1.Research on degradation of dural sealant material in vivo
Pei YU ; Xi YANG ; Jing-Jing ZHANG ; Jian-Jie JIAO ; Qin LI ; Jing LI ; YU-Qing YIN ; Meng-Yao AN ; Jian-Shi LAO
The Chinese Journal of Clinical Pharmacology 2015;(13):1265-1267
Objective To determine the content of polyethylene glycol 15000 ( PEG15000 ) , the main degradation product of medical coating system inside the body by using high performance liquid chromatography -evaporative light scattering detector ( HPLC-ELSD ) and to evaluate its degradation rule.Methods The medical coating system was implanted into the back of rats , and these rats were executed by cervical vertebra dislocation zero, one, two, three, four, five, six, seven, eight, nine, ten, twelve weeks (n=6) after operation, respectively and washed with phosphate buffer to collect the rest gel and washing fluid , then HPLC-ELSD was used to determine the content of PEG 15000 in the rest gel and washing fluid .Results Gel in rats was intact until the end of the third week , presented as colorless transparent pieces until the sixth week, and then transformed to liquid state , presented as water until the ninth week and not seen by naked -eye until the twelfth week.The content of PEG15000 in the rest gel was decreased progressively with the extension of experiment weeks .Conclusion The degradation rate of gel inside the body of rates presents the rule of one fast and one slow;which conforms to the requirements in physiological process of dural defects healing.
2.A rare transcription mutation (-90 C-->T) in a Chinese family with beta-thalassemia.
Wen-jun LI ; Xiong-wu LAO ; Shi-qi JAI ; Feng-ai LIANG ; Qiu-hua MO ; Jian-ying MA ; Xiang-min XU
Chinese Journal of Medical Genetics 2003;20(6):468-470
OBJECTIVETo identify a rare transcription mutation (C-->T) at position -90 of the beta-globin gene previously unreported in the beta-thalassemia carriers from a Chinese family.
METHODSIn phenotype analysis, standard hematological techniques were used to measure RBC counts and Hb concentration. Reverse dot blot (RDB) analysis, which can simultaneously detect 18 known types of beta-thalassemia mutations in Chinese, was used to scan beta-globin gene mutations. DNA sequence analysis of the entire human beta-globin gene was performed to characterize the underlying causative mutation of the sample and to identify its genotype. A semi-quantitative RT-PCR method was used to measure beta-globin gene expression in the form of mRNA from the subjects.
RESULTSThe proband, his brother and his mother presented a typical beta-thalassemic trait with reduced mean corpuscular volume (MCV, 68.2-73.6 fL) and elevated level of Hb A(2) (5.7%-6.4%) but no known beta-thalassemia mutations were found in the samples by RDB analysis. DNA sequencing of the beta-gene region of these three samples revealed heterozygosity for the C-->T substitution at position -90 within proximal CACCC box of the beta-globin gene promoter element, which was previously unreported in the Chinese population. Analysis of mRNA from the positive carriers demonstrated that the mutant beta-globin gene significantly reduced beta-globin transcription (mutants: 2.233 +/- 0.01 vs normal: 3.779+/-1.19; 95%CI: 3.060, 4.499), showing a level comparable with that of the other beta-thalassemia heterozygotes (2.110+/-0.53, 95%CI: 1.732, 2.488).
CONCLUSIONA rare transcriptional mutation that led to beta-thalassemia in Chinese population has been characterized. The findings enrich knowledge of the mutation spectrum of beta-thalassemia.
Adult ; Female ; Globins ; genetics ; Humans ; Mutation ; Transcription, Genetic ; beta-Thalassemia ; genetics