Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia

Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of the urea cycle mapped to chromosome Xp21.1. Here, we show that apparent segregation of null alleles at the OTC locus and flanking polymorphic loci mimicked false maternity or false paternity in three affected families. Based on these observations, we suggest giving consideration to gene deletion when dealing with segregation of null alleles in OTC deficiency.     

Social synchronization of the activity rhythms of honeybees within a colony

Colonies and isolated bees of the Cape honeybee, Apis mellifera capensis Esch., were observed for evidence of circadian rhythmicity under constant conditions. It was found that colonies develop free-running activity rhythms in self-selected light-dark cycles, which are slightly shorter than 24 h. The periods of the activity rhythms of individual isolated bees were longer than 24 h in self-selected light-dark and constant light, while they were shorter than 24 h in constant darkness. A greater variability in period was found in the isolated bees than in the colonies. When the rhythms of colonies and individual bees from these colonies were measured simultaneously, the activities of the isolated bees drifted with respect to that of the colonies, their period being either longer or shorter than that of their own colony. After 12 days of isolation of individual bees from their colony, all coincidence between the phases of the two rhythms was lost. We conclude that the periods of common activity and common rest of the bees within a colony result from a mutual (social) synchronization of the rhythms of the individual bees.     

How environment and vole behaviour may impact rodenticide bromadiolone persistence in wheat baits after field controls of Arvicola terrestris?

We aimed to evaluate whether environmental factors affect the persistence of bromadiolone in baits in field treatment. Baits were distributed in three soils according to two types of distribution: (1) artificial galleries conform to agricultural practices; (2) storage cavities to mimic bait storage by voles. Persistence was evaluated for 30 days in galleries and 80 days in storage cavities in autumn and spring. The decrease of bromadiolone concentrations was described by a first-order kinetic model. In galleries, the half-lives ranged from 3.0 to 5.1 days in autumn and from 5.4 to 6.2 days in spring. The half-lives were similar between soils and seasons but the pattern of persistence differed lightly for two soils between seasons. Half-lives in storage cavities, 42.7 and 24.6 days in autumn and spring respectively, were longer than in galleries. To conclude, both soil characteristics and climatic conditions weakly influence persistence, while bait storage lengthens it dramatically.     

Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies

The goal to noninvasively detect fetal aneuploidies using circulating cell-free fetal DNA in the maternal plasma seems to be achieved by the use of massively parallel sequencing (MPS). To date, different MPS approaches exist, all aiming to deliver reliable results in a cost effective manner. The most widely used approach is the whole genome MPS method, in which sequencing is performed on maternal plasma to determine the presence of a fetal trisomy. To reduce costs targeted approaches, only analyzing loci from the chromosome(s) of interest has been developed. This review summarizes the different MPS approaches, their benefits and limitations and discusses the implications for future noninvasive prenatal testing. © 2013 John Wiley & Sons, Ltd.