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1.
Chinese Journal of School Health ; (12): 257-259, 2021.
Article in Chinese | WPRIM | ID: wpr-873660

ABSTRACT

Objective@#To investigate HPV vaccine hesitation and associated factors among female college students in Weifang, and to provide a suggestions for improving the coverage rate of HPV vaccine among female college students.@*Methods@#The questionnaire of HPV vaccine hesitancy of female college students was designed. By adopting the stratified sampling method, the survey was conducted among female students at one medical university and three nonmedical universities in Weifang. Chi-square test and Logistic regression were used to analyze the influencing factors of vaccine hesitation.@*Results@#Female college students who had high risk perception toward vaccine (OR=4.15, 95%CI=1.55-11.10) and those who were angry about the sideeffects of the vaccine (OR=3.63, 95%CI=1.95-6.75) were hesitate to vaccinate against HPV. Female college students who believed long protection period of HPV vaccine (OR=0.08, 95%CI=0.04-0.17), that women had a high probability of cervical cancer (OR=0.44, 95%CI=0.21-0.90) and that the knowledge of HPV vaccine scored >6 (OR=0.31, 95%CI=0.15-0.67) were more likely to receive HPV vaccine.@*Conclusion@#High risk perception of vaccines and anger at vaccine adverse reactions are important factors affecting HPV vaccines for female college students. Our findings call for strategic role of the state, school-based health education as well as medical professional guidance in lowering HPV vaccination hesitation among fenale college sutdents.

2.
Chinese Journal of School Health ; (12): 1824-1826, 2020.
Article in Chinese | WPRIM | ID: wpr-862207

ABSTRACT

Objective@#To analyze the consistency between self-reported oral health and proposed standard in evaluating children oral health status, and to test whether self-reported oral health can be used in children population.@*Methods@#The clinical examination data and questionnaire data were 2 158 children aged 12-year-old in Beijing, China. Child oral health status was measured by self-reported oral health and proposed standard from World Health Organization (WHO), and was classified into "good, general, poor" based on each method. Kappa test was used to evaluate the consistency of two measurements. Using multivariate nonordinal logistic regression to identify the influencing factors of self-reported oral health, and to explore the possible reasons for the consistency differences of two measurements.@*Results@#According to the WHO standard, 25.5%, 65.3% and 9.2% children oral health were rated as good, general and poor, respectively. The proportion was 50.6%, 37.7% and 11.8% respectively based on self-report method. Kappa value for two measurements was 0.04, indicating poor agreement between two methods. Results from regression model show that both the untreated caries (OR=2.47, P<0.01) and toothache (OR=3.54, P<0.01) were associated with self-reported oral health, while not observed in periodontal health (OR=1.34, P=0.18) and oral hygiene status(OR=0.95, P=0.75).@*Conclusion@#Self-reported oral health results can reflect caries status to some extents among children, but it failed to reflect other aspects, such as periodontal health status and oral hygiene. Self-reported oral health among children should be considered based on the requirements of assessment content and accuracy in the future work.

3.
Acta cir. bras ; 34(11): e201901104, Nov. 2019. graf
Article in English | LILACS | ID: biblio-1054677

ABSTRACT

Abstract Purpose: Myocardial ischemia/reperfusion (Ml/R) injury is a leading cause of damage in cardiac tissues, with high rates of mortality and disability. Biochanin A (BCA) is a main constituent of Trifolium pratense L. This study was intended to explore the effect of BCA on Ml/R injury and explore the potential mechanism. Methods: In vivo MI/R injury was established by transient coronary ligation in Sprague-Dawley rats. Triphenyltetrazolium chloride staining (TTC) was used to measure myocardial infarct size. ELISA assay was employed to evaluate the levels of myocardial enzyme and inflammatory cytokines. Western blot assay was conducted to detect related protein levels in myocardial tissues. Results: BCA significantly ameliorated myocardial infarction area, reduced the release of myocardial enzyme levels including aspartate transaminase (AST), creatine kinase (CK-MB) and lactic dehydrogenase (LDH). It also decreased the production of inflammatory cytokines (IL-1β, IL-18, IL-6 and TNF-α) in serum of Ml/R rats. Further mechanism studies demonstrated that BCA inhibited inflammatory reaction through blocking TLR4/NF-kB/NLRP3 signaling pathway. Conclusion: The present study is the first evidence demonstrating that BCA attenuated Ml/R injury through suppressing TLR4/NF-kB/NLRP3 signaling pathway-mediated anti-inflammation pathway.


Subject(s)
Animals , Male , Cardiotonic Agents/pharmacology , Myocardial Reperfusion Injury/prevention & control , NF-kappa B/drug effects , Genistein/pharmacology , Toll-Like Receptor 4/drug effects , NLR Family, Pyrin Domain-Containing 3 Protein/drug effects , Aspartate Aminotransferases/blood , Reference Values , Myocardial Reperfusion Injury/metabolism , Signal Transduction/drug effects , Blotting, Western , Reproducibility of Results , Cytokines/blood , NF-kappa B/metabolism , Rats, Sprague-Dawley , Creatine Kinase/blood , Lactate Dehydrogenases/blood , Toll-Like Receptor 4/metabolism , Anti-Inflammatory Agents/pharmacology
4.
Article in Chinese | WPRIM | ID: wpr-798334

ABSTRACT

@#Objective:To investigate the role of cyclo-oxygenase-2 (COX-2) in breast cancer metastasis and its possible mechanism. Methods: A total of 45 cases of primary breast cancer tissues and brain metastatic breast cancer tissues were collected from patients, who underwent mastectomy in Yunnan Cancer Hospital from October 2015 to April 2018, including 30 cases of primary lesions and 15 cases of brain metastasis. qPCR was used to detect the expression of COX-2 in breast cancer tissues and brain metastatic breast cancer tissues. Recombinant viruses with COX-2 over-expression (LV6-COX2) or COX-2 knockdown (LV3-COX2 shRNA1, LV3-COX2 shRNA2) were transfected into human breast cancer MDA-MB-231 cells; After obtaining the stable expression cell lines, the effect of COX-2 expression on the proliferation of MDA-MB-231 cells was detected by CCK-8, and the effects of COX-2 expression on the migration and invasion of MDA-MB-231 cells were detected by scratch test and Transwell assay, respectively. The mRNAand protein expressions of COX-2 in each group were examined by qPCR and WB, respectively. The effect of COX-2 expression on the expression of EMT-related genes in MDA-MB-231 cells was analyzed by qPCR. Results: The expression of COX-2 in tissues of patients with brain metastases was significantly higher than that in patients with primary breast cancer tissues (P<0.01), and it was correlated with tumor TMN stage in breast cancer patients. MDA-MB-231 cell lines with stable COX-2 over-expression/knockout were successfully constructed. Over-expression of COX-2 promoted the migration and invasion of MDA-MB-231 cells (all P<0.01), and significantly increased the expressions of MMP2, MMP1, N-cadherin and vimentin (all P<0.01), but exerted insignificant effect on cell proliferation. The effect of COX-2 silence exerted the opposite effect and promoted cell proliferation (P<0.05). Conclusion: COX-2 is highly expressed in brain metastatic breast cancer tissues, which may promote the migration and invasion of breast cancer MDA-MB-231 cells by regulating EMT processes.

5.
Article in Chinese | WPRIM | ID: wpr-816769

ABSTRACT

@# Objective: To investigate the effect of myeloid-derived suppressor cells (MDSCs) from mice bearing breast cancer on the function of normal B cells. Methods:ABABL/c mouse 4T1 breast cancer model was established. The spleen MDSCs of tumor-bearing mouse and normal mouse spleen B cells were sorted by magnetic beads, and the sorted MDSCs and B cells were co-incubated. Flow cytometry was used to test the effect of MDSCs on the expressions of B cell surface molecules, including PD-1, PD-L1, CTLA-4, CCR6, CD62L and MHCⅡ; ELISA assay was used to detect the secretion of IgA, IgM and IgG by B cells; BrdU kit was used to detect B cell proliferation; andAnnexin V/PI staining was used to detect B cell apoptosis. B cells in the co-culture system were again sorted by magnetic beads and were then co-cultured with T cells; BrdU kit was used to detect T cell proliferation, and Annexin V/PI was used to detect T cell apoptosis. Results: Compared with B cell control group, the expression of PD-L1 on B cells in B+MDSC group was increased (P<0.01), while the expressions of PD-1, CTLA-4, CCR6, CD62L and MHC Ⅱ were all decreased (all P<0.01); The IgA, IgM and IgG secreted by B cells were significantly increased (all P<0.01); the proliferation of B cells was increased (P<0.01) and the apoptosis was decreased (P<0.01). Compared with the T cell control group, the proliferation of T cells in the B+MDSC (1:5) +T group was significantly reduced (P<0.01); however, there was no significant difference in T cell apoptosis. Conclusion: MDSCs from breast cancer bearing mice promotes B cell proliferation and inhibits B cell apoptosis, and the MDSC-induced B cells can inhibit T cell proliferation.

6.
China Pharmacist ; (12): 310-312, 2015.
Article in Chinese | WPRIM | ID: wpr-461067

ABSTRACT

Objective:To establish an HPLC method for the determination of gallic acid,quercetin and kaempferol in Gongyanping capsules. Methods:HPLC was applied with the chromatographic conditions as follows: The chromatographic column was Agilent-SB C18 (250 mm × 4. 6 mm,5 μm) at 30℃; the mobile phrase was methanol-0. 3% phosphoric acid solution with gradient elution; the flow rate was 1. 0 ml·min-1. Results: The linearity relationship of gallic acid, quercetin and kaempferol was within the range of 98.200-491.00 μg·ml-1(r=0.999 9), 7.520-37.600 μg·ml-1(r=0.999 9) and 4.940-24.700 μg·ml-1(r=0.999 9), re-spectively;the average recovery was 96. 74%(RSD=1. 33%), 98. 18%(RSD=1. 70%) and 97. 04%(RSD=1. 28%),respective-ly. Conclusion:The method is simple, accurate and repeatable.

7.
Article in Chinese | WPRIM | ID: wpr-460909

ABSTRACT

Obesity is an independent risk factor for hypertension.Overactivation of sympathetic nervous system caused by obesity is an important path inducing hypertension.This article made following overview on research pro-gress of overactivation mechanism of sympathetic nervous system in obesity-related hypertension.

8.
Biol. Res ; 45(2): 101-109, 2012. graf
Article in English | LILACS | ID: lil-648568

ABSTRACT

Cigarette smoke is known to be a serious health risk factor and considered reproductively toxic. In the current study, we investigated whether constituents of cigarette smoke, pyrazine, 2-ethylpyridine, and 3-ethylpyridine, adversely affect reproductive functioning such as oocyte maturation and sperm capacitation. Our findings indicated that three smoke components were involved in retardation of oocyte maturation in a dose-dependent manner and the lowest-observed-adverse-effect level (LOAEL) was determined to be 10-10M. However, individual smoke components administrated at the LOAEL did not attenuate oocyte maturation, demonstrating that all three toxicants were equally required for the observed growth impairment. When exposed to all three components at 10-10M during in vitro capacitation, murine sperm lost forward progression and were unable to show adequate hyperactivation, which is indicative of the incompletion of the capacitation process. Only sperm administrated with 3-ethylpyridine alone showed significant reduction in capacitation status, suggesting the chemical is the one responsible for disrupting sperm capacitation. Taken together, this is the first report that documents the effect of cigarette smoke components on oocyte maturation and sperm capacitation. The present findings demonstrate the adverse effects of smoke constituents of mammalian reproduction and the differences in sensitivity to smoke components between male and female gametes. Since both processes take place in the female reproductive system, our data provide new insights into deleterious consequences of maternal exposure to cigarette smoke.


Subject(s)
Animals , Female , Male , Mice , Oocytes/drug effects , Pyrazines/toxicity , Pyridines/toxicity , Smoke/adverse effects , Sperm Capacitation/drug effects , Tobacco/toxicity , Maternal Exposure/adverse effects , Oocytes/growth & development , Risk Factors , Sperm Capacitation/physiology
9.
Article in Chinese | WPRIM | ID: wpr-248613

ABSTRACT

This study investigated the expression profiles of IL-10 gene in three human hepatoma cell lines including Huh7,HepG2,and HepG2 transfected with a plasmid containing hepatitis B virus (HBV) named HepG2.2.15.RT-PCR analysis demonstrated that IL-10 message RNA was absent in HepG2 and Huh7 cells,whereas it was present in HepG2.2.15 cells,which was consistent with ELISA result.Furthermore,except for lamivudine other antiviral treatments did not significantly decrease the HBV DNA level in HepG2.2.15 cells,while they had different effects on the expression of IL-10 protein,although stimulation by LPS had no significant effect.In addition,except for poly(I:C),the other treatments decreased the expression of IL-10 protein to different degrees,but had no significant effects on the expression of NF-κB and MyD88.Meanwhile,all treatments we used had effect on the expression of STAT1.In conclusion,IL-10 was expressed in HepG2.2.15 cells and STAT1 pathway might be involved in the regulation of IL-10 expression in HepG2.2.15 cells,but it was not the sole pathway,the exact mechanism warrants further study.

10.
Article in English | WPRIM | ID: wpr-341438

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the prevalence and risk factors of peripheral arterial disease (PAD) in male Chinese octogenarians and nonagenarians with hypertension.</p><p><b>METHODS</b>Ankle-brachial index (ABI) was measured in the noninvasive vascular laboratory for hypertensive male octogenarians and nonagenarians enrolled from outpatient and inpatient departments. The baseline conditions were investigated using standard questionnaire and by routine physical examinations. PAD was diagnosed when an ABI≤0.9 in either lower extremity.</p><p><b>RESULTS</b>Totally 290 male Chinese octogenarians and nonagenarians [age: (84.61±4.20) years] with hypertension who were receiving antihypertensive therapy were enrolled in this study, among whom 9 men with missing data except age and ABI measurements. The ABI was 0.948±0.258, with the range of highest frequency of 0.91-1.30, and 106 patients were diagnosed as PAD, 182 as non-PAD, and 2 had ABI>1.3. ABI in hypertensive men with PAD were significantly lower than in those without PAD (P<0.05). On the contrary, age, blood urea nitrogen, white blood cell counts, platelets and aspartic transaminase were significantly higher in PAD patients than in non-PAD patients (all P<0.05). The prevalence of PAD in this study population were 36.5%; more specifically, it significantly differed between different subgroups when stratified by age (28.6% vs. 46.3%, below and above 85 years), with and without hypertension (27.5% vs. 40.1%), stroke (44.7% vs. 27.5%), dyslipidemia (41.4% vs. 33.3%), coronary artery disease (44.1% vs. 13.9%), and diabetes mellitus (53.7% vs. 21.8%) (all P<0.05). The prevalences of PAD in hypertensive patients treated with diuretics, calcium antagonists, beta-blocker, or angiotensin receptor antagonist were 41.4%, 36.1%, 22.4%, and 26.8%, respectively. No association was observed between the prevalence of PAD and smoking/alcohol drinking in these subjects. Multivariate analysis showed that age (OR 1.12, 95%CI 1.014-1.238), blood urea nitrogen (OR 1.15, 95%CI 1.025-1.301), aspartic transaminase (OR 1.05, 95%CI 1.005-1.089), diabetes mellitus (OR 4.02, 95%CI 1.797-9.009), coronary artery disease (OR 6.34, 95%CI 1.734-23.214) were strong risk factors of PAD.</p><p><b>CONCLUSION</b>PAD is highly prevalent among aged Chinese hypertensive men, in which age, blood urea nitrogen, aspartic transaminase, diabetes mellitus, coronary artery disease may be involved in the development of this condition.</p>


Subject(s)
Aged, 80 and over , Asian Continental Ancestry Group , Humans , Hypertension , Male , Peripheral Arterial Disease , Epidemiology , Prevalence , Risk Factors
11.
Genet. mol. biol ; 30(2): 370-374, Mar. 2007. tab
Article in English | LILACS-Express | LILACS | ID: lil-452813

ABSTRACT

The MYF5 gene is first inducibly expressed in muscle cell during embryonic muscle development and plays an important role in regulating the differentiation of skeletal muscle precursors. In this study we used PCR-RFLP to investigate two pig (Sus scrofa) populations (n = 302) for two MYF5 gene polymorphisms, a previously unreported novel Met-Leu shift single nucleotide polymorphism (SNP) MYF5/Hsp92II located on exon 1 and the previously identified intron 1 MYF5/HinfI SNP. Haplotype and association analysis showed that haplotypes of the two SNPs were significantly associated with drip loss rate (DLR, p < 0.05), water holding capacity (WHC, p < 0.05), biceps femoris meat color value (MCV2, p < 0.05), biceps femoris marbling score (MM2, p < 0.01), longissimus dorsi intramuscular fat percentage (IMF, p < 0.01) and longissimus dorsi Water moisture content (WM, p < 0.01) in the population 2. However, further studies are needed to confirm these preliminary results.

12.
Chinese Journal of Pathology ; (12): 327-331, 2005.
Article in Chinese | WPRIM | ID: wpr-265111

ABSTRACT

<p><b>OBJECTIVE</b>To investigate bcl-6 protein expression and gene rearrangement patterns in diffuse large B-cell lymphoma (DLBCL) and their clinicopathologic significance.</p><p><b>METHODS</b>Immunohistochemical studies for bcl-6 and CD10 proteins were performed on 51 cases of DLBCL paraffin-embedded tissues (including 22 nodal samples and 29 extranodal samples) and 10 cases of reactive lymphoid hyperplasia (RLH) paraffin-embedded tissues. Interphase fluorescence in-situ hybridization (FISH) with dual color breakapart probe was also used to identify rearrangement of bcl-6 gene in 32 cases of nodal DLBCL tissues (including 22 paraffin-embedded samples and 10 fresh samples) and 5 cases of RLH paraffin-embedded tissues.</p><p><b>RESULTS</b>(1) The rates of bcl-6 protein expression in nodal DLBCL, extranodal DLBCL and RLH were 72.7% (16/22), 75.9% (22/29) and 100.0% (10/10) respectively. The rates of CD10 expression were 40.9% (9/22), 41.4% (12/29) and 100.0% (10/10) respectively. All lymphoma samples which expressed CD10 also showed co-expression of bcl-6 protein. (2) The co-expression of bcl-6 and CD10 was observed in 40.9% (9/22) nodal DLBCL and 41.4% (12/29) extranodal DLBCL. Low clinical stage (stage I and II) was more frequently observed in cases with co-expression of bcl-6 and CD10 (P < 0.05). (3) The rates of bcl-6 gene rearrangement in nodal DLBCL was 28.1% (9/32), with 27.3% (6/22) in paraffin-embedded tissues and 30.0% (3/10) in fresh tissues. There was no statistically significant difference found between the two groups (P > 0.05). Bcl-6 gene rearrangement was not found in all the 5 cases of RLH, and there was a significant difference between RLH and DLBCL (P < 0.05).</p><p><b>CONCLUSIONS</b>The rate of bcl-6 protein expression is high in DLBCL cases, and the detection of bcl-6 and CD10 protein co-expression may help in the diagnosis and differential diagnosis of DLBCL. Those DLBCL cases with co-expression of bcl-6 and CD10 may also have a better prognostic implication. On the other hand, bcl-6 gene rearrangement can be identified by interphase FISH with dual color breakapart probe in both paraffin-embedded and fresh lymphoma tissues.</p>


Subject(s)
Diagnosis, Differential , Female , Gene Rearrangement , Humans , In Situ Hybridization, Fluorescence , Lymphoma, B-Cell , Genetics , Metabolism , Pathology , Lymphoma, Large B-Cell, Diffuse , Genetics , Metabolism , Pathology , Male , Middle Aged , Neoplasm Staging , Neprilysin , Metabolism , Proto-Oncogene Proteins c-bcl-6 , Genetics , Metabolism , Pseudolymphoma , Genetics
13.
Chinese Journal of Pathology ; (12): 238-241, 2004.
Article in Chinese | WPRIM | ID: wpr-283539

ABSTRACT

<p><b>OBJECTIVE</b>To investigate BCL-6 gene mutations in B-cell non-Hodgkin lymphomas (B-NHL) and their implications in lymphoma pathogenesis.</p><p><b>METHODS</b>Polymerase chain reaction (PCR) and direct DNA sequencing methods were used to identify mutations in the 5'-noncoding region of BCL-6 gene in 135 cases of B-NHL, 5 cases of T-NHL, 5 cases of nodular lymphocyte predominance Hodgkin's lymphoma (NLPHL) and 10 cases of reactive hyperplasia of lymph node.</p><p><b>RESULTS</b>Mutations were identified in 6 cases of nodal DLBCL (27.3%), 4 cases of FL (22.2%), 4 cases of MALT lymphoma (22.2%), 4 cases of extranodal DLBCL (20.7%) and 2 cases of LRH (20%). No mutations were detected in T-NHL and NLPHL (P < 0.05). There were no significant differences in incidences of BCL-6 gene mutations between nodal and extranodal DLBCL (P > 0.05). All mutations were base substitutions and the frequency of single-base change was 0.14 x 10(-2)/bp approximately 0.68 x 10(-2)/bp.</p><p><b>CONCLUSIONS</b>Mutations of the 5'non-coding region of BCL-6 gene may be involved in the pathogenesis and progression of B-NHL. Molecular demonstration of such mutations may provide a marker of lymphomas derived from the germinal center-related B cells.</p>


Subject(s)
5' Untranslated Regions , Genetics , Adolescent , Adult , Aged , Aged, 80 and over , Base Sequence , Child , DNA-Binding Proteins , Genetics , Female , Humans , Lymphoma, B-Cell , Genetics , Pathology , Lymphoma, Non-Hodgkin , Genetics , Pathology , Male , Middle Aged , Molecular Sequence Data , Point Mutation , Proto-Oncogene Proteins , Genetics , Proto-Oncogene Proteins c-bcl-6 , Transcription Factors , Genetics
14.
Chinese Journal of Oncology ; (12): 420-424, 2003.
Article in Chinese | WPRIM | ID: wpr-347412

ABSTRACT

<p><b>OBJECTIVE</b>To study the protein expression pattern of DNA mismatch repair genes hMSH(2), hMLH(1) and the microsatellite instability (MSI) status in the tumor tissue from hereditary nonpolyposis colorectal cancer in the Chinese.</p><p><b>METHODS</b>Fifty-eight families fulfilling different clinical criteria including Amsterdam Criteria (AC) (22/24 families, 38 tumors), Japanese Criteria (JC) (12/15 families, 16 tumors) and Bethesda Guidelines (BG) (12/19 patients, 13 tumors) were studied. Monoclonal antibodies against hMSH(2), hMLH(1) proteins and a panel of microsatellite markers (5 loci) including BAT26, BAT25, D2S123, D5S346 and D17S250 were used for study.</p><p><b>RESULTS</b>MSI-H was identified in all 22 (100%) AC tumors, with 81.8% (18/22) showing altered hMSH(2) or hMLH(1) expression; in 14/15 (93.8%) JC cancer, 1/1 (100%) JC adenoma, with 45.5% (5/11) showing altered hMSH(2) or hMLH(1) expression; and in 7/13 (53.8%) BG tumors, with 4/7 showing loss of hMSH(2) or hMLH(1) gene expression.</p><p><b>CONCLUSION</b>The frequency of MSI-H and loss of mismatch repair protein are different in the families fulfilling different clinical criteria. Amsterdam Criteria and Japanese Criteria are the two most useful criterion systems for identifying mismatched repair defective tumors. However, Bethesda Guidelines should also be used for detecting more such tumors. The combination of immunohistochemical methods and microsatellite instability analysis is an effective strategy to detect the mismatch repair defective tumors. A close correlation does exist between hMSH(2), hMLH(1) protein expression pattern and MSI status.</p>


Subject(s)
Adaptor Proteins, Signal Transducing , Base Pair Mismatch , Carrier Proteins , Colorectal Neoplasms, Hereditary Nonpolyposis , Genetics , DNA Repair , DNA-Binding Proteins , Humans , Immunohistochemistry , Microsatellite Repeats , MutL Protein Homolog 1 , MutS Homolog 2 Protein , Neoplasm Proteins , Genetics , Nuclear Proteins , Proto-Oncogene Proteins , Genetics
15.
Chinese Journal of Pathology ; (12): 323-328, 2003.
Article in Chinese | WPRIM | ID: wpr-242181

ABSTRACT

<p><b>OBJECTIVES</b>To determine the germ-line mutations of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer (HNPCC) families' probands or in patients fulfilling different clinical criteria or guidelines; to clarify the nature and distribution of the mutations; to evaluate the sensitivity of different clinical criteria in mutation prediction.</p><p><b>METHODS</b>The entire coding regions (35 exons including exon-intron boundaries) of hMSH2 and hMLH1 genes were directly sequenced in 24 Amsterdam criteria (AC) probands, 15 Japanese criteria (JC) probands (except AC kindreds) and 19 Bethesda guidelines (BG) patients (except two former groups). All available affected and unaffected members from families of those with mutations were screened for mutation.</p><p><b>RESULTS</b>In 16 unrelated families selected by the different clinical criteria, 17 germ-line mutations were found with 11 (64.7%) of hMLH1 and 6 (35.3%) of hMSH2. Two mutations were identified in one of the families. Among the 17 germ-line mutations, 12 had not been reported previously. A diversified mutation spectrum was found, but 6 hMLH1 mutations were found to be concentrated in the region encompassing exon 14, 15 and 16. There was a wide spectrum of mutation type including frame shift, nonsense, splice site mutation, in frame insertion or deletion and missense mutations. The mutation detection rate of hMSH2 and hMLH1 in the AC group was significantly higher than that in the JC group (12/24 vs. 3/15). On the other hand, a low mutation rate (1/19) was detected in 19 BG patients. The mutation cosegregated with disease. Besides, three different genotypes in tumors from probands of mutation-positive families were found.</p><p><b>CONCLUSIONS</b>hMSH2 and hMLH1 mutations in Chinese HNPCC families show a wide spectrum. It seems that hMLH1 gene is involved more frequently than hMSH2 gene in Chinese HNPCC families. Different clinical criteria predict mutations with different sensitivities. The Amsterdam Criteria are most sensitive, while Japanese Criteria are highly practical and the Bethesda Guidelines are also practical to some extent. Gene mutations cosegregate with the disease phenotype. Carriers with no symptom in HNPCC families are most vulnerable groups, follow-ups are required for this group to get early diagnosis and to prevent the development of CRCs.</p>


Subject(s)
Adaptor Proteins, Signal Transducing , Carrier Proteins , Colorectal Neoplasms, Hereditary Nonpolyposis , Genetics , DNA-Binding Proteins , Germ-Line Mutation , Humans , Microsatellite Repeats , MutL Protein Homolog 1 , MutS Homolog 2 Protein , Neoplasm Proteins , Genetics , Nuclear Proteins , Pedigree , Proto-Oncogene Proteins , Genetics
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