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Article in Chinese | WPRIM | ID: wpr-332405


<p><b>OBJECTIVE</b>To study the clinical features and gene mutation analysis in Machado-Joseph disease of spinocerebellar ataxia type 3 in littoral of Zhejiang.</p><p><b>METHODS</b>Clinical manifestation and brain MRI data 18 patients with SCA in family were analyzed. The gene mutations of 18 patients and 10 family numbers without abnormal presentation, and 12 healthy persons of controls.</p><p><b>RESULTS</b>The gene mutations of 18 patients is SCA3/MJD, and 2 asymptomatic SCA3/MJD had been detected in SCA family. Normal alleles of SCA3/MJD have CAG repeats ranging from 14 to 27, patients from 67 to 82, asymptomatic and carrier SCA3/MJD from 28 to 45. The main features of 18 patients included gait ataxia, ambiguity in speech and action clumsiness. Brain MRI showed remarkable atrophy on cerebellum and brain stem.</p><p><b>CONCLUSION</b>CAG expansions were related to SCA3/MJD. The clinical manifestations are ataxia and dysarthria. The detection of repeated times CAG can provide an effective way for the genetic and asymptomatic diagnosis.</p>

Adolescent , Adult , Ataxin-3 , Brain , Diagnostic Imaging , China , Female , Humans , Machado-Joseph Disease , Diagnosis , Diagnostic Imaging , Genetics , Male , Middle Aged , Mutation , Nerve Tissue Proteins , Genetics , Nuclear Proteins , Genetics , Pedigree , Radiography , Repressor Proteins , Genetics , Trinucleotide Repeat Expansion , Young Adult
Article in Chinese | WPRIM | ID: wpr-684843


Objective: To investigate the changes of gene expression in CD34+ hematopoietic stem and progenitor cells (HSPCs) under different growth environments. Methods: Umbilical cord blood mononuclear cells (UCB MNCs) were cultured in static and stirred systems. After 7 days of culture, CD34+ cells were isolated and total RNA was extracted. Gene expression patterns of CD34+ cells from fresh, static and stirred cultures were compared using differential display (DD). Results: 30 gene fragments displayed differential expression levels based on the conditions of DD. One of differentially expressed genes was identified as RAN, which is a member of oncogene RAS family. This gene may be associated with proliferation of hematopoietic cells. Conclusion: Different growth environments induced differential gene expression patterns of CD34+ HSPCs. These differentially expressed genes would give new insights into optimizing in vitro environments for expanding hematopoietic cells.

Chinese Journal of Biotechnology ; (12): 622-627, 2005.
Article in Chinese | WPRIM | ID: wpr-305192


To optimize the culture environment and protocol of hematopoietic cells' expansion, avoiding the fluctuation caused by medium changing in stirred culture and concentration gradient in static culture, the hematopoietic cells from cord blood (CB) were cultured in a stirred bioreactor connected with a cell retention system, which is a gravity sedimentation settler designed for hematopoietic cell. Total cells expanded 11.5 and 18.6 fold respectively in the twice perfusion stirred cultures, in which CFU-Mix was expanded 23.2 and 20.4 fold, CFU-GM 13.9 fold and 21.5 fold, BFU-E 8.0 fold and 6.9 fold, CD34+ cells 17.1 fold and 15.4 fold. After 12-day culture, it was obtained that 1082 x 10(6) total cells, 6.31 x 10(6) CFU-GM, 6.2 x 10(6) CFU-Mix and 23 x 10(6) CD34+ cells from 267 x 10(6) CB mononuclear cells (MNC) in the first culture, and 1080 x 10(6) total cells, 4.65 x 10(6) CFU-GM, 11.0 x 10(6) CFU-Mix, and 25.0 x 10(6) CD34+ cells from 180 x 10(6) CB MNC. These two cultures met to the clinical scale. Due to the optimized dissolved oxygen (DO) and stable culture environment, the rate of stem/progenitor cells to total cells in the perfusion culture was higher than that in T-flask cell-retention feeding culture. But the cell growth was inhibited in the later phase of perfusion culture, when the cell density is high. The inhibition should be attribute to the high cell density itself. The perfusion culture environment in bioreactor with optimal DO and pH controlling is more favorable for stem/progenitor cells' maintenance and expansion, and the expanded cells' number has reached a clinical scale. But the high cell density in the later phase of perfusion culture caused inhibition to mature hematopoietic cell's growth.

Bioreactors , Cell Culture Techniques , Methods , Cells, Cultured , Fetal Blood , Cell Biology , Hematopoietic Stem Cells , Cell Biology , Humans