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1.
Background Congenital heart disease (CHD) is the most common developmental anomaly in newborns. The germline mutations in GATA4 and NKX2.5 genes have been identified as responsible for CHD. The frequency of GATA4 and NKX2.5 mutations in Chinese Uygur patients with CHD and the correlation between their genotype and CHD phenotype are unknown.
Methods We examined the coding region of GATA4 and NKX2,5genes in 62 Chinese Uygur patients with CHD and 117 Chinese Uygur individuals as the controls by denaturing high pedormance liquid chromatography (DHPLC) and sequencing.
Results Two heterozygous missense mutations of c.1220C〉A and c.1273G〉A in GATA4 gene, which cause the amino acid residue changes of P407Q and D425N in GATA4, were found in a patient with tetralogy of Fallot and a patient with ventricular septal defect, respectively. The two patients did not have atrioventricular conduct defects or non-cardiac abnormalities. The two mutations are expected to affect the protein function. There were no reported NKX2.5 mutations in the patients.
Conclusion Our results provided the primary data on CHD phenotype associated with GATA4 mutation in the Chinese Uygur population.  相似文献   

2.
3.
Background Waardenburg syndrome type I (WS1) is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmental abnormalities of the eye, hair and skin, and dystopia canthorum. The gene mainly responsible for WS1 is PAX3 which is involved in melanocytic development and survival. Mutations of PAX3 have been reported in familiar or sporadic patients with WS1 in several populations of the world except Chinese. In order to explore the genetic background of Chinese WS1 patients, a mutation screening of PAX3 gene was carried out in four WS1 pedigrees. Methods A questionnaire survey and comprehensive clinical examination were conducted in four Chinese pedigrees of WSI. Genomic DNA from each patient and their family members was extracted and exons of PAX3 were amplified by PCR. PCR fragments were ethanol-purified and sequenced in both directions on an ABl_Prism 3100 DNA sequencer with the BigDye Terminator Cycle Sequencing Ready Reaction Kit. The sequences were obtained and aligned to the wild type sequence of PAX3 with the GeneTool program. Results Two nonsense PAX3 mutations have been found in the study population. One is heterozygous for a novel nonsense mutation S209X. The other is heterozygous for a previously reported mutation in European population R223X. Both mutations create stop codons leading to truncation of the PAX3 protein. Conclusions This is the first demonstration of PAX3 mutations in Chinese WS1 patients and one of the few examples of an identical mutation of PAX3 occurred in different populations.  相似文献   

4.
Background Hemophilia A (HA) is an X-linked inherited bleeding disorder caused by decreased activity of factor Ⅷ(FⅧ) due to heterogenous mutations in the FⅧ coding gene (F8). The type of mutation plays an important role in the FVIII inhibitor formation. To date, several studies on the spectra of F8 defects have been performed in Western populations, but similar studies in Asian races are scarce. Here, we reported the distribution of the F8 gene mutations in 18 unrelated Chinese patients with HA. Methods Intron 22 and intron 1 inversions in the F8 gene were screened in 158 unrelated patients with HA using a long-distance PCR and multiplex PCR method. Direct sequencing of the coding region of the F8 gene was used to identify the mutations responsible for HA in 18 unrelated Chinese HA patients who were negative for intron 22 and intron 1 inversions; sequences were compared with the HAMSTERS database. A clotting method was used to assay the FⅧ activity level and the Bethesda assay was used to detect the FⅧ inhibitor. Results A total of 18 different HA F8 mutations were identified, seven of which were described for the first time. These novel mutations included five small deletions, one point mutation and one small insertion. One novel mutation (4382-3 AC deletion) was associated with inhibitor development. Conclusion These data extend our insight into the mechanisms by which novel amino acid mutations may lead to HA and how the HA patient genotypes influence the risk of FⅧ inhibitor.  相似文献   

5.
Objective To evaluate the prevalence of rhodopsin (RHO) mutations and the genotype-phenotype relationships in Chinese patients with autosomal dominant retinitis pigmentosa (ADRP) by conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing. Methods We have screened the five coding exons and splice sites of RHO gene in 27 probands who had no relativity from Chinese ADRP families and 100 normal controls to identify disease-associated mutations, using CSGE and direct DNA sequencing. Family members of some probands with disease-associated mutations were also genotyped to determine whether the RHO mutations segregated with retinitis pigmentosa (RP) in their families. Two RHO mutations, Pro347Leu and Pro327 (l-bp del), were identified separately in two families, thus the frequency of RHO mutations among this set of Chinese ADRP families is about 7.4% (2/27). Pro347Leu mutation was found in one ADRP proband as well as three her children who also had RP. She had relatively early onset at about 17 years.The only one child without this mutation had no symptom or sign of RP at age of 34. Pro327 (l-bp del) was identified in a late-onset ADRP patient, who appeared night blindness around 30 years old and in her fifties electroretinogram (ERG) has been fiat in both scotopic and photopic phases. Family analysis showed that this mutation also existed in her younger daughter and her elder sister, both of them also had RP. Three other family members were genotypically and phenotypically normal. Neither of the two mutations was detected in 100 normal controls. Conclusions The frequency of RHO mutations in Chinese patients was lower than that in Europe and North America.The phenotype of the patients with Pro347Leu corresponded to type 1 ADRP, with severe rod degeneration and some cone preservation later, while the phenotype of the patients carrying Pro327 (l-bp del) corresponded to type 2 ADRP, with a concomitant loss of rod and cone visual function. CSGE was found to be a sensitive, simple, and practical method for the screening of a large number of samples under highly reproducible conditions, and could be utilized in routine molecular diagnostic laboratories.  相似文献   

6.
Background Numerous mitochondrial DNA mutations are significantly correlated with development of diabetes. This study investigated mitochondrial gene, point mutations in patients with type 2 diabetes and their families.
Methods Unrelated patients with type 2 diabetes (n=826) were randomly recruited; unrelated and nondiabetic subjects (n=637) served as controls. The clinical and biochemical data of the participants were collected. Total genome was extracted from peripheral leucocytes. Polymerase chain reaction, restriction fragment length poiymorphism (PCR-RFLP) and cloning techniques were used to screen mitochondrial genes including np3316, np3394 and np3426 in the ND1 region and np3243 in the tRNA^Leu(UUR).
Results In 39 diabetics with one or more mitochondrial gene point mutations, the prevalence (4.7%, 39/826) of mtDNA mutations was higher than that (0.7%, 5/637) in the controls. The identical mutation was found in 23 of 43 tested members from three pedigrees. Affected family members presented with variable clinical features ranging from normal glucose tolerance to impaired glucose tolerance (IGT) (n=2), impaired fasting glucose (IFG) (n=1) to type 2 diabetes (n=13) with 3 family members suffering from hearing loss.
Conclusions Type 2 diabetes in China is associated with several mitochondrial gene mutations. Aged patients with diabetic family history had a higher prevalence of mutation and various clinical pictures. Mitochondrial gene mutation might be one of the genetic factors contributing to diabetic familial clustering.  相似文献   

7.
Background Mutations in the fibrillin-1 gene have been identified in patients with Marfan syndrome (MFS). This study aimed to identify the molecular defects in the fibrillin-1 gene in a Chinese family with Marfan syndrome, accompanied by aortic aneu rysms/dissection. Methods Two patients and one non-carrier in the family underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the family as well as 50 healthy normal controls. Polymerase chain reaction amplification and direct sequencing of all 65 coding exons of fibrillin-1 gene were analyzed. Results We found a novel mutation (c.8547T〉G, p.Tyr2849X) in exon 65 of fibrillin-1 gene in a Chinese proband with Marfan syndrome, accompanied by aortic aneurysms/dissection. Sudden death at a young age of affected members was seen due to aortic aneurysms/dissection. By evaluating genotype-phenotype correlations of patients with mutations in the 3' end of fibrillin-1 gene (exons 64 and 65), we also found that the presence of nonsense mutations occurring in exons 64 and 65 appeared to be an indicator of early-onset aortic risk and sudden death. Conclusions These results expand the mutation spectrum of fibrillin-1 gene and help in the study of the molecular pathogenesis of Marfan syndrome, indicating that mutations occurring in the 3' end of fibrillin-1 gene may play an independent functional role in the pathogenesis of Marfan syndrome.  相似文献   

8.
Cao S  Wang L  Qin Y  Lin J  Wu B  Liu S  Pan X  Du L  Chen B 《中华医学杂志(英文版)》2003,116(10):1535-1538
Objective To screen the point mutation of the low-density lipoprotein receptor (LDL-R) gene in Chinese familial hypercholesterolemia (FH) patients, characterize the relationship between the genotype and the phenotype and discuss the molecular pathological mechanism of FH. Methods A patient with clinical phenotype of homozygous FH and her parents were investigated for mutations in the promoter and all eighteen exons of the LDL-R gene. Screening was carried out using Touch-down PCR and direct DNA sequencing; multiple alignment analysis by DNASIS 2.5 was used to find base alteration, and the LDL-R gene mutation database was searched to identify the alteration. In addition, the apolipoprotein B gene (apo B) was screened for known mutations (R3500Q) that cause familial defective apo B100 (FDB) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Results Two new heterozygous mutations in exons 4 and 9 of the LDL-R gene were identified in the proband (C122Y and T383I) as well as her parents. Both of the mutations have not been published in the LDL-R gene mutation database. No mutation of apo B100 (R3500Q) was observed. Conclusion Two new mutations (C112Y and T383I) were found in the LDL-R gene, which may result in FH and may be particularly pathogenetic genotypes in Chinese people.  相似文献   

9.
A novel CFTR mutation found in a Chinese patient with cystic fibrosis   总被引:4,自引:0,他引:4  
Background Cystic fibrosis (CF) is rare in Chinese. We investigated the mutations in the gene of cystic fibrosis transmembrane conductance regulator ( CFTR ) in a Chinese CF patient and reviewed the clinical features, gene mutations in Chinese CF cases. Methods Blood samples were collected from a previously reported CF girl and her parents. The 24 coding exons of CFTR of the proband were amplified and sequenced. Results A Chinese girl of 16 years old was diagnosed as CF at the age of 14. She had recurrent productive cough with bronchiectasis in bilateral upper lobes, parasinusitis and otitis media, but without pancreatic involvement. Her sweat chloride was (108.9 ±3.3) mmol/L. A heterozygous novel missense mutation of 699 C → A which results in the amino acid change of N189K was identified in exon 5. In addition, a heterozygous 3821-3823 delT mutation in exon 19 was found in CFTR . The mutation 699C → A was inherited from her father, and the 3821-3823delT mutation was from her mother. Twenty patients with CF in Chinese reported from 1974 to 2004 were also reviewed. DelF508 mutation was not found in the nine cases whose CFTR mutations were analyzed. Conclusions The CF proband carries two heterozygous mutations (699C → A and 3821-3823delT) in CFTR . 699C → A mutation is a novel mutation which is not reported previously. Review of reported Chinese cases suggests that the genotype of Chinese CF may be different from those of white cases. More studies are needed to understand the spectra of CFTR and clinical CF features in Chinese.  相似文献   

10.
Background The mutation frequencies of three common deafness genes (MT-RNR1 m.1555A〉G,GJB2,and SLC26A4) among patients with nonsyndromic sensorineural hearing loss (NSHL) were different in previous studies.Inconsistent selection criteria for recruiting patients could have led to differences in estimating the frequencies of genetic mutations thus resulting in different mutation frequencies among these studies.The aim of this study was to reveal the differences in the mutation spectrums of the three common genes between familial and sporadic Chinese Han patients.Methods Totally,301 familial probands and 703 sporadic patients with NSHL were enrolled in this study.Three genes,MT-RNR1 m.1555A〉G,GJB2,and SLC26A4,were screened for mutation in our study cohort.A X2 test was performed to compare the mutation frequencies between the two groups.Results The study showed that the disease-causing mutation frequencies of MT-RNR1 m.1555A〉G,GJB2,and SLC26A4 were 12.29%,14.62%,and 18.27% in familial probands and 3.56%,18.63%,and 18.92% in sporadic patients,respectively.The mutation frequency of MT-RNR1 m.1555A〉G in familial probands was significantly higher than in sporadic patients (X2 test,P=0.000),while there were no significant differences in the mutation frequencies of GJB2 and SLC26A4 between the familial and sporadic groups (X2 test,P 〉0.05).Conclusions It is necessary to reveal the differences in gene mutation frequencies between patients of different sources or characteristics by comparative studies in order to avoid selection bias.The mutations of GJB2,SLC26A4,and MTRNR1 m.1555A〉G are the most important etiological factors in Chinese Han patients,among which SLC26A4 might be the most frequent.  相似文献   

11.
Background Recent studies have reported germline mutations in the perforin gene (PRF1) in some types of hemophagocytic lymphohistiocytosis (HLH). However, the prevalence of PRF1 mutations in HLH in Chinese pediatric patients has not been extensively studied. The aim of this study was to investigate the prevalence of mutations and sequence variations in the PRF1 gene in Chinese pediatric patients with HLH.Methods Polymerase chain reaction (PCR) was performed with five pairs of primers for the coding exons and the flanking intron sequences of PRF1. Sequencing of PCR products was subsequently applied in 30 pediatric patients with HLH and in 50 controls.Results Three heterozygous mutations in a coding region were found, which resulted in amino acid changes (C102F, S108N and T450M) in three patients. These mutations were not detected in control subjects. One patient had compound heterozygous mutations (S108N and T450M) in PRF1 as the background defect, and documented familial HLH type 2 (FHL2). One synonymous sequence variant (Q540Q) was observed in one patient but not in the controls. Two SNPs (A274A, H300H) in the coding region were detected in HLH patients and controls, but without differences in the heterozygosity rate between the two groups (P>0.05 for all comparisons).Conclusions We have identified three patients with three heterozygous missense mutations in PRF1; two of those three mutations (C102F and S108N) have so far been found only from Chinese patients. These findings are useful in evaluating the prevalence of PRF1 mutations in Chinese pediatric patients with HLH, and to correlate their genotype with phenotype. Some patients without familial history probably have primary HLH, which should be suspected even beyond the usual age range.  相似文献   

12.
Background  Mutations in fumarylacetoacetate hydrolase (FAH) gene can lead to tyrosinemia type 1 (HT1), a relatively rare autosomal recessive disorder. To date, no molecular genetic defects of HT1 in China have been described. We investigated a Chinese family with a HT1 child to identify mutations in FAH.
Methods  DNA sequencing was used for mutations screening in FAH gene. Real-time polymerase chain reaction (PCR) was performed to determine the FAH gene expression level. To confirm the presence of degradation by the nonsense-mediated mRNA decay pathway (NMD), the fragments containing R237X mutations were analyzed by primer introduced restriction analysis-polymerase chain reaction (PIRA-PCR) and cDNA sequencing. Finally, the effects of the mutations reported in this study were predicted by online softwares.
Results  A boy aged 3 years and 8 months was diagnosed clinically with HT1 based on his manifestations and biochemical abnormalities. Screening of FAH gene revealed two heterozygous mutations R237X and L375P transmitted from his mother and father respectively. In this pedigree, the amount of FAH mRNA relative to a healthy control was 0.44 for the patient, 0.77 for his mother and 1.07 for his father. Moreover, both PIRA-PCR and cDNA sequencing showed significant reduction of the FAH mRNA with R237X nonsense mutation. The missense mutation of L375P was not reported previously and prediction software showed that this mutation decreased the stability of protein structure and affected protein function.
Conclusions  This is the first case of HT1 analyzed by molecular genetics in China. The R237X mutation in FAH down- regulates the FAH gene expression, and the L375P mutation perhaps interrupts the secondary structure of FAH protein.
  相似文献   

13.
Background Congenital heart disease (CHD) is a diverse group of diseases determined by genetic and environmental factors.Considerable research has been done on genes associated with the development of ...  相似文献   

14.
Background  Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disease, which is a disorder with multiple organ involvement, mainly the kidney and liver. It is caused by mutations in the PKHD1 gene. Here, we reported the clinical characteristics of a case with ARPKD and analyze the genetic features of this patient as well as of his father using targeted exome sequencing and Sanger sequencing.
Methods  Genomic DNA was extracted from peripheral blood leukocytes obtained from a patient with ARPKD. The mutations were identified using exome sequencing and confirmed by Sanger sequencing.
Results  The patient was diagnosed as ARPKD based on ultrasonography and abdominal computed tomography which showed polycystic changes, multiple calcinosis of both kidneys, and multiple dilated bile ducts of the liver. Compound heterozygous PKHD1 gene mutations A979G and G5935A, which lead to substitution of an asparagine for an aspartate at amino acid 327 (N327D) and a glycine for an arginine at amino acid 1979 (G1979R) respectively, were identified using targeted exome sequencing and confirmed by Sanger sequencing for the patient. In addition, the father of the patient was identified to be a carrier of heterozygous A979G mutation of this gene.
Conclusions  We identified that the compound heterozygous PKHD1 gene mutations are the molecular basis of the patient with ARPKD. Targeted exome sequencing is suitable for genetic diagnosis of single-gene inherited diseases like ARPKD in which the pathogenic gene is a large.  相似文献   

15.
Background  Frequent premature ventricular complexes from the right ventricular outflow tract (RVOT-PVCs) are associated with left ventricular dysfunction. This study adopted two-dimensional speckle tracking imaging to evaluate global and regional left ventricular myocardial function in patients with frequent RVOT-PVCs.
Methods  This study included 30 patients with frequent RVOT-PVCs and 30 healthy subjects. Aortic systolic velocity-time integral (AoVTI) and myocardium strain in circumferential (CS), radial (RS) and longitudinal (LS) directions were evaluated by conventional echocardiography and speckle tracking imaging. All values of patients with RVOT-PVCs were recorded during sinus (PVC-S) and PVC beats (PVC-V).
Results  Significant differences were demonstrated in global CS, RS and LS between the control subjects and the PVC-V (CS: (17.46±2.48)% vs. (11.52±3.28)%, RS: (48.26±10.20)% vs. (20.92±9.78)%, LS: (19.89±2.62)% vs. (11.79±3.66)%, P <0.01), and in segmental RS and LS of nearly all the left ventricular segments. Statistical differences in segmental CS between the PVC-V and the control subjects were only observed in anterior, anteroseptal and septal segments (only seen in anteroseptal and septal segments at apex). Furthermore, V/S AoVTI (AoVTI during the PVC beat divided by AoVTI during the sinus beat, then multiplied by 100%) correlated with coupling interval (r=0.67, P <0.001) and global strain (CS: r=0.48, P=0.007; RS: r=0.65, P <0.001; LS: r=0.65, P <0.001).
Conclusions  Frequent RVOT-PVCs can induce global and regional left ventricular systolic dysfunction. The reduction of hemodynamic parameters relates to the coupling interval and the global systolic function.
  相似文献   

16.
Background  Idiopathic pulmonary fibrosis (IPF) is a chronic inflammatory interstitial lung disease with an unknown cause. Recent studies have shown that genetic factors play an important role in the pathogenesis of IPF.
Methods  To explore the genetic background of patients with IPF, a candidate gene approach was employed to screen for mutations in seven genes among members with familial IPF in mainland of China.
Results  Within six of the candidate genes, a total of 31 point mutations were identified. Among the missense mutations, the SFTPA1 exon 6 CAG>AAG (Gln238Lys) and SFTPB exon 2 CAC>CCC (His2Pro) mutations caused changes in the physical and chemical properties of amino acids. Each sequence alteration was identified in sporadic IPF patients, control specimens (pneumonia patients and healthy persons). Genotype frequencies and allele frequencies of codon 238 in exon 6 of SFTPA1 were noted significantly higher in patients with IPF than those in other two control subjects. The computational protein structure prediction by protein homology modeling confirmed differences in three-dimensional structure between mutant SFTPA1 and original SFTPA1.     
Conclusions  Although the functions of the mutant candidate genes vary, these genes may ultimately result in damage to alveolar epithelial cells, initiating the progress of pulmonary fibrosis. In particular, while pathophysiological mechanisms need to be illustrated, the Gln238Lys missense variant of exon 6 in the SFTPA1 may have potential susceptibility in the development of IPF, which was shown in patients with sporadic IPF with a statistically higher frequency.
  相似文献   

17.
Background The feasibility and safety of endoscopic thyroidectomy were evaluated by an approach of systematic review of published studies in the past decade.
Methods A database searching was performed on MEDLINE, Cochrane Database of Systematic Reviews, American College of Physicians Journal Club, Database of Abstracts of Reviews of Effects, Cochrane Central Register of Controlled Trials. Both comparative and non-comparative studies about endoscopic thyroidectomy were selected and analyzed. For the comparative studies, RevMan 4.2 was used for statistical analysis; and for the non-comparative studies, data analysis was performed by SPSS 13.0.
Results Seven comparative studies involving 367 patients (video-assisted thyroidectomy (VAT), 174 patients; conventional thyroidectomy (CT), 193 patients) were included in VAT-CT group. Age, gender, operative types, and pathological diagnosis were similar. Compared with CT, the mean operative time for VAT was significantly longer (VAT, 80.0 minutes; CT, 61.9 minutes, P 〈0.01), but the postoperative hospital stay was shorter (VAT, 1.7 days; CT, 2.5 days, P 〈0.01). The complication rate for VAT was 6.9%, while that for CT was 9.3% (P=0.35). Three studies analyzed the postoperative pain and cosmetic evaluation, and indicated that the VAT group was superior to the CT group, but there was no significant difference after a meta-analysis. Three comparative studies involving 273 patients (totally endoscopic thyroidectomy (TET), 145 patients; CT, 128 patients) were included in TET-CT group and the results generally resembled that of VAT-CT group. There were 18 and 14 non-comparative studies reporting the results of VAT and TET, respectively. The mean operative time for VAT was 76.8 minutes compared with 135.8 minutes for TET. The postoperative hospital stay was 1.8 and 3.8 days for VAT and TET respectively. The rates of conversion to open surgery for VAT and TET were similar (VAT, 2.8%; TET, 3.9%, P=0.105). The complication rate for VAT was 8.  相似文献   

18.
Health authorities in Shanghai said yesterday that investigations have found no contamination at the city's umbilical cord blood bank and gave the assurance that supplies remain safe for use.  相似文献   

19.
Background Tumstatin is a recently developed endogenous vascular endothelial growth inhibitor that can be applied as an anti-angiogenesis and antineoplastic agent. The study aimed to design and synthesize the small molecular angiogenesis inhibition-related peptide (peptide 21), to replicate the structural and functional features of the active zone of angiogenesis inhibition using tumstatin and to prove that synthesized peptide 21 has a similar activity: specifically inhibiting tumor angiogenesis like tumstatin. Methods Peptide 21 was designed and synthesized using biological engineering technology. To determine its biological action, the human umbilical vein endothelial cell line ECV304, the human ovarian cancer cell line SKOV-3 and the mouse embryo-derived NIH3T3 fibroblasts were used in in vitro experiments to determine the effect of peptide 21 on proliferation of the three cell lines using the MTT test and growth curves. Transmission electron microscopy (TEM) and flow cytometry (FCM) were applied to analyze the peptide 21-induced apoptosis of the three cell lines qualitatively and quantitatively. In animal experiments, tumor models in nude mice subcutaneously grafted with SKOV-3 were used to observe the effects of peptide 21 on tumor weight, size and microvessel density (MVD). To initially investigate the role of peptide 21, the effect of peptide 21 on the expression of vascular endothelial growth factors (VEGFs) by tumor tissue was semi-quantitatively analyzed. Results The in vitro Ml-r test and growth curves all indicated that cloned peptide 21 could specifically inhibit ECV304 proliferation in a dose-dependent manner (P 〈0.01); TEM and FCM showed that peptide 21 could specifically induce ECV304 apoptosis (P 〈0.01). Results of in vivo experiments showed that tumors in the peptide 21 group grew more slowly. The weight and size of the tumors after 21 days of treatment were smaller than those in the control group (P 〈0.05), with a mean tumor inhibition rate of 67.86%; MVD  相似文献   

20.
Liu LF  Wang L  Fu Q  Zhu Z  Xie J  Han Y  Liu ZY  Ye M  Li TS 《中华医学杂志(英文版)》2012,125(11):1931-1935
Background  The pharmacokinetics of zidovudine (AZT) are possibly influenced by weight, age, sex, liver and renal functions, severity of disease, and ethnicity. Currently, little information is available on the steady-state pharmacokinetics of AZT in Chinese HIV-infected patients. The current study aimed to characterize the steady-state pharmacokinetics of AZT in a Chinese set-up.
Methods  Eleven Chinese HIV-infected patients were involved in the steady-state pharmacokinetic study. In total, 300 mg of AZT, as a part of combination therapy, was given to patients, and serial blood samples were collected for 12 hours. The samples were measured by a high-performance liquid chromatography (HPLC) assay, and the results were analyzed by both the non-compartment model and the one-compartment model.
Results  The Cmax of AZT in Chinese patients was higher than that in non-Asian patients. The half-life of AZT, analyzed by the non-compartment model (P=0.02), in male patients ((1.02±0.22) hours) was shorter than that of AZT in female patients ((1.55±0.29) hours). The AZT clearance, analyzed by the one-compartment model (P=0.045), in male patients ((262.60±28.13) L/h) was higher than that in female patients ((195.85±60.51) L/h).

Conclusion  The present study provides valuable information for the clinical practice of AZT-based highly active antiretroviral therapy in a Chinese set-up.

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