New distal marker closely linked to the fragile X locus

We have isolated II-10, a new X-chromosomal probe that identifies a highly informative two-allele TaqI restriction fragment length polymorphism at locus DXS466. Using somatic cell hybrids containing distinct portions of the long arm of the X chromosome, we could localize DXS466 between DXS296 and DXS304, both of which are closely linked distal markers for fragile X. This regional localization was supported by the analysis, in fragile X families, of recombination events between these three loci, the fragile X locus and locus DXS52, the latter being located at a more distal position. DXS466 is closely linked to the fragile X locus with a peak lod score of 7.79 at a recombination fraction of 0.02. Heterozygosity of DXS466 is approximately 50%. Its close proximity and relatively high informativity make DXS466 a valuable new diagnostic DNA marker for fragile X

New polymorphic DNA marker close to the fragile site FRAXA

Abstract DNA from a human-hamster hybrid cell line, 908-K1B17, containing a small terminal portion of the long arm of the human X chromosome as well as the pericentric region of 19q was used as starting material for the isolation of an X-chromosome-specific DNA segment, RN1 (DXS369), which identifies a XmnI RFLP. Linkage analysis in fragile X families resulted in a maximum lod score of 15.3 at a recombination fraction of 0.05 between RN1 and fra(X). Analysis of recombinations around the fra(X) locus assigned RN1 proximal to fra(X) and distal to DXS105. Analysis of the marker content of hybrid cell line 908K1B17 suggests the localization of RN1 between DXS98 and fra(X). Heterozygosity of DXS369 is approximately 50%, which extends the diagnostic potential of RFLP analysis in fragile X families significantly

Nieuwe inzichten in de moleculaire oorzaken van nefrogene diabetes insipidus

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Two intronic mutations in the adrenoleukodystrophy gene

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Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation

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Een familie met de autosomaal dominante Spinocerebellaire ataxie (SCAI)

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Measurement of ferritin in serum: Application in Diagnostic use

A sandwich-type radioimmunoassay for serum ferritin was developed using iron-rich human liver ferritin and evaluated for its clinical usefulness. In young healthy males and females, the mean serum ferritin concentrations were 44 μg/L (range 7–158) and 16 μg/L (range 4–56), respectively. In anemic patients lower serum ferritin concentrations were found, while in most patients with iron overload serum ferritin concentrations well above 1000 μg/L were measured. Comparison of our method with a commercially available radioimmunoassay kit revealed a good correlation, except for sera with very low ferritin concentrations. Comparison with serum iron and transferrin parameters in patients with iron deficiency demonstrated that serum ferritin concentrations might be subnormal in a majority of patients with otherwise normal iron indices. Up to 70% of the ferritin in serum of normal subjects could bind to concanavalin A-Sepharose, indicating its glycoprotein nature. It is concluded that our serum ferritin radioimmunoassay gave reliable results and was useful in the laboratory diagnosis of latent iron-deficiency and in the analysis of the heterogeneity of serum ferritin

Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency

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