Novel cystatin B mutation and diagnostic PCR assay in an unverricht-lundborg progressive myoclonus epilepsy patient

Two mutations in the cystatin B gene, a 3′ splice mutation and a stop codon mutation, were previously found in patients with progressive myoclonus epilepsy of Unverricht-Lundborg type [Pennacchio et al. (1996): Science 271:1731–1734]. We present here a new mutation 2404δTC: a 2-bp deletion within the third exon of the cystatin B gene in an Unverricht-Lundborg patient. This mutation results in a frameshift and consequently premature termination of protein synthesis. Complete sequencing of the coding region and splice junctions of the cystatin B gene showed that neither of the two previously known mutations was present in this patient. The level of cystatin B mRNA in an immortalized cell line was found to be decreased, as had been reported for other Unverricht-Lundborg patients. The new mutation further supports the argument that defects in the cystatin B gene cause the Unverricht-Lundborg form of progressive myoclonus epilepsy. We describe a simple PCR method which can detect the 2404δTC deletion. This assay, together with previously described PCR assays for the other two known mutations, should prove useful in confirming clinically difficult diagnoses of Unverricht-Lundborg disease. Am. J. Med. Genet. 74:467–471, 1997. © 1997 Wiley-Liss, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38271/1/1_ftp.pd

A Form of Inherited Cerebellar Ataxia with Saccadic Intrusions, Increased Saccadic Speed, Sensory Neuropathy, and Myoclonus

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/72602/1/j.1749-6632.2002.tb02850.x.pd

Mapping of the neural retina leucine zipper gene, Nrl , to mouse Chromosome 14

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/46998/1/335_2004_Article_BF00361397.pd

No association between DFNA6 and Pro250Arg mutation in FGFR3

No abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/34654/1/1_ftp.pd

Relationship between gender and subjective well-being: survey of married couples

Subjective well-being refers to people’s experience and self-reported measures about the quality of their lives, cognitive evaluation of social and economic activities. This evaluation depends on different factors, like income, standards of living, mood, adaptability, expectation on job-to-pay ratio. The importance of gender in this process cannot be underestimated. Based on data obtained by a sociological survey we examined 75 Altai Krai's married couples responses to determine gender differences in subjective well-being, using a multi-step procedure involving methods of frequency and correlation analysis, the method of studying the relationship between categorical variables. Our results reveal several gender differences, which greatly appear in expectations on a job-to-pay ratio

The Effect of Long-Term Agricultural Use on the Bacterial Microbiota of Chernozems of the Forest-Steppe Zone

The structure of soil microbial communities and the factors that control it are still poorly understood and cause ongoing interest. The diversity of soil bacteria reflects the diversity of existing ecological niches and trophic connections between them and with other components of the ecosystem. The presence of certain taxa with their own characteristic properties depends on the specific environmental conditions. Analysis of the composition of soil microbiota in various physicochemical conditions allows identify landmarks for understanding the principles by which it is formed. Of particular interest in this regard are the features of cultivated fertile soils that assist agricultural production. In this paper, we have assessed the occurrence of representatives of different families of bacteria in arable and nonarable chernozems of three subtypes. The methodology of 16S microbial profiling was used. The general features of the taxonomic structure of bacterial communities of chernozem remain similar, with a high occurrence of the families Sphingomonadaceae, Xanthobacteraceae, Rubrobacteraceae and Chitinophagaceae. Notably, Gemmatimonadaceae, one of the most commonly occurring families, is approximately twice as represented in arable soils as in nonarable ones. Differences between subtypes of chernozem and between arable and nonarable areas concerned different sets of bacterial families. Among others, the occurrence of representatives of families characterized by nitrogen fixation, nitrite oxidation and reduction, ethanol oxidation, biodegradation and microbial predation is touched upon. The obtained results raise the question of the factors limiting the number of certain groups of bacteria in various soil conditions and so limiting their contribution to the properties of the ecosystem