0.05).The frequency of VV genotype of Mn-SOD in the DR(+) group was significantly higher than that in the DR(-) group(92.0% vs 77.1%,P

Objective To explore the mechanism of tripterygium wilfordii hook f(TWHF)for Henoch-Schonlein purpura nephritis(HSPN,nephrotic type)in children.Methods All the children with HSPN(nephrotic type)were divided into 3 groups casually.Method of radioactive pairs conjugating analysis was used to determine the numbers of glucocorticoid(GC)receptors(GCRs).Results were statistically analysed respectively.Results GCRs tested in all the patients with HSPN(nephrotic type)before treatment were statistically lower than those in control group of normal children;GCRs in all the patients tested after 1 week treatment with GC were lower than before treatment.Three weeks later,GCRs in patients treated with TWHF increased much higher than them without TWHF.Following up the recurring times of all the patients 3 months to 5 years,they were much more in patients treated without TWHF treatment than in patients treated with it.Conclusions TWHF treatment on HSPN(nephrotic type)is obviously effective.It can not only decrease the dosage of GC,but decrease the recurring times.One of the mechanism may be TWHF can resist the down-regulation GC to GCR,and enhance the effect of GC.

0.05).Genotype CT frequency in T2DM group was significantly increased when compared with non-DM control group(P=0.012,OR=2.254).Conclusion Pro198Leu polymorphism of GPX-1 gene increases the risk of type 2 diabetes in Han Chinese of Shanghai,while T allele is not a risk factor of diabetic CHD.

0.05).Frequencies of P12A12 genotype and A12 allele in DN group were significantly decreased respectively,when compared with DN-0 group(for P12A12 genotype,9.1% vs 18.1%,P=0.034,OR=0.453;for A12 allele,4.5% vs 9.0%,P=0.041,OR=0.479). Conclusion The observations suggest that P12A polymorphism of PPAR?2 gene is associated with Chinese type 2 diabetic nephropathy,and A12 allele may protect the development of diabetic nephropathy in type 2 diabetic patients of Chinese.

Objective To explore the relationship between Arg913Gln(G→A) polymorphism of solute carrier family 12 member 3 (SLC12A3) gene and diabetic nephropathy (DN) in type 2 diabetes mellitus (T2DM) in Han population of Shanghai. Methods Two hundred and fifty-eight Han ethnic people in Shanghai with T2DM (T2DM group) were divided into non-DN group (DN0 group, n=95) and DN group (n=163) according to 24 h urine albumin excretion rate (AER), and those in DN group were subdivided into microalbuminuria group (DN1 group, n=95) and macroalbuminuria group (DN2 group, n=68). Besides, 82 people with normal results of oral glucose tolerance test (OGTT), without diabetes mellitus and nephropathy were served as controls. PCR-sequencing was used to detect the genotypes of Arg913Gln polymorphism of SLC12A3 gene. Genotypic and allelic frequencies and clinical characteristics were compared among groups. Results Three genotypes (GG, GA and AA) were detected. The frequencies of GA+AA genotype and A allele in T2DM group were higher than those in control group, while there was no significant difference between groups (P>0.05). There was no significant difference in genotypic or allelic frequencies among subgroups of T2DM group (P>0.05). The level of triglyeeride (TG), AER, level of fasting insulin (FINS) and HOMA-IR in patients with GA+AA genotype were significantly higher than those in patients with GG genotype in T2DM group (P<0.05). Conclusion Arg913Gln(G→A) polymorphism of SLC12A3 gene is not significantly associated with T2DM and DN in Han population of Shanghai. The AER of people with GA+AA genotype is significantly higher than that with GG genotype. Arg913Gln (G→A) polymorphism of SLC12A3 gene may predict the risk of increase of albuminuria in patients with T2DM in Han population of Shanghai.

0.05). Conclusion Preproghrelin-Leu72Met is not significantly associated with T2DM and DN in Shanghai Han populations,while T2DM with AA genotype is characterized by significant declination in urine microalbumin when compared with CA and CC genotypes.Leu72Met polymorphism(C→A)may postpone the development of microalbuminuria in T2DM subjects.

This study was designed to explore the influence of STI571, a tyrosine kinase inhibitor, on the expression of c-kit in the bone marrow cells from patients with acute non-lymphocytic leukemia (ANLL). The cells were exposed to various concentration of STI571 for 72 hours, the expression of c-kit mRNA and CD117 was assayed by RT-PCR and flow cytometry, respectively. The results showed that STI571 treatment induced concentration-dependent decrease of c-kit and CD117 expression, which was significant lower than that in group before treatment and untreated control groups (P < 0.05) and 0.1 micro mol/L STI571 group was significantly higher than that in 10 micro mol/L group (P < 0.05). It is concluded that STI571 has an obvious effect on the restraint of c-kit in ANLL cells.
Adolescent ; Adult ; Aged ; Antineoplastic Agents ; pharmacology ; Benzamides ; Bone Marrow Cells ; drug effects ; metabolism ; Female ; Gene Expression Regulation, Neoplastic ; drug effects ; Humans ; Imatinib Mesylate ; Leukemia, Myeloid, Acute ; blood ; genetics ; pathology ; Male ; Middle Aged ; Piperazines ; pharmacology ; Proto-Oncogene Proteins c-kit ; genetics ; Pyrimidines ; pharmacology ; RNA, Messenger ; drug effects ; genetics ; metabolism ; Reverse Transcriptase Polymerase Chain Reaction

OBJECTIVETo study the prevalence and clinical characteristics of the A to G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in familial diabetes in Shanghai, Jiangsu and Zhejiang Province of China.

METHODSThe mt3243 A to G mutation in 770 randomly selected, unrelated probands of diabetic pedigrees were screened by PCR-RFLP technique and PCR-direct sequencing. Genetic and clinical analyses were further performed in the probands and their family members.

RESULTSThirteen diabetic patients (13/770, 1.69%) with mt3243 A to G mutation were detected. Eleven diabetic patients and 8 normal glucose tolerance (NGT) first-degree relatives of these 13 probands were also found bearing the mutation. Seventeen patients were associated with sensory hearing loss. In the 24 patients harboring the mutation, the majority had lower body mass index (BMI), 18 showed typical maternal inheritance, 15 had sensory hearing loss, 13 had insulin resistance and 14 required insulin therapy due to secondary failure to oral hypoglycemic agents.

CONCLUSIONThe mutation of mt3243 A to G in the mitochondrial tRNA(Leu(UUR)) gene is an important cause of diabetes in Shanghai, Jiangsu and Zhejiang Province of China. Mitochondrial gene mutation diabetes (MDM) is clinically characterized by early onset, emaciation, maternal inheritance, sensorineural hearing loss, and lower islet beta cell function, and some have insulin resistance.

Asian Continental Ancestry Group ; genetics ; China ; epidemiology ; DNA, Mitochondrial ; genetics ; Deafness ; genetics ; Diabetes Mellitus ; genetics ; Genetic Testing ; Hearing Loss, Sensorineural ; genetics ; Humans ; Insulin Resistance ; genetics ; Molecular Sequence Data ; Mutation ; Prevalence ; RNA, Transfer, Amino Acyl ; genetics

OBJECTIVETo investigate the genetic and clinical features of mutations and sequence variations of the transcription factor 1 gene (TCF1, HNF-1A) in Chinese with familial early-onset and/or multiplex diabetes mellitus.

METHODSAll ten exons of the TCF1 gene were screened, including exon and intron junctions, by direct sequencing method in 341 unrelated Chinese subjects, including 80 healthy controls and 261 probands of early-onset and/or multiplex diabetes pedigrees.

RESULTSFive mutations were found in all. Four of the 5 different TCF1 mutations were newly identified novel mutations(T82M, Q130H, G253G, P353fsdelACGGGCCTGGAGC), mean body mass index of mutation carriers was 21.9 kg/m (2), and insulin secretion was impaired in the mutation carriers. In this study, the maturity-onset diabetes of the young type III (MODY3) only accounted for 3% of Chinese early-onset diabetes. Moreover, eleven substitutions were identified in 261 probands. Of them, three variants IVS1-8 (G-->A), IVS1 -128 (T-->G ) and IVS2+21 (G-->A) were not observed in 80 healthy controls and one of them IVS1-8 (G-->A) was not reported previously and the two promoter variants co-segregated with diabetes.

CONCLUSIONTCF1 gene is not a common cause of early-onset and/or multiplex diabetes among Chinese patients.

Adult ; Asian Continental Ancestry Group ; genetics ; China ; Diabetes Mellitus ; ethnology ; genetics ; pathology ; Female ; Gene Frequency ; Genotype ; Hepatocyte Nuclear Factor 1-alpha ; genetics ; Humans ; Male ; Mutation ; Polymerase Chain Reaction

OBJECTIVETo investigate the prevalence of mutations and sequence variations of glucokinase gene GCK in Chinese early-onset diabetes population.

METHODSThe study was conducted in 174 unrelated Chinese residents, including 80 nondiabetic controls, 94 probands of early-onset diabetes pedigree. Direct sequencing was performed to screen all 10 exons of glucokinase gene, including promoter and exon/intron junctions.

RESULTSNo mutations were identified in coding region, but several previously reported sequence variants were identified. 5'-untranslated region of exon 1a, 84 bp upstream of the translation initiation site GGCGG to GGGGG(early-onset diabetes group G allele frequency 0.106 vs control group 0.075, P=0.355); IVS1b+12 (A-->T) (early-onset diabetes group T allele frequency 0.005 vs non-identity of this variation in control group); IVS 5+29 (G-->T) (early-onset diabetes group T allele frequency 0.027 vs control group 0.019, P=0.731); IVS 9+8 (T-->C) (early-onset diabetes group C allele frequency 0.585 vs 0.694, P=0.044). A novel variation IVS 9+49 (G-->A) (early-onset diabetes group A allele frequency 0.011 vs control 0.006, P=1.000) was identified. There were no significant relationships of the exon 1a 5'-untransted region -84 bp(C-->G), IVS 5+29 (G-->T), IVS 9+8 (T-->C) and IVS 9+49 (G-->A) variants of GCK gene to the clinical variables such as plasma glucose, insulin, C-peptide and fasting lipid profile.

CONCLUSIONThe prevalence of structural mutations in glucokinase gene responsible for early-onset diabetes appears to be rare among Chinese patients.

Adult ; Base Sequence ; DNA Mutational Analysis ; Diabetes Mellitus, Type 2 ; blood ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Glucokinase ; genetics ; Humans ; Lipids ; blood ; Male ; Mutation ; Pedigree ; Polymerase Chain Reaction