Your browser doesn't support javascript.
loading
Montrer: 20 | 50 | 100
Résultats 1 - 20 de 24
Filtrer
1.
Article de Anglais | WPRIM | ID: wpr-970963

RÉSUMÉ

Pediatric and adult spinal cord injuries (SCI) are distinct entities. Children and adolescents with SCI must suffer from lifelong disabilities, which is a heavy burden on patients, their families and the society. There are differences in Chinese and foreign literature reports on the incidence, injury mechanism and prognosis of SCI in children and adolescents. In addition to traumatic injuries such as car accidents and falls, the proportion of sports injuries is increasing. The most common sports injury is the backbend during dance practice. Compared with adults, children and adolescents are considered to have a greater potential for neurological improvement. The pathogenesis and treatment of pediatric SCI remains unclear. The mainstream view is that the mechanism of nerve damage in pediatric SCI include flexion, hyperextension, longitudinal distraction and ischemia. We also discuss the advantages and disadvantages of drugs such as methylprednisolone in the treatment of pediatric SCI and the indications and timing of surgery. In addition, the complications of pediatric SCI are also worthy of attention. New imaging techniques such as diffusion tensor imaging and diffusion tensor tractography may be used for diagnosis and assessment of prognosis. This article reviews the epidemiology, pathogenesis, imaging, clinical characteristics, treatment and complications of SCI in children and adolescents. Although current treatment cannot completely restore neurological function, patient quality of life can be enhanced. Continued developments and advances in the research of SCI may eventually provide a cure for children and adolescents with this kind of injury.


Sujet(s)
Adulte , Enfant , Humains , Adolescent , Imagerie par tenseur de diffusion/méthodes , Qualité de vie , Traumatismes de la moelle épinière/thérapie , Pronostic , Traumatismes sportifs , Moelle spinale/anatomopathologie
2.
International Eye Science ; (12): 251-253, 2017.
Article de Chinois | WPRIM | ID: wpr-731463

RÉSUMÉ

@#Glaucoma is the second major causes of blindness after cataract. The conventional trabeculectomy and shunt implantation is still the most common surgical procedure in treatment of glaucoma. However, the limitations of the treatments are the security and failure rate. Micro-invasive glaucoma surgery(MIGS)is an emerging category which shares the following five characteristics compared with traditional glaucoma surgery:(1)an interno microincision,(2)micro-invasion,(3)definite curative effect,(4)high safety, and(5)rapid recovery. moreover, it can also reduce the use of glaucoma medication after operation. This kind of surgery can be conducted in three different space, such as Schlemm canal, the suprachoroidal space, and the subconjunctival space. This article reviews briefly the new techniques of micro-invasive glaucoma surgery.

3.
Article de Chinois | WPRIM | ID: wpr-483091

RÉSUMÉ

One hundred and eighty two outpatients with functional dyspepsia (FD)were enrolled.The cognitive questionnaire and the short form Nepean Dyspepsia Index (NDI) were used for survey.Spearman analysis showed that the cognitions of symptoms affected by emotion (r =0.284,P =0.006),somatisation symptoms induced by other diseases (r =0.211,P =0.045),and fears of cancer (r =0.217,P =0.039) were positively correlated with NDI scores.Multiple linear regression analysis demonstrated that cognition of symptoms affected by emotion (β =3.709,P =0.009),somatisation symptoms induced by other diseases (β =3.259,P =0.020),need of hospitalization (β =4.533,P =0.006),and need of medication for several years (fβ =-3.207,P =0.029) were associated with NDI scores.These results suggest that the quality of life might be effected by cognitive factors,and the correction of cognitive mistakes may improve quality of life of FD patients.

4.
Chinese Journal of Neuromedicine ; (12): 270-272, 2010.
Article de Chinois | WPRIM | ID: wpr-1032966

RÉSUMÉ

Objective To compare the prognostic role of MRI scan,CT scan and physical check-up in the brainstem injury.Methods Twenty-one patients with craniocerebral injury,appearing disturbance of consciousness,were performed MRI scan,CT scan and physical check-up to exclude brainstern injury under airway unobstructed condition;their results were compared and analyzed.Results In all of these patients,17 showed brainstern injury symptoms.Tracheotomy was performed in 14 and decompression of cerebral contusion and removal of intracranial hematoma was performed in 7.CT examination was adopted in all the patients:low-density shadow in hrainstem region and catholicity subarachnoid hemorrhage was found in 9 and 7,respectively;gently subarachnoid hemorrhage or no obvious brainstem change was noted in 5.MRI scan showed that 15 patients were diagnosed as having brainstem injury and 6 were base of skull or hemisphere region injuries.Conclusion MRI scan,which is better than CT scan and physical check-up,can help to make a definite diagnosis in brainstem injury.

5.
Article de Anglais | WPRIM | ID: wpr-360653

RÉSUMÉ

<p><b>OBJECTIVE</b>To study the differential patterns of gene expression in skeletal muscle and adipose tissue between type 2 diabetes mellitus (T2DM) patients and healthy subjects using DNA microarray analysis.</p><p><b>METHODS</b>T2DM patiens were divided into female group, young male group and old male group. DNA microarray analysis and quantitative real-time PCR were carried out to analyze the relation between gene expressions and T2DM.</p><p><b>RESULTS</b>The mRNA expression of 298, 578, and 350 genes was changed in the skeletal muscle of diabetes mellitus patients compared with control subjects. The 1320, 1143, and 2847 genes were modified in adipose tissue of the three groups. Among the genes surveyed, the change of 25 and 39 gene transcripts in skeletal muscle and adipose tissue was > or = 2 folds. These differentially expressed genes were classified into 15 categories according to their functions.</p><p><b>CONCLUSION</b>New genes are found and T2DM can be prevented or cured.</p>


Sujet(s)
Sujet âgé , Femelle , Humains , Mâle , Adulte d'âge moyen , Tissu adipeux , Métabolisme , Asiatiques , Diabète de type 2 , Métabolisme , Analyse de profil d'expression de gènes , Régulation de l'expression des gènes , Physiologie , Muscles squelettiques , Métabolisme , Séquençage par oligonucléotides en batterie
6.
Article de Chinois | WPRIM | ID: wpr-229995

RÉSUMÉ

<p><b>OBJECTIVE</b>To investigate the role of sulfated tyrosine in regulating the activity of tyrosylprotein sulfotransferases (TPST) 1 and TPST2.</p><p><b>METHODS</b>Constructs of TPST 1 and TPST2 were amplified by polymerase chain reaction (PCR), then fused into immunoglobulin G1 Fc region. All the variants in which sulfated tyrosines were mutated to phenylalanine were made by the PCR-based Quick Change method and confirmed by sequencing the entire reading frame. Small hairpin RNA (shRNA) constructs-targeting nucleotides 259-275 of TPST1 and nucleotides 73-94 of TPST2 were generated and subcloned into pBluescript. Human embryonic kidney (HEK) 293T cells were transfected with these plasmids. One day later, cells were split: one part was labeled with 35S-cysteine and methionine or 35S-Na2SO3 overnight, the second part was used for 125I labeled binding experiment, and the third part was retained for binding and flow cytometry.</p><p><b>RESULTS</b>Tyrosines at position 326 of TPST1 and position 325 of TPST2 were sulfated posttranslationally. Tyrosine sulfation of TPSTs was effectively inhibited by sulfation inhibitors, including specific shRNAs and non-specific NaCIO3. shRNAs reduced the sulfation of C3a receptor and C5a receptor, and partially blocked the binding of these two receptors to their respective ligands.</p><p><b>CONCLUSIONS</b>The activities of TPSTs were regulated by tyrosine sulfation. Inhibition of sulfotyrosine decreases the binding ability of C3a receptor and C5a receptor to their respective ligands.</p>


Sujet(s)
Humains , Lignée cellulaire , Complément C3a , Métabolisme , Complément C5a , Métabolisme , Liaison aux protéines , Maturation post-traductionnelle des protéines , Récepteur à l'anaphylatoxine C5a , Métabolisme , Récepteurs au complément , Métabolisme , Sulfotransferases , Génétique , Métabolisme , Transfection , Tyrosine , Métabolisme
7.
Article de Chinois | WPRIM | ID: wpr-281247

RÉSUMÉ

<p><b>OBJECTIVE</b>To identify the susceptibility genes of type 2 diabetes in Chinese Han population.</p><p><b>METHODS</b>Single nucleotide polymorphism (SNP) discovery, genotyping and haplotype construction were performed in 30 candidate genes. Case-control study were carried out in a population-based sample and confirmed by the transmission disequilibrium test (TDT) analysis in 77 trio pedigrees. The effects of the SNP rs5210 on gene expression were studied by reporter gene technique.</p><p><b>RESULTS</b>The case-control studies showed that several SNPs on KCNJ11 gene was associated with type 2 diabetes in Chinese Han population, in which the allele frequency of SNP rs5219, the genotype frequency of rs5210, rs2285676 and rs5219, and the frequency of haplotype GA combined of the rs5219 and rs5215 showed significant difference between these two groups (P < 0.05). In addition, TDT test also showed statistical significance on this haplotype GA (P < 0. 05). The reporter gene assay showed that the effect on gene expression was significantly different between two alleles of rs5210 (P < 0.05).</p><p><b>CONCLUSION</b>KCNJII gene is one of the susceptibility genes of type 2 diabetes in Chinese Han population.</p>


Sujet(s)
Adulte , Sujet âgé , Femelle , Humains , Mâle , Adulte d'âge moyen , Asiatiques , Génétique , Études cas-témoins , Diabète de type 2 , Génétique , Prédisposition génétique à une maladie , Dépistage génétique , Génotype , Polymorphisme de nucléotide simple
8.
Article de Chinois | WPRIM | ID: wpr-590015

RÉSUMÉ

Objective To investigate the proliferation and collagen secretion of transplanted human fibroblasts.Methods The solution containing human fibroblasts(2?1010L-1)was prepared and 1 mL was injected into the dermis of BALB/CNU nude mice.Animals were killed by the end of the 1st,2nd and 3rd month after injection.The dermis in the injected area was taken out and stained with HE.Immunohistochemical staining for type I and type Ⅲ collagen was performed at the same time.Results Mitosis was observed by the end of the 1st,2nd and 3rd month.The concentration of type I and type Ⅲ collagen in the extra cellular matrix increased with the passing of time.Conclusion Transplanted human fibroblasts can proliferate automatically in the dermis of nude mice and manufacture the type I and type Ⅲ collagen in situ.Long period of survival and secretion will make it possible for fibroblasts to become promising option to correct minimal tissue defects.

9.
Article de Chinois | WPRIM | ID: wpr-343722

RÉSUMÉ

<p><b>OBJECTIVE</b>To locate the region responsible for nuclear localization of protein sAC.</p><p><b>METHODS</b>The eukaryotic expression vector of vairous sAC deletion mutants were transfected into Hela cells. The localization of each mutant was observed using confocal microscope.</p><p><b>RESULTS</b>For some mutants, the localization of sAC changed. Deletion of some region made it unable to locate in the nuclear.</p><p><b>CONCLUSION</b>It is possible to figure out that the nucleotide region (739-1038 and 1045-1261) take charge of nuclear localization of sAC.</p>


Sujet(s)
Femelle , Humains , Mâle , Adenylate Cyclase , Génétique , Diabète de type 2 , Génétique , Prédisposition génétique à une maladie , Génétique , Dépistage génétique , Microscopie confocale , Protéines nucléaires , Génétique , Polymorphisme de nucléotide simple , Génétique
10.
Article de Chinois | WPRIM | ID: wpr-343723

RÉSUMÉ

<p><b>OBJECTIVE</b>To search for the susceptibility variant (s) of type 2 diabetes in the susceptible regions on chr.1 (1p36.23-36.33, 1q24.3-25.1, and 1q42.12-42.13) by genotyping SNP markers in case-control DNA samples and identifying the haplotype associated with type 2 diabetes.</p><p><b>METHODS</b>Totally 124 SNPs in 33 candidate genes in the mapped regions were chosen from public SNP data or identified by sequencing the samples that were used to search for SNP locus. Sequencing method was used to genotype the loci for 236 sporadic type 2 diabetes patients and 152 normal subjects in Northern Han Chinese population. The haplotypes with significant difference were further analyzed.</p><p><b>RESULTS</b>Of 124 SNPs successfully typed, 4 SNPs that showed association with diabetes status were found: rs203849 (P=0.005, OR=1.60) and rs203826 (P=0.016, OR=1.60) located in sAC gene, rs7535528 (P=0.028, OR=1.45) located in PANK4, rs884363 (P=0.043, OR=1.37) located in CASP9 gene. In addition, the frequencies of two combination types from these 4 SNP genotypes were significantly different between case and control groups (P < 0.001). Furthermore, four haplotypes associated with diabetes were found in haplotype analysis of sAC gene.</p><p><b>CONCLUSION</b>sAC, PANK4, and CA SP9 may be associated with type 2 diabetes in Han population in north China, and it seems that the synergetic effect of these genes is responsible for the development of type 2 diabetes.</p>


Sujet(s)
Adulte , Femelle , Humains , Mâle , Adulte d'âge moyen , Apoptose , Génétique , Caspase-9 , Caspases , Génétique , Chine , Chromosomes humains de la paire 1 , Génétique , Diabète de type 2 , Génétique , Prédisposition génétique à une maladie , Dépistage génétique , Variation génétique , Génotype , Haplotypes , Génétique , Polymorphisme de nucléotide simple
11.
Article de Anglais | WPRIM | ID: wpr-264281

RÉSUMÉ

<p><b>OBJECTIVE</b>To establish a cytologic expressing system of rat glutathione S-transferase pi (GST-pi) cDNA for detecting the resistance of HeLa cells to anticancer drugs.</p><p><b>METHODS</b>The assessment was made with various anticancer drugs (adriamycin, mitomycin, cisplatinum and vincristine) that showed different cytotoxicities in transfectant HeLa cells with pSV-GT containing rat GST-pi cDNA (HeLa/pSV-GT) or control pSV-neo (HeLa/pSV-neo). Expression levels of GST-pi mRNA in HeLa/pSV-GT and HeLa/pSV-neo were measured by in situ hybridization using Digoxin-labelled cDNA probe.</p><p><b>RESULTS</b>HeLa/pSV-GT expressed significantly high degree of GST-pi mRNA, whereas both HeLa/pSV-neo and HeLa cells had very low expression. Cytotoxicities of HeLa/pSV-GT and HeLa/pSV-neo with 4 anticancer drugs were measured by MTT assay. Drug concentrations for yielding 50% inhibition (IC50) in HeLa/pSV-GT by adriamycin, mitomycin and cisplatinum were 70.13 microg/mL, 10.95 microg/mL and 16.52 microg/mL, respectively. In contrast, IC50 in HeLa/pSV-neo was 10.34 microg/mL, 7.48 microg/mL and 13.70 microg/mL, respectively. The cytotoxicities of vincristine on both HeLa/pSV-GT and HeLa/pSV-neo were not significantly different.</p><p><b>CONCLUSIONS</b>Our findings suggest that HeLa/pSV-GT containing rat GST-pi cDNA is resistant to some anticancer drugs due to overexpression of GST-pi. Also, HeLa/pSV-GT cell line could serve as a useful cytogenetic model for further research.</p>


Sujet(s)
Animaux , Humains , Rats , Antinéoplasiques , Pharmacologie , ADN complémentaire , Résistance aux substances , Tests de criblage d'agents antitumoraux , Glutathione transferase , Pharmacologie , Cellules HeLa , Transfection
12.
Article de Chinois | WPRIM | ID: wpr-256412

RÉSUMÉ

<p><b>OBJECTIVE</b>To acquire lots of cell to culture during the primary cell culture.</p><p><b>METHOD</b>We take the split-thickness skin slide technique to acquire the dissociated fibroblast cell in two big-ear rats.</p><p><b>RESULTS</b>The cell number is above 10(6) from 1 cm x 2 cm split-thickness skin slide and the technique is simple, economic, effectve.</p><p><b>CONCLUSION</b>We think this way is better than other methods, and should be adopted in the primary cell culture, especially in fibroblast transplantation by injection.</p>


Sujet(s)
Animaux , Lapins , Techniques de culture cellulaire , Méthodes , Fibroblastes , Biologie cellulaire , Transplantation
13.
Article de Anglais | WPRIM | ID: wpr-252441

RÉSUMÉ

<p><b>OBJECTIVE</b>To illuminate the regulating effect of all-trans retinoic acid (ATRA) on gap junctional intercellular communication (GJIC) and connexin 43 (Cx43) gene expression in glioma cells, which is tissue- and organ-specific.</p><p><b>METHOD</b>Rat C6 glioma cells were exposed to ATRA at a concentration of 1, 10, 100 micromol/L and the GJIC function of the cells was examined with scrape-loading dye transfer assay 24 hours, 48 hours and 72 hours after ATRA treatment. The effect of ATRA on Cx43 gene expression was measured with semiquantitative reverse transcription polymerase chain reaction (RT-PCR) 24 hours after ATRA exposure.</p><p><b>RESULTS</b>The GJIC function of C6 glioma cells was significantly increased by ATRA at each concentration applied. The dye passed 4 to 5 rows of cells from the scraping edge in ATRA treated cells, but only 1 or 2 rows in the control. The augment effect was observed 24 hours after each concentration ATRA treatment, and lasted till 72 hours after treatment with 1 micromol/L and 10 micromol/L ATRA. Forty-eight hours after exposed to 100 micromol/L ATRA, the enhancement of GJIC was less obvious. There was no significant increase induced by ATRA on the transcription of Cx43 gene, as demonstrated by semiquantitative RT-PCR.</p><p><b>CONCLUSION</b>ATRA turned out to be a potent enhancer on GJIC function in C6 glioma cells, andthe enhancement effect was most probable at post-transcriptional level.</p>


Sujet(s)
Animaux , Rats , Antinéoplasiques , Pharmacologie , Tumeurs du cerveau , Métabolisme , Anatomopathologie , Connexine 43 , Génétique , Jonctions communicantes , Physiologie , Expression des gènes , Gliome , Métabolisme , Anatomopathologie , ARN messager , Génétique , Trétinoïne , Pharmacologie , Cellules cancéreuses en culture
14.
Article de Anglais | WPRIM | ID: wpr-264330

RÉSUMÉ

<p><b>OBJECTIVE</b>To investigate the distribution of single nucleotide polymorphisms (SNPs) in CAPN10 gene in Chinese population and their relation with type 2 diabetes mellitus in Han people of Northern China.</p><p><b>METHODS</b>CAPN10 gene was sequenced to detect SNPs in different nationalities of China. Five SNPs were chosen to perform case-control study and haplotype analysis in 156 normal Han people of Northern China and 173 type 2 diabetes. One SNP was also analyzed with transmission-disequilibrium test (TDT) and sib transmission-disequilibrium test (STDT) in 68 type 2 diabetes pedigrees (377 people).</p><p><b>RESULTS</b>A total of 40 SNPs were identified in length of 8,936 bp, with an average of 1 in every 223 bp. The SNPs in CAPN10 gene did not distribute evenly and the SNPs in Chinese were different from those reported in Mexican American. There was no significantly statistical difference in the allele frequency of the 5 SNPs between case and control, and the haplotype frequencies in the two groups were not significantly different. No positive results was found in TDT and STDT analysis.</p><p><b>CONCLUSIONS</b>The SNP distribution of CAPN10 gene differs in different nationalities. The studied SNPs in CAPN10 gene may not be the major susceptibility ones of type 2 diabetes mellitus in Han people of Northern China.</p>


Sujet(s)
Humains , Calpain , Génétique , Études cas-témoins , Chine , Diabète de type 2 , Ethnologie , Génétique , Ethnies , Prédisposition génétique à une maladie , Réaction de polymérisation en chaîne , Polymorphisme de nucléotide simple
15.
Article de Anglais | WPRIM | ID: wpr-264335

RÉSUMÉ

<p><b>OBJECTIVE</b>To detect the trans-factors specifically binding to the strong enhancer element (GPEI) in the upstream of rat glutathione S-transferase P (GST-P) gene.</p><p><b>METHODS</b>Yeast one-hybrid system was used to screen rat lung MATCHMAKER cDNA library to identify potential trans-factors that can interact with core sequence of GPEI(cGPEI). Electrophoresis mobility shift assay (EMSA) was used to analyze the binding of transfactors to cGPEI.</p><p><b>RESULTS</b>cDNA fragments coding for the C-terminal part of the transcription factor c-Jun and rat adenine nucleotide translocator (ANT) were isolated. The binding of c-Jun and ANT to GPEI core sequence were confirmed.</p><p><b>CONCLUSIONS</b>Rat c-jun transcriptional factor and ANT may interact with cGPEI. They could play an important role in the induced expression of GST-P gene.</p>


Sujet(s)
Animaux , Rats , Dosage biologique , Méthodes , Protéines de transport , Chimie , Amorces ADN , ADN complémentaire , Génétique , Éléments activateurs (génétique) , Génétique , Induction enzymatique , Régulation de l'expression des gènes , Banque de gènes , Glutathione transferase , Génétique , Poumon , Analyse de séquence d'ADN , Levures
16.
Chinese Medical Journal ; (24): 103-106, 2002.
Article de Anglais | WPRIM | ID: wpr-308162

RÉSUMÉ

<p><b>OBJECTIVE</b>To investigate the effect of trans-acting factor(s) on rat glutathione S-transferase P1 gene (rGSTP1) transcription regulation in tumor cells.</p><p><b>METHODS</b>The binding of trans-acting factor(s) to two enhancers of the rGSTP1 gene, glutathione S-transferase P enhancer I (GPEI) and glutathione S-transferase P enhancer II-1 (GPE II-1), was identified by an electrophoretic mobility shift assay (EMSA). The molecular weight of trans-acting factor was measured in a UV cross-linking experiment.</p><p><b>RESULTS</b>Trans-acting factor interacting with the core sequence of GPEI (cGPEI) were found in human cervical adenocarcinoma cell line (HeLa) and rat hepatoma cell line (CBRH7919). These proteins were not expressed in normal rat liver. Although specific binding proteins that bound to GPE II-1 were detected in all three cell types, a 64 kDa binding protein that exists in HeLa and CBRH7919 cells was absent in normal rat liver.</p><p><b>CONCLUSION</b>cGPEI, GPEII specific binding proteins expressed in HeLa and CBRH7919 cells may play an important role in the high transcriptional level of the rGSTP1 gene in tumor cells.</p>


Sujet(s)
Animaux , Rats , Protéines de transport , Métabolisme , Éléments activateurs (génétique) , Physiologie , Régulation de l'expression des gènes codant pour des enzymes , Glutathione S-transferase pi , Glutathione transferase , Génétique , Isoenzymes , Génétique , Protéines nucléaires , Métabolisme , Transcription génétique
17.
Article de Chinois | WPRIM | ID: wpr-301882

RÉSUMÉ

<p><b>OBJECTIVE</b>To clone a novel gene relative to blood glucose regulation.</p><p><b>METHODS</b>Rat modes of autonomous regulation of blood glucose was made by intra jugular vein to right atrium injection of high concentration of glucose solution, and the control rats were injected with 0.9%NaCl both before skeletal muscles were separated for gene analysis. The differentially expressed fragments were identified by differential display technology (DDRT-PCR). After slot blot and Northern blot analysis, the artificial positive fragments were excluded and the true EST (expression sequence tag) differentially expressed was obtained. These positive EST were used as probes to screen cDNA library of rat skeletal muscle.</p><p><b>RESULTS</b>A novel full-length cDNA, named as Fang-2 was obtained. GenBank Accession No. was AF399874. Fang-2 was found rat homologue of human troponin T by blast software (NCBI). It shared 78% identical nucleotides, which showed the family proteins were conservative. After high concentration of glucose stimulation of rats, the expression of Fang-2 was down-regulated.</p><p><b>CONCLUSIONS</b>A novel gene relative to blood glucose regulation was cloned from rat skeletal muscle. The gene can regulate blood glucose level by effect certain mechanisms unknown yet with down-regulation expression.</p>


Sujet(s)
Animaux , Mâle , Rats , Séquence d'acides aminés , Séquence nucléotidique , Glycémie , Métabolisme , Clonage moléculaire , ADN complémentaire , Analyse de profil d'expression de gènes , Modèles animaux , Données de séquences moléculaires , Muscles squelettiques , Métabolisme , Rat Sprague-Dawley , Troponine T , Génétique
18.
Article de Chinois | WPRIM | ID: wpr-301884

RÉSUMÉ

<p><b>OBJECTIVES</b>To confirm previous whole-genome scan results of mapping type 2 diabetes susceptibility genes in chromosome 1 in Northern Chinese Han population by conducting a new genome scan with both an enlarged number of type 2 diabetes families and a new set of microsatellite markers.</p><p><b>METHODS</b>A genome scan method was applied. After multiplexed PCR, electrophoreses, genescan and genotyping analysis, size informations for all loci were obtained, and a further study was done using both parametric and non-parametric linkage analysis to calculate the P-values and Z-values of these loci.</p><p><b>RESULTS</b>A total of 34 microsatellite markers distributed within 5 regions along chromosome 1 were surveyed, and 12,000 genotypes were screened. Evidence of linkage with diabetes was identified for 8 of the 34 loci (all the P-values of the 8 loci distributed in 3 regions were lower than 0.05, and the highest Z-value was 2.17). Interestingly, all the 5 markers at the P terminal 1p36.3-1p36.23 region, spanning a long range of 16.9 cM, suggested to be linked with the disease. The results of the other two regions were not consistent with the previous ones.</p><p><b>CONCLUSIONS</b>The study results have confirmed those gained in the previous genome-wide scan. The fact that all 5 loci at the P terminal region displayed linkage with diabetes suggests that more than 1 susceptibility gene may reside in this region.</p>


Sujet(s)
Humains , Asiatiques , Cartographie chromosomique , Chromosomes humains de la paire 1 , Diabète de type 2 , Génétique , Ethnies , Liaison génétique , Prédisposition génétique à une maladie , Dépistage génétique , Génotype , Répétitions microsatellites , Génétique
19.
Article de Chinois | WPRIM | ID: wpr-301885

RÉSUMÉ

<p><b>OBJECTIVE</b>To investigate the distribution of the single nucleotide polymorphisms (SNPs) in CAPN10 gene in Chinese population and their relation with type 2 diabetes mellitus in Han people of Northern China.</p><p><b>METHODS</b>CAPN10 gene was sequenced to detect SNPs in 27 samples of different nationalities in China. 5 SNPs were genotyped with single-base extension (SBE) method to perform case-control study in 156 normal Han people of Northern China and 173 type 2 diabetes and the 3 positive loci reported in the article were performed haplotype analysis. One positive locus was also analyzed with transmission-disequilibrium test (TDT) and sib transmission-disequilibrium test (STDT) in 68 type 2 diabetes pedigrees (377 cases).</p><p><b>RESULTS</b>A total of 40 SNPs were identified in length of 8,936 bp, with an average of 1 in every 223 bp; The SNPs in CAPN10 gene did not distribute evenly and the SNPs in Chinese was different from that reported in American Mexicans. There was no significantly statistical difference in the allele frequency of the 5 SNPs between case and control (P > 0.05), and the haplotype frequencies in the two groups were not much different (P > 0.05). There was no positive results in TDT and STDT analysis (P > 0.05).</p><p><b>CONCLUSIONS</b>The SNP distribution of CAPN10 gene varies with different nationalities. The studied SNPs in CAPN10 gene may not be the major susceptibility ones of type 2 diabetes mellitus in Han people of Northern China.</p>


Sujet(s)
Humains , Allèles , Asiatiques , Études cas-témoins , Diabète de type 2 , Génétique , Ethnies , Prédisposition génétique à une maladie , Dépistage génétique , Génotype , Polymorphisme de nucléotide simple
20.
Article de Chinois | WPRIM | ID: wpr-301886

RÉSUMÉ

<p><b>OBJECTIVE</b>To probe the candidate susceptibility gene (s) of type 2 diabetes in the formal mapping region, 1p36.33-p36.23, in Han people of Northern China using single nucleotide polymorphisms (SNPs).</p><p><b>METHODS</b>23 SNPs located in 10 candidate genes in the mapping region were chosen from public SNP domain by bioinformatic methods and single base extension (SBE) method were used to genotype the loci in 192 sporadic type 2 diabetes patients and 172 normal individuals to perform case-control study.</p><p><b>RESULTS</b>Among the 23 SNPs, 8 were found to be common in Chinese population. There were statistically different in the allele frequency of 2 SNP, rs436045 in the protein kinase C/xi gene and rs228648 in Urotensin II gene between case and control groups.</p><p><b>CONCLUSIONS</b>The two SNP may be associated with type 2 diabetes in Han people of China, which makes base for further study of the relation between the genes they located with type 2 diabetes.</p>


Sujet(s)
Humains , Allèles , Études cas-témoins , Diabète de type 2 , Génétique , Ethnies , Prédisposition génétique à une maladie , Dépistage génétique , Génotype , Polymorphisme de nucléotide simple , Protéine kinase C , Génétique , Urotensines , Génétique
SÉLECTION CITATIONS
DÉTAIL DE RECHERCHE