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PubMed1994

Hepatitis C virus RNA and antibodies among blood donors in Beijing.

Blood units from voluntary as well as commercial donors in Beijing, China, were tested for hepatitis C virus RNA and antibodies, and for serological markers of hepatitis B virus infection. HCV RNA was detected less frequently in 1909 voluntary donors (5 (0.3%)), than in 1017 commercial donors (58 (5.7%)) (p < 0.001). Antibody to hepatitis C virus was detected by the second-generation enzyme immunoassay in 55 (87%) of 63 blood units with viremia. Evidence of present or past infection with hepatitis B virus was common both in voluntary (43.9%) and commercial (46.4%) donors. There were eight (13%) sera with HCV-RNA in which hepatitis C virus antibodies were not detectable by second-generation enzyme immunoassay. Of 63 HCV-RNA samples from donors, 33 (52%) were of genotype II, 18 (29%) of III and one (2%) of II + III. HCV-RNA in the remaining 11 (17%) were not classifiable into any of the genotypes I, II, III, IV and V. Genotype II was more frequent in viremic donors with elevated alanine aminotransferase levels (13/18 or 72%) than in those with normal levels (20/45 or 44%). These results indicate a low prevalence of hepatitis C virus infection in the general population in Beijing, and the limitations of identifying sera with viremia by second-generation enzyme immunoassay.

Adult↗

PubMed2002

Angiotensin-converting enzyme gene insertion/deletion polymorphism in Kuwaiti children with retinopathy of prematurity.

Retinopathy of prematurity (ROP) is a disease characterized by neovascularization which occurs in infants with short gestational age and low birth weight and can lead to retinal detachment and blindness. In a proportion of ROP cases, the disease progresses to advanced stages despite rigorous intervention. The genotypes for angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism were determined in 181 premature Kuwaiti infants using a polymerase chain reaction (PCR) method. The incidence of different I/D genotypes was compared in ROP cases (n = 74) and non-ROP controls (n = 107) and within 2 subgroups of ROP patients: (1) in which ROP regressed spontaneously (stages 1-3, n = 53), and (2) in which ROP progressed to advanced stages (stages 4 and 5, n = 21). When the ROP cases were considered collectively as one group, the incidence of the DD genotype was almost identical to that of non-ROP controls. The incidence of heterozygous ID genotype was higher in non-ROP controls. The incidence of the II genotype was higher in ROP cases compared to non-ROP controls (p < 0.01). In contrast to this, when ROP cases were divided in 2 subgroups the incidence of the DD genotype was significantly higher in advanced stage ROP cases compared to spontaneously regressing ROP cases (p < 0.04). The incidences of ID and II genotypes were not significantly different amongst the 2 subgroups of ROP patients.

DNA Transposable Elements↗

PubMed2004

The relationship between COLI A1 polymorphisms (Sp 1) and COLI A2 polymorphisms (Eco R1 and Puv II) with bone mineral density in Chinese men and women.

Polymerase chain reaction was used to amplify across variable restriction sites of the COLI A1 and COLI A2 genes that encode the alpha 1 and 2 subunits of type I collagen. The relationship between these polymorphisms and bone mineral density (BMD) was studied in 683 Chinese men and women. In 100 men and women, COLI A1 Sp1 polymorphism was not found, which was consistent with other previous studies in Asian populations. However a statistically significant relationship was observed between COLI A2 Eco R1 and Puv II genotypes among the Chinese men studied. The mean BMD was consistently lower in men of the EE and PP genotype (P < 0.05 by analysis of variance [ANOVA]) than in men of the ee and pp genotypes. However, no association between BMD and the Eco R1 or Puv II genotypes was observed in Chinese women (P > 0.05 by ANOVA). We conclude that the COLI Al Sp1 binding site is absent in Hong Kong Chinese, whereas the COLI A2 Eco R1 and Puv II genetic polymorphisms may be associated with the BMD of elderly Chinese men.

Age Factors↗

PubMed2002

Varied assembly and RNA editing efficiencies between genotypes I and II hepatitis D virus and their implications.

The mechanisms that link genotypes of hepatitis D virus (HDV) with clinical outcomes have not yet been elucidated. Genotypic variations are unevenly distributed along the sequences of hepatitis delta antigens (HDAgs). Of these variations, the packaging signal at the C-terminus has a divergence of 74% between genotypes I and II. In this report, we address the issue of whether these high variations between genotypes affect assembly efficiency of HDV particles and editing efficiency of RNA. Viral package systems of transfection with expression plasmids of hepatitis B surface antigen and HDAgs or whole genomes of HDV consistently indicate that the package efficiency of genotype I HDV is higher than that of genotype II. Segment swapping of large-form HDAg indicates that the C-terminal 19-residue region plays a key role for the varied assembly efficiencies. Also, the editing efficiency of genotype I HDV is higher than that of genotype II. The nucleotide and structural changes surrounding the editing site may explain why genotype II HDV has a low RNA editing efficiency. The findings of in vitro assembly systems were further supported by the observations that patients infected with genotype II had significantly lower alanine transaminase (ALT) levels, more favorable outcomes (P <.05), and a trend to have lower serum HDV RNA levels as compared with those infected with genotype I HDV (P =.094). In conclusion, genotype II HDV secretes fewer viral particles than genotype I HDV does, which in turn may reduce the extent of infection of hepatocytes and result in less severe hepatic inflammation.

Adult↗

PubMed2007

Molecular epidemiologic analysis of group A rotaviruses in adults and children with diarrhea in Wuhan city, China, 2000-2006.

To compare epidemiologic features and genetic characteristics of group A rotaviruses causing diarrhea in children and adults, a survey was conducted in Wuhan, China, during the period of Dec. 2000-May 2006. A total of 3839 stool specimens from diarrheal patients from eight hospitals were analyzed. Winter seasonality was observed for rotavirus diarrhea in both adults and children, showing overall rotavirus-positive rates of 9.0 and 23.9%, respectively. Throughout the study period, G3 was the most frequent G serotype in both adults and children (detection rates 86.2 and 87.8%, respectively), and was mostly associated with VP4 genotype P[8], VP 6 genotype II (subgroup II), and NSP4 genotype B. G3 rotaviruses were differentiated into eight electropherotypes, among which seven types were found in specimens from both adults and children. VP7 gene sequences of G3 rotaviruses from adults and children (6 and 4 strains, respectively), detected in different years and different hospitals, showed extremely high sequence identities (99-100%) to each other and to a few G3 rotavirus strains reported in Asia. However, lower sequence identities (82-96%) were observed to most of the human and animal G3 rotaviruses reported so far, including some Chinese strains. These findings indicate that in Wuhan, China, epidemic and genetic features of rotaviruses are similar in adults and children, and it has been suggested that G3 rotaviruses that might have originated from the same rotavirus were circulating among children and adults as prevailing viruses. In this study, two rotavirus strains, G9P[8] strain L169, derived from an adult, and G4P[6] strain R479, derived from a child, were isolated and genetically analyzed. The VP7 gene of L169 belongs to a major lineage of G9 rotaviruses that are globally widespread, but is distinct from G9 rotaviruses reported previously in China. The strain R479 had a VP7 gene which was divergent from most G4 human rotaviruses and showed an unusual dual subgroup specificity, I + II. The R479 VP6 gene does not belong to the main clusters of subgroup I and II rotaviruses phylogenetically, but is related to those of the porcine rotaviruses and some unusual human rotaviruses represented by the RMC321 strain isolated in eastern India.

Adolescent↗

PubMed2005

Insertion/deletion polymorphism of the ACE gene and adherence to ACE inhibitors.

AIMS: We investigated whether the insertion/deletion (I/D) polymorphism of the ACE gene modified the adherence to ACE inhibitors as measured by the discontinuation of an ACE inhibitor, or addition of another antihypertensive drug. METHODS: This was a cohort study among 239 subjects who started ACE inhibitor therapy. A Cox proportional hazard model was used to calculate relative risk (RR). RESULTS: During follow-up there was no significant difference between subjects with the DD, ID or II genotype (DD vs II; RR = 1.17, 95%CI: 0.78, 1.77 and ID vs II; RR = 1.06, 95%CI: 0.73, 1.55) in adherence. CONCLUSIONS: The I/D polymorphism of the ACE gene does not influence the adherence to ACE inhibitors.

Aged↗

PubMed2004

Angiotensin I-converting enzyme gene insertion/deletion polymorphism and endometrial human cancer in normotensive and hypertensive women.

Endometrial carcinoma is one of the most common gynecological malignancies. Most cases are diagnosed in older patients with diabetes, hypertension, or obesity. The renin-angiotensin system (RAS) has a central role controlling blood pressure and sodium homeostasis. RAS polymorphisms have been reported as genetic determinants of essential hypertension. The objective of this study was to analyze angiotensin I-converting enzyme gene insertion/deletion polymorphism and endometrial human cancer in normotensive and hypertensive women. The presence of an angiotensin converting enzyme (ACE) polymorphism was analyzed by polymerase chain reaction in DNA isolated from peripheral blood samples of 171 women: 70 cases with endometrial cancer (age, 63.6 +/- 9.5 years) and 101 normal control women (age, 61.3 +/- 6.4 years). We detected DD genotype in 47.5%, ID genotype in 44.3%, and II genotype in 8.2% of cases. The allele frequency was 0.69 for D allele and 0.30 for I allele. In normotensives, we found that the presence of I allele (genotypes ID and II) is significantly associated to an earlier age (56.0 +/- 10.1 versus 65.8 +/- 9.9) of onset of endometrial carcinoma (P=0.029). We observed that normotensive women carriers of an allele I have a higher risk of development of endometrial cancer under the age of 63 years (odds ratio=3.60, 95% confidence interval=1.03-12.56; P=0.037). Our findings suggest that ACE polymorphism may be associated with the development of endometrial carcinoma and with the onset of this tumor in younger women. The definition of a pharmacogenomic profile of human neoplasia may help to identify targets for the development of therapeutic or chemoprevention strategies.

Age Factors↗

PubMed2006

MHC Class II DRB genotyping is highly predictive of in-vitro alloreactivity in the common marmoset.

The common marmoset (Callithrix jacchus) is emerging as a promising alternative pre-clinical model for transplantation and immunological research. It is therefore important to establish a rapid and reliable method of confirming alloreactivity between donor-recipient pairs. In this study of a large marmoset colony (n=49), we firstly characterised MHC Class II genes (Caja-DRB*W1201, Caja-DRB1*03, Caja-DRB*W16) using, for the first time in this species, sequence-based allelic typing techniques. Exon 2 was amplified using M13-tailed PCR primers specific for known marmoset alleles, and sequenced using universal M13 sequencing primers and dye terminator cycle sequencing. Twenty-six genotypes involving monomorphic Caja-DRB*W1201, 8 Caja-DRB*W16 and 5 Caja-DRB1*03 alleles were observed. Two new DRB*W16 alleles were identified. Subsequently we investigated whether matching at MHC-DRB loci alone could accurately predict in-vitro alloreactivity as assessed by mixed lymphocyte reactions. Peripheral blood mononuclear cells (PBMC) isolated from fully and partially DRB-matched and fully mismatched animal pairs were mixed and co-cultured for T-cell proliferation. PBMC co-cultured from fully or partially mismatched pairs exhibited significant T cell proliferation above single cell controls (p<0.01). Mixed PBMC from fully DRB-matched pairs exhibited no proliferation over controls (p=0.3). Thus using Caja-DRB genotyping, suitably alloreactive donor-recipient pairs can be rapidly and accurately identified for use in further studies of cellular and solid organ transplantation.

Alleles↗

PubMed1999

Phylogenetic analysis of hepatitis E virus isolates from Egypt.

Hepatitis E virus (HEV) genome was detected by reverse transcriptase-polymerase chain reaction (RT-PCR) in fecal samples of two sporadic cases of hepatitis E in Cairo Egypt. Sequence of the complete putative structural region [open reading frame (ORF)-2] and complete region of unknown function (ORF-3) was determined for the two HEV isolates. Phylogenetic analysis of the nucleotide sequences was performed using neighbor joining or maximum parsimony methods of tree reconstruction. Direct correspondence between the HEV evolutionary trees and geographic origin of the HEV isolates was observed. Three genotypes of HEV were identified: genotype I (Asia-Africa), genotype II (US), and genotype III (Mexico). Genotype I was further divided into two subgenotypes (Asia and Africa). In the Asian subgenotype, three smaller genetic clusters were observed (China-like sequences, Burma-like sequences, and sequence from a fulminant case of HEV). The segregation of all these genetic clusters was supported by the high level of bootstrap probabilities. Four regions of the HEV genome were used for phylogenetic analysis. In all four regions, Egyptian HEV isolates were grouped in a separate African clade.

Adult↗

PubMed2005

The relationship between ACE insertion/deletion polymorphism and coronary artery disease with or without myocardial infarction.

OBJECTIVES: Presence of the D allele or homozygosity for the deletion (D) allele of the angiotensicen-converting enzyme (ACE) insertion/deletion (I/D) polymorphism has been discussed as potent risk factor for coronary artery disease (CAD) and myocardial infarction (MI). The D allele is associated with higher levels of circulating ACE and therefore may predispose one to cardiovascular damage. DESIGN AND METHODS: The study presented here was performed to investigate the association between the ACE genotype and ACE levels. The study group was comprised of 118 angiographically verified CAD patients. 65 patients were MI (+) and 53 patients were MI (-) in this group. A total of 70 healthy individuals were taken as controls. Genomic DNA of 188 subjects was extracted from whole blood. The polymerase chain reaction was used for ACE genotyping, and ACE levels were measured by ELISA. RESULTS: The D allele was found to be significantly more frequent in patients with MI (+) compared with controls (P = 0.024). ACE levels were significantly higher in both MI (-) and MI (+) groups with CAD patients than in controls (P < 0.005). Plasma ACE level was higher in all three groups in the DD genotype compared to II genotype. In groups I and III, this was statistically significant (P < 0.0001, P < 0.01). CONCLUSIONS: It was shown that the I/D polymorphism in the gene for ACE is a genetic risk factor for CAD patients who have a history of MI. ACE insertion/deletion gene polymorphism is also associated with plasma ACE levels in CAD patients with a history of MI.

Base Sequence↗

PubMed2005

Genotypes of Cryptosporidium from Sydney water catchment areas.

AIMS: Currently cryptosporidiosis represents the major public health concern of water utilities in developed nations and increasingly, new species and genotypes of Cryptosporidium are being identified in which the infectivity for humans is not clear. The complicated epidemiology of Cryptosporidium and the fact that the majority of species and genotypes of Cryptosporidium cannot be distinguished morphologically makes the assessment of public health risk difficult if oocysts are detected in the raw water supplies. The aim of this study was to use molecular tools to identify sources of Cryptosporidium from the Warragamba catchment area of Sydney, Australia. METHODS AND RESULTS: Both faecal and water samples from the catchment area were collected and screened using immunomagnetic separation (IMS) and immunofluorescence microscopy. Samples that contained Cryptosporidium oocysts were genotyped using sequence and phylogenetic analysis of the 18S rDNA, and the heat-shock (HSP-70) gene. Analysis identified five Cryptosporidium species/genotypes including C. parvum (cattle genotype), C. suis, pig genotype II, the cervid genotype and a novel goat genotype. CONCLUSIONS: Monitoring and characterization of the sources of oocyst contamination in watersheds will aid in the development and implementation of the most appropriate watershed management policies to protect the public from the risks of waterborne Cryptosporidium. SIGNIFICANCE AND IMPACT OF THE STUDY: This study has shown that quantification by IMS analysis can be combined with the specificity of genotyping to provide an extremely valuable tool for assessing the human health risks from land use activities in drinking water catchments.

Animals↗

PubMed2004

Genotype prevalence, viral load and outcome of hepatitis B virus precore mutant infection in stable patients and in patients after liver transplantation.

OBJECTIVE: The precore mutant is detectable in most Israeli patients with persistent hepatitis B virus (HBV) infection. The aim of this study was to determine the prevalence of HBV genotypes, viral load and outcome of precore mutant infection in stable patients and in patients after liver transplantation. METHODS: The prevalence of HBV genotype and viral load were investigated in 81 patients with HBV precore mutant infection. Of these, 50 patients (40 males, 10 females; mean age 43.4 +/- 11.0 yr) underwent liver transplantation and were serum HBV DNA-negative by hybridization at the time of transplantation. Patients received long-term HBV immunoprophylaxis and immunosuppression, and lamivudine in cases of graft HBV recurrence. The remaining 31 patients were stable, with serum anti-HBe-positivity. Genotypes were tested by restriction fragment length polymorphism of an S gene amplicon. Precore mutations were studied with an INNO-LiPA probe assay. RESULTS: Follow-up was 46.6 +/- 37.7 months. Most of the transplanted group was of Middle Eastern origin (53.6%); the remainder were from Eastern Europe (21.4%), Western Europe and the USA (10.8%), Africa (7.1%), and Asia (7.1%). In the transplanted group, the pre-transplant HBV genotype D was the most prevalent (96%), while genotype A was found in only 4%. Eleven patients (22%) developed recurrent HBV infection post-transplantation. There were no differences in genotype distribution between patients with graft reinfection or lamivudine resistance and patients without recurrence. Mean viral load at recurrence was 148.4 x 10(6) +/- 60.4 x 10(6) copies/mL. The stable group had a similar origin and HBV genotype prevalence, but a lower mean viral load of 12.4 x 10(6) +/- 29.4 x 10(6) copies/mL (p = 0.007). The prevalence of mutations at the precore region and codon 28 was similar in both groups. CONCLUSIONS: The chronic precore mutant HBV-infected patients were characterized as follows: (i) genotype D was the most frequent genotype, (ii) the HBV genotype distribution was similar in patients with stable infection and after liver transplantation, (iii) viral load at recurrence was significantly higher than in stable infection, and (iv) HBV genotype was unrelated to the development of recurrence or lamivudine resistance in the tested population.

Adult↗

PubMed2000

A role of angiotensin-converting enzyme gene polymorphism in left ventricular remodeling after myocardial infarction.

BACKGROUND: Left ventricular remodeling (LVR) process is one of the important secondary sequele after acute myocardial infarction (AMI). However, little is known about the relationship between LVR and angiotensin converting enzyme (ACE) gene polymorphism as well as endothelial nitric oxide synthase (ecNOS) gene polymorphism. METHODS: Coronary angiography and left ventriculography were performed within 24 hours and 30+/-7 days after AMI onset. All consecutive 24 patients (57+/-6 years) had acute anterior MI with one vessel disease of left anterior descending artery and successful revascularization therapy during acute phase. Patients were divided into three groups according to the change of end-diastolic volume index (EDVI)(Delta EDVI = EDVI 1 month-EDVI within 24 hrs); LVR(+) (Delta EDVI>7.0 ml/m(2), n = 5), LVR (-)(Delta EDVI<-7.0 ml/m(2), n = 13), and LVR (+/-)(-7.0<Delta EDVI<7.0 ml/m(2), n = 6) groups. The polymorphisms of ACE and ecNOS gene were determined with PCR method after an extraction of genomic DNA from peripheral leukocytes. RESULTS: There were no significant difference among three groups as to baseline characteristics, including coronary risk factors, medications, serum CPKmax and patency of infarct-related artery. The incidence of DD genotype of ACE gene is significantly higher in LVR (+) than in the other two groups (0.60; 0; 0, respectively, chi(2) = 13.150, p<0.01). The incidence of D allele of ACE gene is also significantly higher in LVR (+) than in the other two groups (0.70; 0.17; 0.19, respectively, chi(2) = 10.221, p<0.01). Delta EDVI of DD genotype was significantly greater than in the other two groups (DD genotype = 30.1+/-18.1; ID genotype = -13.0+/-27.4; II genotype = -8.2+/-11.5 ml/m(2), respectively, p<0.05). There was no significant difference in ecNOS gene polymorphism among three groups. By stepwise regression analysis, the significant independent predictors of Delta EDVI were EDVI within 24 hrs and DD genotype (F = 16.88 and 8.641, respectively, p = 0.0024). CONCLUSION: These results showed that left ventricular dilatation is related to DD genotype of ACE gene after successful reperfusion therapy of anterior AMI. Thus, renin-angiotensin system may play an important role in left ventricular remodeling after AMI.

Aged↗

PubMed2000

Nationwide nucleic acid amplification testing of hepatitis B virus, hepatitis C virus and human immunodeficiency virus type 1 for blood transfusion and follow-up study of nucleic acid amplification positive donors.

This study described a program for and the results of a nationwide nucleic acid amplification testing (NAT) screening for hepatitis B virus (HBV), hepatitis C virus (HCV), and human immunodeficiency virus type 1 (HIV-1) by multiplex reagent with a pooled system. After routine serological screening, this test was used in order to be in time for blood transfusions. The Japanese Red Cross currently supplies donated blood all over Japan for blood transfusion. As of January 2000, 2,140,207 units (5,093 pools) were tested by a pool size of 500 and 19 HBV DNA-positive cases and 8 HCV RNA-positive cases were found. Since February 2000, the pool size was switched to 50 and among 420,770 units (8,564 pools), 7 HBV DNA-positive cases and 1 HCV RNA-positive case were found. HIV RNA was not detected in any of the tested pools. Among the 26 HBV DNA positives, 22 were wild type; of these, 6 (23%) had hepatitis B surface antigen (HBsAg) that was undetectable by overnight enzyme immunoassay (EIA). Except for one case, in which coexisting antibody inhibited the immune reaction, all 17 cases that were followed later showed seroconversion. In 10 of these cases, HBV DNA disappeared below the level of detection and seroconversion of IgM anti-HBc and anti-HBc antibody occurred during the observation period. The remaining 4 cases were precore mutants and all had an undetectable level of HBsAg by EIA. Three cases did not show IgM anti-HBc seroconversion, which should be observed during the early stage of HBV infection. As for the HCV RNA, the following types were identified: 2 genotype II (1b), 3 genotype III (2a), and 4 genotype IV (2b). A weak anti-HCV positive reaction was observed in two cases and strong seroconversion in one case among 4 of the cases that were followed. Although it is not 100%, NAT narrows the window period in early-stage infection, resulting in an exponential reduction of the virus load that escapes serological screening tests for blood destined for blood transfusions. In the case of HBV, NAT screening detects HBV DNA in persistently infected individuals with extremely low levels of HBV antigen and antibody often observed in the case of HBV mutants.

Antibodies, Viral↗

PubMed2003

[Vertical transmission of hepatitis C virus infection].

OBJECTIVE: To investigate the mechanism for vertical transmission of hepatitis C virus (HCV) infection. METHODS: This study included 6 pairs of mothers and fetuses who were positive for anti-HCV antibody and HCV RNA, and 2 pairs of fathers and fetus in whom the father was positive for anti-HCV and HCV RNA while the mother was negative. HCV genotypes were detected by PCR and the nucleotide sequences of HCV genome spanning the core and envelope gene region (HCV C/E1) determined and compared. RESULTS: The HCV genotypes of the mothers and fetus were consistent. Five mother-fetus pairs were of genotype II, 1 of genotype III, with high homology of HCV between the mothers and their own fetuses. In contrast, in the two father-fetus pairs, no HCV RNA was detected in the fetuses in spite of the positivity of the fathers. CONCLUSION: Vertical transmission of HCV infection from mothers to fetus is a clinical entity.

Female↗

PubMed1997

A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women.

Using specimens from a population-based case control study among women ages 18 to 44 years in western Washington, we assessed the relationship between carriership of a genetic clotting factor II variant (20210 G-->A) and myocardial infarction (MI). The factor II variant was previously shown to be present in 1% to 2% of the population, to increase the levels of factor II, and to be associated with venous thrombotic disease. Personal interviews and blood samples were obtained from 79 women with a first myocardial infarction and 381 control women identified through random-digit telephone dialing. Polymerase chain reaction (PCR) method was used to determine the factor II genotypes. The factor II 20210 G to A transition was present more often in women with MI (5.1%) than among control women (1.6%). The age-adjusted odds ratio for MI was 4.0 (95% confidence interval 1.1 to 15.1). The relative risk was high when another major cardiovascular risk factor was also present, such as smoking (odds ratio 43.3, 95% confidence interval 6.7 to 281), and the risk seemed limited to those with other risk factors. These results, in which the effect of major coronary risk factors is enhanced fourfold to sixfold by the prothrombin variant, are similar to those previously reported for another genetic clotting abnormality, factor V Leiden. We conclude that factor II 20210 G to A increases the risk of myocardial infarction in young women, especially in the women with other major risk factors for coronary heart disease.

Adolescent↗

PubMed1999

Polymerase chain reaction based human leucocyte antigen genotyping for the investigation of suspected gastrointestinal biopsy contamination.

BACKGROUND: Mislabelling or contamination of surgical specimens may lead to diagnostic inaccuracy, particularly within gastrointestinal pathology when multiple small mucosal biopsy specimens are commonly taken, and where a tiny fragment of foreign tissue may be indistinguishable from true biopsy material using histological assessment alone. AIMS: To assess the utility of polymerase chain reaction (PCR) based human leucocyte antigen (HLA) genotyping techniques for the investigation of potentially mislabelled or contaminated gastrointestinal biopsy specimens. PATIENTS: Ten cases (28 samples) in which mislabelling or contamination was suspected, comprising four upper gastrointestinal tract biopsies and six colonoscopic biopsy series. METHODS: Direct and nested PCR-sequence specific primer (SSP) based HLA class II genotyping was performed on DNA extracted from formalin fixed and paraffin wax embedded tissue (23 samples) or peripheral blood leucocytes (five samples). RESULTS: A full HLA-DRB1 genotype was determined in all 28 samples. In seven cases the HLA-DRB1 genotype of the putative contaminant was different to that of the corresponding reference tissue, confirming different individual origins for the contaminant and reference material. In one case the contaminant tissue was shown to possess the same HLA-DRB1 alleles as a second patient (probable source). In the remaining three cases the same HLA-DRB1 alleles were detected within the potential contaminant and reference tissues. CONCLUSIONS: PCR based HLA class II genotyping is a valuable tool for investigating potential contamination or mislabelling within gastrointestinal biopsy specimens and this report has confirmed contamination in seven of ten cases studied.

Adult↗

PubMed2006

[The hemostasis parameters and ACE gene polymorphism in patients with essential hypertension treated with perindopril].

PURPOSE: 1. The assessment in haemostasis system, fibrinogen, tissue plasminogen activator (t-PA) and its inhibitor type-1, von Willebrand factor and beta-thromboglobulin (beta-TG) levels and the changes in renin-angiotensin system (RAS), by determined angiotensin converting enzyme I (ACE) activity, in patients with essential hypertension (in relation to left ventricular hypertrophy) in comparison with normotension subjects. 2. The analysis of changes in haemostasis and RAS during treatment with perindopril in relation to left ventricular hypertrophy (group LVH+ and LVH-). 3. The assessment of haemostasis parameters levels and ACE activity in effect of treatment with perindopril in relation to ACE gene I/D polymorphism. MATERIAL AND METHODS: The study involved 78 male divided on two groups: cases and controls. The cases contained 44 male outpatients (25-38 years old) with untreated essential hypertension without clinical feature of coronary heart disease and 34 age- and gender- matched healthy controls. CONCLUSION: 1. Untreated essential hypertension predisposes to the procoagulant state characterised by increased Fb level and suppressed of fibrinolysis. These changes not depend on ACE gene I/D polymorphism. The left ventricular hypertrophy not intensificates the procoagulant state. 2. The treatment with perindopril decreases blood pressure effectively independent of ACE gene I/D genotype and left ventricular hypertrophy. Perindopril impairs RAS activity, most in patients with ACE gene II genotype. The treatment with perindopril is only partially effective in alleviating the procoagulant state, by reducing fibrinogen level in II homozygotes due to its more potent inhibitory action on the RAS in this group. The treatment makes fibrinolysis better mainly to high t-PA levels, independently of ACE gene I/D polymorphism. 3. Left ventricular hypertrophy not differentiates the response on treatment in relation to haemostasis parameters and RAS, however there was a slight decrease in ACE activity in patients with left ventricular hypertrophy. 4. The changes in haemostasis system and ACE activity, observed during treatment, suggest the appearance of positive relation between haemostasis and RAS. Probably the antithrombotic act of perindopril is more pronounced in II genotype group.

Adult↗