Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14

BACKGROUND: Familial isolated hyperparathyroidism (FIHP) is an autosomal dominantly inherited form of primary hyperparathyroidism. Although comprising only about 1% of cases of primary hyperparathyroidism, identification and functional analysis of a causative gene for FIHP is likely to advance our understanding of parathyroid physiology and pathophysiology. METHODS: A genome-wide screen of DNA from seven pedigrees with FIHP was undertaken in order to identify a region of genetic linkage with the disorder. RESULTS: Multipoint linkage analysis identified a region of suggestive linkage (LOD score 2.68) on chromosome 2. Fine mapping with the addition of three other families revealed significant linkage adjacent to D2S2368 (maximum multipoint LOD score 3.43). Recombination events defined a 1.7 Mb region of linkage between D2S2368 and D2S358 in nine pedigrees. Sequencing of the two most likely candidate genes in this region, however, did not identify a gene for FIHP. CONCLUSIONS: We conclude that a causative gene for FIHP lies within this interval on chromosome 2. This is a major step towards eventual precise identification of a gene for FIHP, likely to be a key component in the genetic regulation of calcium homeostasis.

Penology from city to country: Rurality and penality in Australia

There is a long tradition of social inquiry concerned with locational patterns and place-based explanations of crime in which urban/rural differences have been regarded as of cardinal importance. The geographical and socio-spatial aspects of punishment have on the other hand been widely neglected. One reason for this is that cities have been treated as the site of the major crime problems, presenting a contrast with what are commonly assumed (often without careful empirical research) to be the naturally cohesive character of rural communities. Thus punishment, like crime, is not a significant or distinctive issue in rural communities, requiring the attention of criminologists. But just as there are significant and distinctive dimensions to rural crime, the practice of punishment in rural contexts raises important questions worthy of attention. These questions relate to (1) the demand for punishment (i.e. the penal sensibilities to be found in rural communities); (2) the supply of punishment according to principles of legal equality (notably the question of the effective availability in rural courts of the full range of penalties administered by urban courts, in particular alternatives to incarceration); and (3) the differential impact of the same penalties when imposed in different geographical settings (e.g. imprisonment may involve distant removal from an offender’s community in addition to segregation from it; license disqualification is a great deal more consequential in settings where public transport is unavailable). The chapter examines these questions by reference to available knowledge concerning patterns of punishment in rural Australia. This will be set against the background of an analysis of the differential social organisation of penality in rural and urban settings. The generally more attenuated nature of the social state and social provision in rural contexts can, depending upon the profile of particular communities (and in particular their degree of social homogeneity), produce very different penal consequences: more heavy reliance on the penal state on the one hand, or greater recourse to informal social controls on the other.