Adult ; Aged ; Case-Control Studies ; Female ; Gene Frequency ; Genotype ; Hepatitis, Autoimmune ; genetics ; Humans ; Liver Cirrhosis, Biliary ; genetics ; Male ; Middle Aged ; Polymorphism, Genetic ; fas Receptor ; genetics

Adult ; Anastomosis, Surgical ; Constipation/surgery* ; Humans ; Megacolon/surgery* ; Proctocolectomy, Restorative

OBJECTIVETo analyze the distribution of single nucleotide polymorphisms (SNP) of growth hormone receptor (GHR) gene in Chinese Han ethnic population.

METHODSThe sample of 106 unrelated healthy Chinese Hans was studied by sequencing exons of the GHR gene to detect SNP.

RESULTSThere were 6 SNP spots identified in exon 6 and exon 10. Five of them were found in exon 10, and one in exon 6. There were differences between the allele frequencies of the SNP we found and those in the NCBI database. The highest heterozygosity of the SNP was found at 1630 A > C (I526L), which was 47.6%. The SNP 1483 A > C (P477T), 1735 A > C (P561T) and 1319 G > T (C422F) had polarity change. The SNP 536 A > G in exon 6 from the NCBI database was not detected in this population. The allele distribution of SNP was in good unity with the Hardey-Weinberg equilibrium.

CONCLUSIONIt is suggested that the SNP of GHR are unevenly distributed and different in different ethnic populations.

Asian Continental Ancestry Group ; ethnology ; Female ; Gene Frequency ; Humans ; Male ; Polymorphism, Single Nucleotide ; Receptors, Somatotropin ; genetics

Objective To investigate the relationship of-174G ＞ C polymorphism of interleukin 6 (IL-6) gene promoter region upstream-with coronary heart disease (CHD) of Chinese Han population in Nanjing area.Methods The polymorphism of IL-6-174G ＞C gene was confirmed in 235 patients with CHD and 175 healthy individuals by PCR-RFLP,and Hardy-Weinberg equilibrium was tested.DNA samples were selected for sequencing to verify their genotype.The concentration of blood sugar,lipid,C reaction protein (CRP) and glycosylated hemoglobin (HbAlc) in the samples were measured simultaneously.Results The genotype distributions of GG,GC and CC were 98.7％,1.3％ and 0 in CHD group and 97.7％,2.3％ and 0 in control group,respectively.The frequencies of G and C alleles were 99.4％,0.6％ and 98.9％,1.1％ in the two groups.There were no statistical significance for frequencies of genotype and alleles between the two groups (all P ＞ 0.05).Compared with the control group,the differences of smoking,systolic blood pressure (SBP),diastohc blood pressure (DBP),triglyceride (TG),cholesterol (CHOL),low-density lipoproteins-cholesterol (LDL-C),high-density lipoproteins-cholesterol (HDL-C),apolipoprotein A-I (ApoA-I),ApoB,CRP and HbA1 c were statistically significant (all P ＜ 0.05),while age,sex and blood glucose were not statistically significant (all P ＞ 0.05).Conclusion IL-6-174 G ＞ C gene polymorphism should not remarkably correlated with CHD in Chinese Han population in Nanjing area.

The aim of the present study is to observe the receptor kinetics property of long-term potentiation (LTP) of excitatory postsynaptic potential (EPSP) in spinal cord motoneurons (MNs) by descending activation. The intracellular recording techniques were conducted in spinal cord MNs of neonatal rats aged 8-14 days. The changes of EPSP induced by ipsilateral ventrolateral funiculus (iVLF) stimulation (iVLF-EPSPs) were observed, and receptor kinetics of iVLF-EPSPs were analyzed. The results showed that, the amplitude, area under curve and maximum left slope of EPSP were positively correlated with stimulus intensity (P < 0.05 or P < 0.01), while the apparent receptor kinetic parameters apparent dissociation rate constant (K(2)), apparent equilibrium dissociation constant (K(T)) of EPSP were negatively correlated with stimulus intensity (P < 0.01 or P < 0.05). The iVLF-EPSPs were persistently increased after tetanic stimulation (100 Hz, 50 pulses/train, duration 0.4-1.0 ms, 6 trains, main interval 10 s, 10-100 V) in 5 of 11 tested MNs. The amplitude of iVLF-EPSPs was potentiated to more than 120% of baseline and lasted at least 30 min, which could be referred to as iVLF-LTP. Meanwhile, the area under curve and maximum left slope of EPSPs were also increased to more than 120% of baseline. During iVLF-LTP, apparent receptor kinetics analyses of iVLF-EPSPs indicated that K(2) and KT were decreased significantly to less than 80% of the baseline within 10 min and gradually and partially recovered in 3 MNs. These results of receptor kinetics analyses of iVLF-EPSPs suggest a possible enhancement in affinity of postsynaptic receptors in the early stage of iVLF-LTP in some MNs.
Animals ; Excitatory Postsynaptic Potentials ; Kinetics ; Long-Term Potentiation ; Motor Neurons ; physiology ; Rats ; Spinal Cord ; cytology ; Synaptic Transmission

AIMTo explore the adapting metabolic mechanisms of the plateau zokors to the hypoxic-hypercapnic environment.

METHODSThe activities of lactate dehydrogenase in serum and tissues, and the content of lactate in serum of plateau zokors in spring, summer and autumn were determined by using method of enzyme analysis. The spectrums of lactate dehydrogenase isoenzymes in serum and tissues of plateau zokors in spring, summer and autumn were analyzed by using method of the discontinuous systemic poly-acrylamide perpendicular plank gel electrophoresis.

RESULTSThe activities of lactate dehydrogenase in serum had obvious seasonally difference that were higher in spring and lower in autumn, and the content of lactate in serum showed same changing pattern. The spectrums of lactate dehydrogenase isoenzymes in serum showed five bands that were LDH1, LDH2, LDH3, LDH4 and LDH5 from positive pole to negative pole respectively, it showed clearly two bands in serum of summer that were LDH4 and LDH5 and one band in serum of autumn that was LDH5. The activities of LDH in tissues of skeleton muscle, cardiac muscle and brain were higher compared with the other tissues, it decreased markedly from spring to summer to autumn. In tissues of liver, kidney and lungs, activities of LDH were lower. Activities of LDH in livers, were significantly higher in spring compared that in summer and autumn, which had no obvious difference between summer and autumn. Activities of LDH in kidneys and lungs, showed no obviously difference between spring and summer, which decreased markedly in autumn. The spectrums of lactate dehydrogenase isoenzymes in tissues of cardiac muscle, liver, lungs, kidney, brain and skeleton muscle showed five bands, the spectrums were obvious different in different tissues, and the content of LDH isoenzymes showed seasonal changes in different tissues.

CONCLUSIONGlycolysis levels in plateau zokors had obvious seasonally change which increased in spring and decreased in autumn significantly. It related to the activity of plateau zokors in different seasons and seasonal fluctuation of oxygen and carbon dioxide in burrows of plateau zokors.

Animals ; Carbon Dioxide ; metabolism ; Isoenzymes ; analysis ; metabolism ; L-Lactate Dehydrogenase ; analysis ; metabolism ; Rodentia ; metabolism ; Seasons

OBJECTIVETo investigate the autophagy in human bone marrow mesenchymal stem cells (hBMMSC) exposed to irradiation.

METHODSThe apoptosis and necrosis rate were assessed by Annexin V and propidium (PI) staining in hBMMSC at 4h after irradiated with X-ray at 0, 2, 4, 8 and 10 Gy. The autophagy was observed by transmission electron microscopy. The mRNA expression of Beclin1 and microtubule-associated protein 1 light chain 3 (MAPLC3 or LC3) was analyzed by RT-PCR in hBMMSC at 4h after X-ray irradiation at 0, 8 and 10 Gy.

RESULTSThe apoptosis rate of hBMMSC was markedly decreased while the necrosis and death rate were slowly increased with the increase of irradiation dose when under 8 Gy. The apoptosis rate was significantly increased and reached a peak while the necrosis and whole death rate were obviously increased when irradiated with 10 Gy X-rays. In addition, the change of apoptosis rate was more significant than that of necrosis rate. By electron microscopy, a mass of autophagic vacuoles (autophagosome and autolysosome) were observed in irradiation and positive control groups, but were only occasionally seen in normal control group. The proportion of hBMMSC with autophagic vacuoles in 8 Gy irradiation group was higher than that in 10 Gy one. The mRNA expression of Beclin1 and LC3 in irradiation groups and positive control group was significantly higher than in normal control group, and so did in 8 Gy irradiation group than that in 10 Gy group.

CONCLUSIONIrradiation may induce the autophagy in hBMMSC, and autophagy could protect hBMMSC from irradiation injury in a certain dose range.

Apoptosis ; radiation effects ; Autophagy ; radiation effects ; Bone Marrow Cells ; radiation effects ; Cell Line ; Humans ; Mesenchymal Stromal Cells ; radiation effects ; X-Rays

Recent studies have shown that low dose X-irradiation shows specific effect different from high dose exposures. However, the biologic responses of bone marrow mesenchymal stem cells (BM-MSC) to low dose X-irradiation have rarely been described in the literature. This study was purposed to investigate the biologic responses of human bone marrow-derived MSC to low dose X-irradiation. The proliferation of cells was tested with MTT assay, so that the cell growth curve was drawn at 1 to 7 days. The expression of survivin mRNA was detected by RT-PCR assay; the BM-MSC DNA damage induced by X-irradiation were detected with mononuclear cell gel electrophoresis. The results indicated that the proliferative ability of BM-MSC exposed to low doses of X rays was obviously enhanced as compared with control group. The low dose X-irradiation caused the damage of DNA in X-ray dose dependent manner. X-irradiation enhanced expression of survivin in MSC. It is concluded that the low dose below 20 cGy of X-irradiation has a promoting effect on survivin expression in BM-MSC. Whether the high expression of survivin plays an important role to resist ionizing radiation needs to be further studied.
Bone Marrow Cells ; radiation effects ; Cell Differentiation ; Cell Proliferation ; Cells, Cultured ; Dose-Response Relationship, Radiation ; Humans ; Mesenchymal Stromal Cells ; radiation effects ; X-Rays

Objective To find out the distribution pattern of environmental fluoride in the coal-burning endemic fluorosis areas to provide scientific evidence for establishing prevention and remedial measures in Chongqing. Methods According to historical data in Chongqing In 2008, 4 endemic villages(Lingyun and Lizi Villages of Wushan County, and Taiping and Daqing Villages of Pengshui County) and 2 non-endemic villages (ShuangLou and XianLong Villages of Yongchuan County) were investigated. Dental fluorosis of children in 8 to 12 year old and residents over 16 years of age for clinical skeletal fluorosis were examined in four endemic villages. Five households from each of 6 villages were taken, where 500 g of coal, mixed clay with coal, mixed coal of soil, coal cinder, soil were sampled; 15 people were taken in each village, each household gathering 500 g of corn, rice, potatoes, vegetables, grain and vegetable, 100 g of dried pepper and 250 ml of drinking water were sampled from 15 families of each village. Household drinking water samples were collected 1, each 250 ml. For those having tea-drinking habit, each household was collected 50 g of tea and 600 ml of drinking tea, the amount of fluoride were determined. Indoor and outdoor air was collected and measured in 5 households in each village. Results The detected rate of dental fluorosis of children in endemic areas was 74.65% (736/986). The detected rate of skeletal fluorosis of adult was 7.20%(736/986). The average fluoride content of coal, mixed clay with coal, mixed coal of soil, cinder coal, soil in the endemic villages was (310.56±209.46), (360.51±224.96), (293.62±65.15), (186.59±133.66), (497.54±294.70)mg/kg. The average fluoride content in non-endemic villages was (48.68±10.62), (275.66±62.69), (152.20±34.43), (209.14±188.66),269.98±58.21)mg/kg. The fluoride content level of endemic villages was significantly higher than that of non-endemic villages(t=7.67,31.54,5.82, 5.82, all P<0.05). The average fluoride content of drinking water, corn, pepper, flee, potato and vegetable in the endemic villages was (0.30±0.14)mg/L, (1.83±2.67), (23.50±91.80), (0.77±0.25), (0.44±0.11), (0.48±0.18)mg/kg, The average fluoride content in non-endemic village was (0.18±0.06)mg/L, (2.21±0.46), (2.82±2.51), (1.31±0.21), (0.64±0.41), (1.10±0.77)mg/kg. The fluoride content in drinking water and pepper in the endemic villages was significantly higher than that of the non-endemic villages(t=7.79, 2.33, all P<0.05). The fluoride content of rice, potato and vegetable in the non-endemic villages was significantly higher than that of the endemic villages(t=39.29,4.69,4.01, all P<0.05). There was no significant difference of fluoride content of tea and drinking tea between endemic villages[(99.41±55.83)mg/kg, (1.59±0.91)mg/L] and non-endemic villages[(79.95±43.78)mg/kg, (1.80±1.16)mg/L, t=1.01, 0.27, all P>0.05]. The amount of drinking tea in the endemic village[(1.45±0.68)L/d] was higher than that in non-endemic village[(1.00±0.47)L/d, t=4.27, P<0.05]. The average fluoride content of indoor air in the endemic village[(12.77±8.08)μg/m3] was higher than that in non-endemic village [(1.16±1.08)μg/m3, t=9.49, P<0.01]. There was no significant difference of fluoride content of outdoor air between endemic village and non-endemic village[(1.10±1.57), (0.39±0.31)μg/m3, t=2.01, P>0.05)]. Conclusions The fluoride source of coal-burning endemic fluorosis areas are coal and mixed coal of soil in Chongqing. Fluoride enters into human bodies mainly via respiratory, not from food. Although fluoride is rich in pepper, people don't eat it, so reducing the fluoride content in indoor air is the principle measure. Drinking tea may be was one factor of endemic fluorosis, which needs to be further studied.

Objective To explore the molecular basis of familial hypercholesteraemia(FH)by analyzing the phenotype and genotype relationship through identify the low density liporotein receptor(LDL-r)gene mutation in a FH kindred.Methods A male patient of 15 years old was selected to examine the electrocardiogram,lipid.Color Doppler was used to examine heart and great vessels.The promoter region and the 18 exons of the LDL-r gene were screened by touch-down polymerase chain reaction(PCR)and DNA sequencing.Results The caro-tid intima-media thickness(IMT)was increased to 0.23 cm,while coronary flow velocity reserve(CFVR)was decreased to 1.57,and mode-rate mitral regurgitation was found in the proband.The genetic alteration G→A change at 1 448 of exon 10 causing premature stop codon(W462X).The same heterozygous nonsense mutation was also found in his father.The mutation had been reported in other Chinese patients.In vitro experiments showed that W462X mutation leads to low LDL binding and internalization ability.Conclusions The homozygous mutation(W462X)in exon 10 of the LDL-r gene were identified in the clinically heterozygous FH proband.The W462X mutation is the underl-ying cause of hypercholesterolaemia and clinical AS manifestations.W462X is recurrent mutation among Chinese FH patients.It might be a hot spot mutation in LDL-r in Chinese FH.J Appl Clin Pediatr,2009,24(1):18-20