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

Contains fulltext : 22589___.PDF (publisher's version ) (Open Access

Two intronic mutations in the adrenoleukodystrophy gene

Contains fulltext : 21420___.PDF (publisher's version ) (Open Access

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

Contains fulltext : 25344___.PDF (publisher's version ) (Open Access

Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency

Contains fulltext : 22222.PDF (publisher's version ) (Open Access

Immunofluorescence microscopy of a myopathy α-Actinin is a major constituent of nemaline rods

A biopsy of skeletal muscle taken from a child with the clinical symptoms of congenital nemaline myopathy was studied. Light and electron microscopy revealed rod-like structures within the muscle fibres, and thus confirmed the clinical diagnosis. Indirect immunofluorescence, using specific antibodies against actin and desmin (both derived from chicken gizzard) as well as against α-actinin and tropomyosin (both from porcine skeletal muscle) revealed that the rods consist of massive accumulations of α-actinin. Desmin seems to be peripherally associated with the rods. Anti-actin and anti-tropomyosin did not stain the rods; however, a masking effect could not be ruled out. These findings support previous hypotheses that nemaline rods can be taken to be lateral-polymers of normal Z-disks

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacer disease

Item does not contain fulltext6 p