Genetic characteristics and survival analysis of 27 cases of juvenile myelomonocytic leukemia / 中华儿科杂志

Objective: To investigate the genetic and genomic profiling of juvenile myelomonocytic leukemia (JMML) and factors affecting its survival rate. Methods: Clinical characteristics, cytogenetics, molecular biology results and survival status of children with 27 JMML cases admitted to the Hematology Department of Children's Hospital, Capital Institute of Pediatrics from December 2012 to December 2021 were analyzed retrospectively, and the outcomes of the children were followed up. Kaplan-Meier method was used for survival analysis. Univariate analysis was used for analyzing factors affecting the overall survival (OS) rates of patients who received hematopoietic stem cell transplantation (HSCT). Log-Rank test was used for comparison of survival curves. Results: Among 27 JMML cases, there were 11 males and 16 females. The age of disease onset was 28 (11,52) months. There are 20 cases of normal karyotype, 4 cases of monosomy 7, 1 case of trisomy 8,1 case of 11q23 rearrangement and 1 case of complex karyotype. A total of 39 somatic mutations were detected.Those involved in RAS signal pathway were the highest (64%(25/39)), among which PTPN11 mutation was the most frequent (44% (11/25)). A total of 17 cases (63%) received HSCT, 8 cases (30%) did not receive HSCT, and 2 cases (7%) lost follow-up. For children receiving transplantation, the follow-up time after transplantation was 47 (11,57) months. The 1-year OS rate of high-risk transplantation group (17 cases) and high-risk non transplantation group (6 cases) was (88±8)% and (50±20)% respectively, with a statistically significant difference (χ2=5.01, P=0.025). The 5-year OS rate of the high-risk transplantation group was (75±11)%. The survival time of those who relapsed or progressed to acute myeloid leukemia after transplantation was significantly shorter than that of those who did not relapse (χ2=6.80, P=0.009). The OS rate of patients with or without PTPN11 mutation was (81±12) % and (67±19)% respectively (χ2=0.85, P=0.356). Conclusions: The main pathogenesis involved in JMML is gene mutation related to RAS signaling pathway, and the most common driver gene of mutation is PTPN11. Allogeneic HSCT can significantly improve the survival rate of high-risk JMML patients. The recurrence or progression after transplantation was related to poor prognosis.

External Quality Analysis of Quality Indicators on Specimen Acceptability / 现代检验医学杂志

Objective To analyze the status of quality indicators(QI) on specimen acceptability and establish preliminary qual ity specification.Methods Web based External Quality Assessment system was used to collect data of laboratories partici pated in "Medical quality control indicators in clinical laboratory" from 2015 to 2017,including once in 2015 and 2017 and twice in 2016.Rate and sigma scales were used to evaluate incorrect sample type,incorrect sample container,incorrect fill level and anticoagulant sample clotted.The 25th percentile (P25) and 75th percentile (P75) of the distribution of each QI were employed to establish the high,medium and low specification.Results 5 346,7 593,5 950 and 6 874 laboratories sub mitted the survey results respectively.The P50 of biochemistry (except incorrect fill level),immunology and microbiology reach to 6σ.The P50 of clinical laboratory is 4 to 6σ except for incorrect sample container.There is no significant change of the continuous survey results.Based on results in 2017 to establish the quality specification,the P25 and P75 of the four QIs is 0 and 0.084 4 ％,0 and 0.047 6 ％,0 and 0.114 2 ％,0 and 0.078 4 ％,respectively.Conclusion According to the results of the survey,most laboratories had a faire performance in biochemistry,immunology and microbiology,and clinical laboratory needs to be strengthened.Laboratories should strengthen the laboratory information system construction to ensure the actual and reliable data collection,and make a long time monitoring to achieve a better quality.

Diagnostic value of R-banding Technique, Dual-color Fluore- scence In Situ Hybridization and Quantitative Real-time PCR in Acute Promyelocytic Leukemia / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To explore the diagnostic value of R-banding technique (RT), dual-color fluorescence in situ hybridization (D-FISH) and quantitative real-time PCR (RT-PCR) for acute promyelocytic leukemia.</p><p><b>METHODS</b>The cytogenetic characteristics and PML/RARα fusion gene in 340 patients with suspectable APL were analyzed by using 3 detection methods. MICM (morphology, immunology, cytogenetic and molecular biology) was used as diagnostic standard of APL, and the diagnostic value of RT, D-FISH and RT-PCR was evaluated by comparing the detection results of RT, D-FISH and RT-PCR as well as their combination.</p><p><b>RESULTS</b>For the diagnosis of APL, the sensitivity of RT, D-FISH and RT-PCR was 81.3% (78/96), 95.0% (91/96) and 96.9% (93/96) respectively. RT failed to detect 18 cases, the results of D-FISH showed 5 cases with false positive and 2 cases with false negative, the RT-PCR showed 4 cases with false positive, 3 cases with false negative. The sensitivity and specificity of combined detection of 3 methods were 99.97% and 100% respectively.</p><p><b>CONCLUSION</b>The 3 detection methods alone all have certain defects for diagnosis of APL, but their combined detection is helpful to improve the definitive diagnostic rate and can decrease misdiagnosis rate and missed diagnostic rate.</p>

Clinical features and risk factors of co-morbid tic disorder in children with attention deficit hyperactivity disorder / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the clinical features and risk factors of co-morbid tic disorder (TD) in children with attention deficit hyperactivity disorder (ADHD).</p><p><b>METHODS</b>A total of 312 children with ADHD were involved in this study. Subtypes of co-morbid TD, incidences of TD in different subtypes of ADHD (ADHD-I, ADHD-HI and ADHD-C) were observed. Thirteen potential factors influencing the comorbidity rate of TD in ADHD were evaluated by univariate analysis and multiple logistic regression analysis.</p><p><b>RESULTS</b>Forty-two of 312 children with ADHD suffered from co-morbid TD (13.5%). Comorbidity rate of TD in children with ADHD-C (24.1%) was significantly higher than in those with ADHD-HI (10.9%) and ADHD-I (8.8%) (P<0.05). There were 21 cases (50.0%) of transient TD, 12 cases (28.6%) of chronic TD, and 9 cases (21.4%) of Tourette syndrome. The univariate analysis revealed 6 factors associated with comorbidity: addiction to mobile phone or computer games, poor eating habits, infection, improper family education, poor relationship between parents and poor relationship with schoolmates. Multiple logistic analysis revealed two independent risk factors for comorbidity: improper family education (OR=7.000, P<0.05) and infection (OR=2.564, P<0.05).</p><p><b>CONCLUSIONS</b>The incidence of co-morbid TD in children with ADHD is influenced by many factors, and early interventions should be performed based on the main risk factors.</p>

Analysis of the pregnancy outcomes of 13 723 tubes of sperm specimens from the sperm bank / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the safety of assisted reproductive technology (ART) with donated sperm from the sperm bank and the differences in the pregnancy outcomes of different means of promoting pregnancy.</p><p><b>METHODS</b>We analyzed and compared the feedback data on promoting pregnancy with donated sperm from the sperm bank by artificial insemination by donor (AID), in vitro fertilization (IVF), and intracytoplasm sperm injection (ICSI).</p><p><b>RESULTS</b>Totally, 13 723 tubes of sperm specimens were used for ART. The number of specimens used differed in different clinical reproductive centers, some using 1 tube and others using 2 tubes per cycle. The 13 723 tubes were used for a total of 7 743 cycles. Among the 7 123 cycles of AID, there were 1 415 clinical pregnancies (19.87%), 1 221 normal births (86.29%), 169 abortions (11.94%), 6 cases of birth defects (0.43%), 19 ectopic pregnancies (1.34%), and 0 sexually transmitted infection. Among the 571 cycles of IVF, there were 367 clinical pregnancies (64.27%), 330 normal births (89.92%), 35 abortions (9.54%), 0 birth defect, 2 ectopic pregnancies (0.54%), and 0 sexually transmitted infection. Among the 49 cycles of ICSI, there were 28 clinical pregnancies (57.14%), 25 normal births (89.29%), 3 abortions (10.71%), 0 birth defect, 0 ectopic pregnancy, and 0 sexually transmitted infection. There were statistically significant differences in the rate of clinical pregnancy among AID, IVF and ICSI (P < 0.05), but not between IVF and ICSI (P > 0.05), nor were there any significant differences in the rates of abortion, birth defects and ectopic pregnancy among AID, IVF and ICSI (P > 0.05).</p><p><b>CONCLUSION</b>None of the recipients of the donated sperm from the sperm bank was infected with sexually transmitted diseases. AID, IVF and ICSI showed no significant differences from natural conception in the rates of abortion, birth defects and ectopic pregnancy. ART with donated sperm from the sperm bank is safe. IVF and ICSI are associated with a higher rate of pregnancy than AID, though the latter costs less than the former two.</p>

Effect of methylation inhibitor on EphB4 gene expression, proliferation and apoptosis in CEM cells / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the regulation of methylation inhibitor 5-aza-2'-deoxycytidine on transcription of EphB4 gene and effects on the proliferation and apoptosis of human acute lymphocyte leukemia cell line CEM.</p><p><b>METHODS</b>Bisulfite sequencing PCR was used to detect CpG island methylation density in EphB4 promoter. The expression of EphB4 mRNA and protein was determined by Q-PCR and Western blot. MTS assay and flow cytometry were used to detect the apoptosis of CEM cells after treatment with different concentrations of 5-aza-2'-deoxycytidine (1.0, 2.5 and 5 μmol/L).</p><p><b>RESULTS</b>Methylation of EphB4 gene promoter was detected in CEM cells (31.4%). The methylation level of EphB4 gene was down-regulated after treatment with various concentrations of 5-aza-2'-deoxycytidine. The EphB4 mRNA and protein expression in CEM cells increased after 5-aza-2'-deoxycytidine treatment. 5-Aza-2'-deoxycytidine significantly inhibited the cell growth in dose and time dependent manners. Early apoptosis rates of CEM cells increased from 4.1% to 24.8% 96 hrs after 5-aza-2'-deoxycytidine treatment. CEM cells in G1 phase decreased from 62.4% to 46.8%, cells in G2 phase increased from 2.1% to 16.2%, and CEM cells were arrested in G2 phase after treatment with 5 μmol/L 5-aza-2'-deoxycytidine for 96 hrs.</p><p><b>CONCLUSIONS</b>5-Aza-2'-deoxycytidine, an inhibitor of specific methylation transferase, can induce expression of the silent EphB4 gene in CEM cells, inhibit the proliferation of leukemia cells and induce cell apoptosis.</p>

Genetic polymorphism of GST gene in children with infectious mononucleosis and acute lymphocytic leukemia / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the relationship between glutathione S-transferase genes GSTT1 and GSTM1 polymorphisms and the susceptibility to infectious mononucleosis (IM) and acute lymphocytic leukemia (ALL) in children.</p><p><b>METHODS</b>The case-control study involved 106 children with IM, 41 children with ALL and a control group of 100 children with non-hematologic and nontumorous diseases. The genetic polymorphisms of GSTT1 and GSTM1 were detected with multiplex polymerase chain reaction (PCR). Distribution of the genotypes in the children was analyzed.</p><p><b>RESULTS</b>The frequency of GSTT1 null genotype in children with IM was significantly higher than in the control group (P<0.05). The risk of IM in children carrying GSTT1 null genotype was 2.186 times higher than in those carrying GSTT1 non-null genotype. The children carrying both GSTT1 and GSTM1 null genotype had a higher risk of suffering from IM compared to those carrying only one of the null genotypes (OR=4.937). The frequency of GSTM1 null genotype in children with ALL was significantly higher than in the control group (P<0.05). The risk of ALL in children carrying GSTM1 null genotype was 2.242 times higher than in those in carrying GSTT1 non-null genotype. Children carrying both GSTT1 and GSTM1 null genotype had a higher risk of suffering from ALL compared with those carrying only one of the null genotypes (OR=8.552).</p><p><b>CONCLUSIONS</b>Children carrying GSTT1 or GSTM1 null genotype have a high risk of suffering from IM or ALL. Still more increased susceptibility to IM or ALL may occur in children who carry both GSTT1 and GSTM1 null genotype. GSTT1 and GSTM1 might play a potential role in the pathogenesis of both IM and ALL.</p>

Serum proteomic marker of hepatic echinococcosis screened by surface enhanced laser desorption/ionization time of flight mass spectrometry / 中国地方病学杂志

Objective To screen serum proteomic marker of hepatic echinococcosis, establish a diagnotic model of serum protein fingerprint patterns, and evaluate its clinical application for hepatic echinococcosis. Methods Serum samples from 68 patients with hepatic echinococcosis matched with 73 controls composed of 33 patients with liver diseases other than hepatic echinococcosis and 40 healthy people were collected. All subjects were divided into training group (37) and testing group (67). Serum protein profiling of patients with hepatic echinococcosis and controls were detected using surface enhanced laser desorption/ionization time of flight mass spectrometry(SELDI-TOF-MS) and weak cation exchange protein chip(WCX2). Peak intensities were compared, in the training group, between 37 patients with hepatic echinococcosis and 37 controls, 5 patients with HCE and 5 patients with HAE, and 8 patients with hepatic echinococcosis before and after operation, respectively. ZJU-Protein Chip Data Analyze System(ZJU-PDAS) was used for data analysis and the model of serum protein fingerprint patterns was build by support vector machine (SVM). The sensitivity and specificity of the model for diagnosis of hepatic echinococcosis were verified by blind method on samples of testing group. Results There were nine different protein peak spectra between hepatic echinococcosis group and control group, of which eight protein peak spectra decreased in patient group, their relative molecular mass were 1044, 1047, 1073, 1075, 1338, 6453, 6649, 8714 m/z, respectively, while one protein peak spectrum(5651 m/z) increased(P < 0.05). The sensitivity,specificity, positive predictive and negative predictive value of the model validated by blind method were 77.4% (24/31), 66.7% (24/36), respectively. There were two different protein peak spectra between HCE group and HAE group, Their relative molecule mass were 8716 and 2751 m/z, respectively (P < 0.05). Six different proteins were detected from pre-operation group and post-operation group. Their relative molecular mass were 1297, 1505, 1525, 1534, 5921, 5941 m/z, respectively(P < 0.05). Conclusions It is a successful way to screen serum proteomic marker in patients with hepatic echinococcosis by SELDI-TOF-MS and Bio-informatics, and the marker has a potential clinical value in diagnosis and judging prognosis of hepatic echinococcosis.

Suppression of survivin gene in leukemia cells by small interfering RNA / 中华儿科杂志

<p><b>OBJECTIVE</b>To evaluate the impact of specific siRNA on survivin gene in transfected leukemia cells.</p><p><b>METHOD</b>The small interfering RNA (siRNA) targeted survivin mRNA was synthesized in vitro and was transfected into K562 cell by Hiperfect into human leukemia cell line K562, which has high survivin expression level. The level of survivin mRNA expression was determined by quantitative reverse transcription polymerase chain reaction (RT-PCR) with SYBR GREEN I. The apoptosis index of cytotrophoblasts were determined and analyzed by FCM (Annexin V-FITC/PI staining methods). The cell proliferation was examined by MTT at 48 h and 72 h after transfection.</p><p><b>RESULT</b>The level of mRNA expression was significantly inhibited by the siRNA 48 h and 72 h after transfection, the suppression rate of survivin mRNA separately reached 85.21%, 94.35% mensurated by quantitative RT-PCR with SYBR GREEN I, cell proliferation was inhibited significantly by 45.02% and 50.88%, respectively, the apoptotic rate detected by Annexin V-FITC assay reached 12.28%and 21.55%, respectively.</p><p><b>CONCLUSION</b>The chemosynthesized siRNA targeting survivin could significantly down-regulate survivin mRNA. Survivin siRNA was able to inhibit the proliferation of leukemia cell line K562. Survivin may become a new target for leukemia gene therapy.</p>

Comparison of therapeutic effects in severe nocturia: gradual versus immediate drug withdrawal / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate possible differences in the prognosis in children with severe nocturia who received different drug withdrawal schedules.</p><p><b>METHODS</b>Ninety-seven children with severe nocturia were randomly assigned to two groups: control (n=47) and observed (n=50). The control group accepted drug withdrawal immediately, while the observed group accepted dose tapering gradually after a 12-week treatment course. The frequency of enuresis was observed three months after complete drug withdrawal.</p><p><b>RESULTS</b>During the treatment, the frequency of enuresis in all of children from both the control and the observed groups was reduced by over 90%. Forty-six children (92%) from the observed group showed the frequency of enuresis was reduced by over 90%, but 28 children (60%) from the control group (p<0.01) three months after the complete drug withdrawal. There were no significant differences in the adverse effect and the medication compliance between the two groups.</p><p><b>CONCLUSIONS</b>The different schedules of drug withdrawal may lead to different prognosis, and the schedule of gradual drug withdrawal may be superior to the immediate one in children with nocturnal enuresis.</p>

Effect of integrin alpha2beta1 on invasion and migration of neuroblastoma cells / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the effect of integrin alpha2beta1 on invasion and migration of SK-N-SH neuroblastoma cells.</p><p><b>METHODS</b>Neuroblastoma SK-N-SH cell line was cultured in the modified eagle's medium. The effects of monoclonal antibodies to integrin alpha2 and integrin beta1 on migration and invasion were measured by inclined test and polycarbonate filters incorporated in modified Transwell chambers respectively. The migration and invasion cells were stained with Gimsa staining and counted under a 200 multiplied microscope. The blocking rate of migration and invasion of cells was calculated.</p><p><b>RESULTS</b>The number of migrated SK-N-SH cells in the anti-alpha2 and anti-beta1 treatment groups (50.9+/-10.5 and 54.3+/-9.0 respectively) was significantly less than that in the control group without monoclonal antibody treatment (98.1+/-7.4) (P<0.01), with a blocking rate of cell migration of 48.1% and 44.5% respectively. The invasion to matrigel of SK-N-SH cells exposed monoclonal antibodies to integrin alpha2 and integrin beta1 was significantly blocked compared with the control SK-N-SH cells, with the number of invasion cells in the anti-alpha2 and anti-beta1 treatment groups of 25.3 +/- 4.4 and 18.8 +/- 3.9 respectively vs 41.5 +/- 4.8 in the control group (P<0.01). The blocking rate of cell invasion in the anti-alpha2 and anti-beta1 treatment groups was 39.0% and 54.7% respectively.</p><p><b>CONCLUSIONS</b>Integrin alpha2beta1 may promote migration and invasion of neuroblastoma cells.</p>

Detection of human cyclin C gene expression in childhood acute lymphocytic leukemia using real-time fluorescence quantitative PCR / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To explore the relationship between human cyclin C (CCNC) gene and childhood acute lymphocytic leukemia (ALL).</p><p><b>METHODS</b>The total RNA isolated from myeloid tissues of normal children and of children with newly diagnosed ALL and from ALL cell line 6T-CEM was reversely transcribed into cDNA. Real-time fluorescence quantitative PCR method was used to detect CCNC gene expression.</p><p><b>RESULTS</b>CCNC was expressed in myeloid tissues of normal children and of children with newly diagnosed ALL as well as 6T-CEM. The relative expression level of CCNC gene in children with newly diagnosed ALL was significantly lower than in normal controls (2.35 +/- 0.83 vs 13.5 +/- 0.30; P <0.05).</p><p><b>CONCLUSIONS</b>CCNC gene shows lower expression in children with newly diagnosed ALL, suggesting that it may be a tumor suppressing gene in childhood ALL.</p>

Clinical data of childhood leukemia in Hunan Province between 2002 and 2005 / 中国当代儿科杂志

<p><b>OBJECTIVE</b>This study analyzed the clinical data of newly diagnosed childhood leukemia from various hospitals in the cities or counties of Hunan Province between 2002 and 2005 in order to provide references for further epidemiologic survey of childhood leukemia.</p><p><b>METHODS</b>The clinical data of children with newly diagnosed leukemia from hospitals of various cities or counties of Hunan Province between 2002 and 2005 were collected and reviewed.</p><p><b>RESULTS</b>There were 803 children with leukemia during 2002-2005. Acute lymphoid leukemia was most commonly seen (597/803, 74.35%), followed by acute non-lymphoid leukemia (192/803, 23.91%) and chronic myelocytic leukemia (14/803, 1.74%). There were no significant differences in the clinical type and the prevalence of leukemia between males and females. The prevalence of newly diagnosed childhood leukemia in the urban area was noticeably higher than that in the rural area (2.02/10(5) vs 1.50/10(5), P < 0.05). 41.79% of children with newly diagnosed leukemia from the urban area received treatments but only 22.80% of patients from the rural area received treatments (P < 0.05).</p><p><b>CONCLUSIONS</b>This study of patients-based hospitals showed some features of the morbidity of childhood leukemia in Hunan Province. It provides references for further epidemiologic investigation of this disease in Hunan Province.</p>

Reference values of blood lymphocyte immunophenotype in the normal healthy adults of Ugyur and Han nationalities in Xinjiang / 中国实验血液学杂志

This study was aimed to establish the reference values of blood lymphocyte immunophenotype in healthy adult between Ugyur and Han nationalities in Xinjiang and to compare the difference between these two nationalities in respect to nationality and gender, anticoagulated peripheral blood samples of 75 Ugyur people and 104 Han people were stained with monoclonal antibodies; the lymphocytes were analyzed by flow cytometry for the expression of lymphocyte-population bearing surface markers, the data were analyzed by SPSS 11.0. The results showed that the reference ranges of blood lymphocyte subsets in Uygur and Han adults were as follows: total T cells amounted to 67.85 +/- 8.97% and 69.98 +/- 10.14% respectively; helper T cell to 36.86 +/- 5.74% and 40.07 +/- 6.10% respectively; inhibitor T cell to 26.67 +/- 6.15% and 27.16 +/- 6.29% respectively; CD4/CD8 ratio to 1.46 +/- 0.47 and 1.56 +/- 0.47 respectively; NK cell to 16.91 +/- 9.89% and 12.81 +/- 7.34% respectively; B cell to 10.09 +/- 3.33% and 11.78 +/- 3.81% respectively; CD3(+)/HLA-DR(+) to 10.05 +/- 2.95% and 11.27 +/- 4.98% respectively; CD25(+) cell to 1.76 +/- 5.26% and 4.10 +/- 4.30% respectively. The differences of those two nationalities were mainly in total T cells, NK cell, B cell and CD25(+) cell. Furthermore there were also some differences between male and female. There might exist differences in helper T cells, CD4/CD8 ratio between Ugyur male and female, while this difference in Han lied in inhibitor cell and NK cell. Compared to those of two nationalities, the helper T cell percentage and CD4/CD8 ratio of Uygur male were lower than those in Han male. And in female, Uygur people had higher percent of NK cell (P < 0.01), but lower CD25(+) cell than those in Han's (P < 0.01). In conclusion, the nationalities and gender could influence the reference value of lymphocyte immunophenotype, the reference values of blood lymphocyte immunophenotype in the normal healthy adults of Ugyur and Han nationalities in Xinjiang were defined, and the differences between these two nationalities in respect to nationality and gender were elucidated.

Allelic loss of 6q16.3 microsatellite DNA in childhood acute lymphoblastic leukemia and bioinformatics analysis / 中华血液学杂志

<p><b>OBJECTIVE</b>To locate the cluster region of loss of heterozygosity (LOH) in children with acute lymphoblastic leukemia (ALL), and explore the new tumor suppressor gene.</p><p><b>METHODS</b>Allelic loss was analyzed by PCR with 15 microsatellite markers mapping on 6q16.3. The LOH was analyzed by bioinformatics. The relationship between LOH and clinical factors was further analyzed.</p><p><b>RESULTS</b>The frequency of LOH at least at one loci on 6q16.3 was 32.7%. The LOH in relapsed patients was higher than those in not relapsed. The higher frequency of LOH was observed in two regions of D6S1709-D6S1028 and D6S2160-D6S1580 at 6q16.3. GRIK2 may be a candidate of tumor suppressor gene. There are 12 ESTs may carry out new anti-oncogene. Patients with 6q LOH had higher WBC counts (P < 0.01), blast cells percentage (P < 0.01), relapse rate (P < 0.05) and chromosomal aberration (P < 0.05).</p><p><b>CONCLUSION</b>D6S1709-D6S1028 and D6S2160-D6S1580 are two regions of minimus deletion on 6q16.3 in which tumor suppressor gene may exist. The LOH on 6q16.3 may be a prognostic index of children with ALL.</p>

Association of the T(-344)C polymorphism of aldosterone synthase gene CYP11B2 with essential hypertension in Xinjiang Kazakh isolated group / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association of the T(-344)C polymorphism of aldosterone synthase gene CYP11B2 with essential hypertension in Xinjiang Kazakh isolated population.</p><p><b>METHODS</b>The study covered 186 hypertensives and 168 normotensive controls in Xinjiang Kazakh population. The segment of CYP11B2 was amplified from DNA by polymerase chain reaction(PCR). The PCR products were digested by restriction endonuclease.</p><p><b>RESULTS</b>The frequencies of C and T in hypertensive group (0.45 and 0.55) were not significantly different from those in the control group (0.43 and 0.57; chi-square test=0.380, P=0.537). The frequencies of CYP11B2 genotypes of CC, CT and TT were 0.20, 0.50 and 0.30 in hypertensives respectively, and 0.12, 0.61 and 0.27 in controls respectively. There was no significant difference in genotypes between hypertensive group and normotensive group (chi-square test=4.838, P=0.089). But the frequencies of CC genotype were higher in the female hypertensives than in the normotensive controls (chi-square test=6.104, P<0.05).</p><p><b>CONCLUSION</b>The results suggested that the T(-344)C polymorphism of CYP11B2 gene may be associated with hypertension in female Kazakh population of Xinjiang Barlikun area.</p>