FJHN and SNPs at chromosome 2p22.1-p21. Analysis of individual recombinants in two unrelated affected individuals defined a ~5.5 Mbp interval, flanked telomerically by SNP RS372139 and centromerically by RS896986 that contained the locus, designated FJHN3. The interval contains 28 genes, and DNA sequence analysis of the most likely candidate, solute carrier family 8 member 1 (SLC8A1), did not identify any abnormalities in the FJHN3 probands. FJHN3 is likely located within a ~5.5 Mbp interval on chromosome 2p22.1-p21, and identifying the genetic abnormality will help to further elucidate mechanisms predisposing to gout and renal failure.

Of tails and Tempests : Feminine sexuality and Shakespearean children's texts

This paper reads a range of nineteenth-century texts for children that retell either Shakespeare's The Tempest or mermaid narratives, considering the models of feminine subjectivity and sexuality that they construct. It then moves on to two key contemporary texts — Disney's film adaptation of The Little Mermaid (Clements and Musker 1989) and Penni Russon's Undine (2004) — that combine the Shakespearean heroine with the mermaid, and reads them against the nineteenth-century models. Ultimately, the essay determines that, while these texts seem to perform a progressive appropriation of the two traditions, they actually combine the most conservative aspects of both The Tempest and mermaid stories to produce authoritative (and dangerously persuasive) ideals of passive feminine sexuality that confine girls within patriarchally-dictated familial positions. The new figure for adolescent female subjectivity, the mermaid-Miranda, becomes in turn a model of identification and aspiration for the implied juvenile consumer.

Safeguarding rural Australia : addressing masculinity and violence in rural settings. Data report no. 5. Consequences of violence - juvenile offenders, long-term health consequences, anxiety and repression, other chronic disabilities

This report considers extant data which have been sourced with respect to some of the consequences of violent acts and incidents and risky behaviour for males living in regional and remote Australia . This has been collated and presented under the headings: juvenile offenders; long-term health consequences; anxiety and repression; and other chronic disabilities. Additional commentary resulting from exploration, examination and analyses of secondary data is published online in complementary reports in this series.

Juvenile justice in Queensland and Canada : new legislation reflecting new directions

Due to their similar colonial histories and common law heritage, Australia and Canada provide an ideal comparative context for examining legislation reflecting new directions in the field of juvenile justice. Toward this end, this article compares the revised juvenile justice legislation which came into force in Queensland and Canada in 2003 (Canada, Youth Criminal Justice Act, enacted on 19 February 2002 and proclaimed in force 1 April 2003; Queensland, Juvenile Justice Act, amended 2003). There are a series of questions that could be addressed including: How similar and how sweeping have been the legislative changes introduced in each jurisdiction?; What are likely to be some of the effects of the implementation of these new legislative regimes?; and, how well does the legislation enacted in either jurisdiction address the fundamental difficulties experienced by children who have been caught up in juvenile justice systems? This article addresses mainly the first of these questions, offering a systematic comparison of recent Queensland and Canadian legislative changes. Although, due to the recentness of these changes, there is no data available to assess long-term effects, anecdotal evidence and preliminary research findings from our comparative study are offered to provide a start at answering the second question. We also offer critical yet sympathetic comments on the ability of legislation to address the fundamental difficulties experienced by children caught up in juvenile justice systems. Specifically, we conclude that while more than simple legislative responses are required to address the difficulties faced by youth offenders, and especially overrepresented Indigenous young offenders, the amended Queensland and new Canadian legislation appear to provide some needed reforms that can be used to help address some of these fundamental difficulties.

Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)

Abstract Causative genetic variants have to date been identified for only a small proportion of familial colorectal cancer (CRC). While conditions such as Familial Adenomatous Polyposis and Lynch syndrome have well defined genetic causes, the search for variants underlying the remainder of familial CRC is plagued by genetic heterogeneity. The recent identification of families with a heritable predisposition to malignancies arising through the serrated pathway (familial serrated neoplasia or Jass syndrome) provides an opportunity to study a subset of familial CRC in which heterogeneity may be greatly reduced. A genome-wide linkage screen was performed on a large family displaying a dominantly-inherited predisposition to serrated neoplasia genotyped using the Affymetrix GeneChip Human Mapping 10 K SNP Array. Parametric and nonparametric analyses were performed and resulting regions of interest, as well as previously reported CRC susceptibility loci at 3q22, 7q31 and 9q22, were followed up by finemapping in 10 serrated neoplasia families. Genome-wide linkage analysis revealed regions of interest at 2p25.2-p25.1, 2q24.3-q37.1 and 8p21.2-q12.1. Finemapping linkage and haplotype analyses identified 2q32.2-q33.3 as the region most likely to harbour linkage, with heterogeneity logarithm of the odds (HLOD) 2.09 and nonparametric linkage (NPL) score 2.36 (P = 0.004). Five primary candidate genes (CFLAR, CASP10, CASP8, FZD7 and BMPR2) were sequenced and no segregating variants identified. There was no evidence of linkage to previously reported loci on chromosomes 3, 7 and 9.

Juvenile justice and truancy legislation : The move towards parental responsibilisation in Queensland

Much current Queensland media rhetoric, government policy and legislation on truancy and youth justice appears to be based on ideas of responsibilisation – of sheeting responsibility for children’s behaviour back onto their parents. This article examines the evidence of parental responsibility provisions in juvenile justice and truancy legislation in Queensland and the drivers behind this approach. It considers recent legislative initiatives as part of an international trend toward making parents ‘responsible’ for the wrongs of their children. It identifies the parental responsibility rhetoric appearing in recent ministerial statements and associated media reports. It then asks the questions – are these legislative provisions being enforced? And if so, are they successful? Are they simply adding to the administrative burdens placed on teachers and schools, and the socioeconomic burdens placed on already disadvantaged parents? Parental responsibility provisions have been discussed at length in the context of juvenile offending and research suggests that punishing parents for the acts of their children does not decrease delinquency. The paper asks how, as a society, we intend to evaluate these punitive measures against parents?