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Biomedical subjects

C Hull

Publications and source records attributed to C Hull.

3 recordsLinked to original sources

Neuronal and glial elements of fetal neostriatal grafts in the adult neostriatum.

The cellular components of striatal grafts into the host striatum of rats were studied using [3H]thymidine autoradiography, histochemistry, immunocytochemistry and Golgi-staining. Autoradiography revealed that a layer of glial cells, somas smaller than 8 microns in diameter, stained positive with glial fibrillary acidic protein, and demarcating transplant from host, is derived mainly from the donor. Golgi studies revealed that many neuronal fibers fail to cross the glial layer to reach the host striatum. Migration of transplanted striatal cells into the host milieu was evident. The density of migrated cells decreased linearly as a function of distance from the transplant. Most of the far-migrated cells were glial cells. Neuronal migration was limited. In the transplant, donor cells marked by [3H]thymidine constituted at least 70% of the population. Neurons which stained positively for GABA, substance P, and acetylcholinesterase were identified in the transplant. Fibers of two of these three neuronal types, substance P and acetylcholinesterase, formed patchy patterns in the transplant. Detailed morphology on GABAergic fiber is not available to date, because of the limited antibodies or the method used. GABA is the highest population in the striatal transplant. Two types of GABA-positive cells were clearly distinguishable according to cell size. A majority resembled the medium-sized cell commonly found in striatum, while those of the other type resembled the larger GABA cells usually found in the globus pallidus.

Animals

Analysis of mutations at the fragile X locus using the DNA probe Ox1.9.

In this study, 40 families segregating for fragile X [fra (X)] syndrome were examined for the presence of a mutation within the FMR-1 gene. Using the DNA probe Ox1.9, both carriers and affected individuals were found to contain an insertion/amplification-type of mutation with somatic instability. Variability in the size of the mutation, which ranged from less than 0.2 kb to approximately 13 kb, was observed both between individuals (even from the same family) and within individuals, who showed a smear rather than a discrete band(s) on Southern blot analysis. Transmission of the mutation by males resulted in little change of its size, while transmission by females usually resulted in an increase in size. Correlations were observed between the size of inserted/amplified DNA and the level of chromosome fragility and the presence or absence of mental impairment. Overall, a mutation was detected in 66 of 67 (99%) clinically affected males, in 12 of 13 (92%) transmitting males and in 95 of 112 (85%) carrier females. Equivocal results were obtained in 12 (11%) of the carrier females. No mutation was detected in 58 females and 33 males predicted to be normal by linkage, or in one female and 36 normal control males. These results strongly suggest that the mutation detected by Ox1.9 is closely associated with the cytogenetic and clinical expression of fra (X) syndrome. Additionally, the use of this probe along with other probe/enzyme combinations should provide a sensitive clinical assay for the detection of carriers of fra (X) syndrome.

Cytogenetics

Experience counts.

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Curriculum