PubMed · 2747115
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K Kolehmainen. 1989. [Dear midwives!].. https://pubmed.ncbi.nlm.nih.gov/2747115/
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Polymerase chain reaction genotyping of 32 unrelated Jk(null) individuals originating predominantly from Polynesia and Finland indicated that all were homozygous for the JK*B polymorphism and that 17 of 32, including the 14 Polynesians, carried a 3'-acceptor splice site mutation of intron 5 that resulted in the skipping of exon 6 (called mutation Jk delta 6). The remaining 15 Jk(null) donors from Finland were homozygous for a new T871C transition resulting in a S291P amino acid substitution at a consensus N-glycosylation site of the Jk polypeptide. Transcription-translation assays revealed that the Jk(S291P) mutant was translated into a glycosylated component as efficiently as the wild-type Jk polypeptide (wt Jk)] in the presence of microsomes, thus indicating that the S291P mutation has no effect on the N-glycosylation pattern of the Jk protein. Expression studies in Xenopus oocytes revealed that the Jk(S291P) polypeptide functions as a urea transporter, but the transport activity and the membrane expression level of the mutant protein was reduced to a similar extent. A substantial fraction of the mutant protein was retained intracellularly suggesting that the transit to the plasma membrane was reduced, presumably because of the S-->P mutation. After transfection in erythroleukemia K562 cells the wild-type, but not the mutant, protein was efficiently expressed at the cell surface. Because the Jk(S291P) mutant polypeptide was not present in human red cells from Jk(null) individuals, expression data in the erythroid context clearly indicates that the S-->P mutation is the molecular basis of the Finnish Jk(null) phenotype. (Blood. 2000;96:1566-1573)
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This paper addresses the issues surrounding an individual's exposure to potential environmental risk factors, which can be implicated in the aetiology of a disease. We hope to further elucidate the 'lag' or latency period between the initial exposure to potential pathogens and the physical emergence of the disease, with specific reference to the rare neurological condition, motor neurone disease (MND), using a dataset obtained from the Finnish Death Certificate registry, for MND deaths between the period 1985-1995. A space-time approach is adopted, whereby patterns in both time and space are considered. No prior assumptions about the aetiology of MND are adopted. By using methods for the analysis of point processes, which preserve the continuous nature of the data, we resolve some of the problems of analysis that are often based on arbitrary areal units, such as postcode boundaries, or political boundaries. We use kernel estimation to model space-time patterns. Raised relative risk is assessed by adopting appropriate adjustments for the underlying population at risk, with the use of controls. Significance of the results is assessed using Monte Carlo simulation, and comparisons are made with results obtained from Openshaw's geographical analysis machine (GAM). Our results demonstrate the utility of kernel estimation as a visualisation tool. Small areas of elevated risk are identified, which need to be more closely examined before any firm conclusions can be drawn. We highlight a number of issues concerning the inadequacies of the data, and possibly of the techniques themselves.