Prevalence of hypertension and its influencing factors in Shigatse area of Tibet / 中华疾病控制杂志

Objective To investigate the prevalence of hypertension among residents over 18 years of age in Shigatse, Tibet, and to explore the correlation between different influencing factors and the incidence of hypertension. Methods A questionnaire survey and field blood pressure measurements were used to collect the information of age, education, occupation, smoking, drinking, body mass index (BMI) and salt intake were collected from 391 residents in Shigatse area. Logistic regression analysis of SPSS was used for statistical analysis. Results 391 questionnaires showed that the prevalence of hypertension was 38.36%, of which 39.91% was male and 36.52% was female. The results of multivariate Logistic regression analysis showed that the factors associated with hypertension in Shigatse residents included age, BMI, smoking and drinking, in which age and BMI, smoking were positively correlated with hypertension. Alcohol consumption was negatively correlated with hypertension. Conclusion In Shigatse area, age, BMI and smoking were the risk factors of hypertension, while drinking alcohol was protective factor of hypertension.

Transmission disequilibrium test for 15 short tandem repeat loci in Kashin-Beck disease and their interaction with low selenium / 南方医科大学学报

<p><b>OBJECTIVE</b>To identify the genetic susceptibility to Kashin-Beck disease (KBD) and explore the interaction between low selenium (Se) and the susceptibility gene loci in KBD.</p><p><b>METHODS</b>The DNA samples collected from 23 KBD nuclear families were analyzed using PCR and GeneScan Analysis 3.7 and Genotyper3.7 software. The haplotype relative risk (HRR) and transmission disequilibrium test (TDT) were used to test the data of the genotypes. The serum selenium (Se) concentration was measured by atomic fluorescence spectrometry, and the interaction between low Se and the susceptibility loci was calculated using a binary logistic regression.</p><p><b>RESULTS</b>In the 23 nuclear families, the alleles of D2S151 (248 bp), D2S305 (320 bp), and D11S4094 (194 bp) showed significant correlation to KBD (P<0.05). Serum Se concentrations in the studied individuals was 0.037 µg/ml. No significant statistical interaction was observed between low Se exposure and the susceptibility loci (P>0.05).</p><p><b>CONCLUSION</b>The polymorphisms in the STR loci D2S305, D2S151, and D11S4094 or the polymorphism loci near them might been related to KBD susceptibility. Low Se exposure shows no significant interaction with the susceptibility loci.</p>

Polymorphism of fifteen short tandem repeat loci in Tibetan of Changdu area / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the genetic polymorphism of 15 autosomal short tandem repeat (STR) loci, i.e. D5S818, FGA, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX and D18S51, in Tibetan population of Changdu area, and to analyze the genetic relationship between this population and other Asian populations.</p><p><b>METHODS</b>The 15 loci were amplified simultaneously using a multiplex PCR typing system. Amplified STR fragments were analyzed with an ABI PRISM 3100 Avant DNA Analyzer. Arlequin software version 3.1 was used to obtain allele frequencies and polymorphism parameters.</p><p><b>RESULTS</b>There were 135 STR alleles in the 15 STRs of Changdu Tibetan, with allele frequencies ranging from 0.0065 to 0.5455. The average heterozygosity was 0.7340, the discrimination power was higher than 0.8 except for TPOX and TH01. The accumulative discrimination power was more than 0.9999998, and the accumulative non-parental exclusion probability was 0.99999997.</p><p><b>CONCLUSION</b>The 15 STR loci of Changdu Tibetan possess characteristics of high genetic diversity. They can be employed in minority genetics investigation, and individual and paternity test in forensic medicine.</p>

Genetic polymorphism of 15 short tandem repeats loci of Tibetan nationality and its affinity with other nationalities in Tibet / 中南大学学报(医学版)

OBJECTIVE@#To determine the genetic diversity of short tandem repeats (STRs) loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, upsilonWA, TPOX, D18S51, D5S818, and FGA), and to evaluate the genetic structure of Tibetan nationality and its affinity with other Tibetans (Changdu Tibetan, Luoba ethnic group, Deng population) and other Asian populations.@*METHODS@#Fifteen STRs loci were amplified simultaneously using a multiplex PCR typing system. Amplified STR fragments were analyzed with an ABI PRISM 3100 Avant DNA Analyzer. Arlequin software version 3.1 was used to obtain allele frequencies and polymorphism parameters. The genetic distance (D(A)), coefficient of gene differentiation (Gst) values, and heterozygosity (Ht) were estimated using DISPAN. A phylogenetic tree from the allele frequency data at 8 STRs loci and 15 STRs loci obtained from the literature reported previously by using the D(A) and Neighbor-Joining (N-J) method was constructed using MEGA Version 4.0. Multidimensional scaling (MDS) analysis was performed using the SPSS 14.0 software package.@*RESULTS@#We got 132 alleles in the population studied, with the frequency of 0.0050-0.5990. Ht, the power of discrimination (DP) and the polymorphism information content (PIC) were consistent with the forensic application. Cluster analysis and phylogenic trees revealed that Tibetan nationality had estrangement genetic affinity with other Chinese nationalities and Asian population.@*CONCLUSION@#The genetic information demonstrates that the 15 chosen gene makers are highly informative loci and are suitable for population genetic research and forensic application.

Genetic polymorphism analysis of 8 short tandem repeat loci on the X chromosome in Luoba population of China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the alleles and genotype frequency of 8 short tandem repeat (STR) loci (DXS6804, DXS8378, DXS7132, DXS7133, DXS6789, DXS101, HPRTB and DXS7423) on the X chromosome in Luoba ethnic group of China.</p><p><b>METHODS</b>The eight X chromosome STR (X-STR) loci were analyzed by polymerase chain reaction (PCR) followed by polyacylamide gel electrophoresis and silver stain.</p><p><b>RESULTS</b>Among 96 unrelated Luoba individuals, the numbers of alleles in the 8 X-STR loci (DXS7133, DXS6789, DXS6804, DXS8378, DXS101, DXS7424, DXS7132 and HPRTB) were 5, 8, 7, 5, 8, 8, 8 and 5, respectively. The genotype frequencies in females were in accordance with Hardy-Weinberg equilibrium.</p><p><b>CONCLUSION</b>The eight X-STR loci are appropriate for individual identification, paternity testing involving a female child and studies on related diseases.</p>

Genetic polymorphisms of 14 Y-chromosomal short tandem repeat loci and haplotypes in Tibetan / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To reveal the allelic frequencies and haplotype frequencies of fourteen Y-chromosome short tandem repeat (STR) loci in a Tibetan population.</p><p><b>METHODS</b>The Y-chromosomal STR loci were analyzed from 126 healthy unrelated autochthonous male individuals of Chinese Tibetan using a multiplex PCR system. Allele and haplotype frequencies for these loci were determined by the AmpFISTR Y filer PCR Amplification kit.</p><p><b>RESULTS</b>One hundred and twenty-one alleles were detected from the 14 STR loci. The allele diversity values (DP) for each locus ranged from 0.4104 (DYS391) to 0.9489 (DYS385a, b), the DP value of these loci were higher than 0.5 except for that of DYS391. A total of 105 haplotypes were identified in the Y-STR loci, among which 103 were unique, while two occurred more than once. The overall haplotype diversity for the Y-STR loci was 0.9998, and the discrimination capacity was 0.9898.</p><p><b>CONCLUSION</b>The 14 STR loci above belong to loci of high discriminating ability, the haplotypes are highly polymorphic.</p>

Serum hyaluronic acid, tumor necrosis factor -alpha, vascular endothelial growth factor, NO, and Se levels in adult patients with Kashin-Beck disease / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the association of serum levels of hyaluronic acid (HA), tumor necrosis factor-alpha (TNF-alpha), vascular endothelial growth factor (VEGF), NO, and Se with the clinical manifestations in adult patients with Kashin-Beck disease (KBD).</p><p><b>METHODS</b>Total 216 adults were selected for KBD screening from the KBD-prevalent areas in Yongshou county and the non-KBD areas of Chang'an county, Xi'an city, ShaanXi Province. According to the National Diagnostic Criteria of Kashin-Beck Disease in China, the diagnoses of KBD was established in 25 adult patients (11 men and 14 women, average age of 47.88+/-11.16 years), and 20 healthy control subjects from the KBD areas (8 men and 12 women, average age of 47.85+/-12.05 years) and 20 from the non-KBD areas (8 men and 12 women, average age of 47.45+/-11.24 years) were also selected to serve as controls. There was no significant difference in the average age and gender distribution between the 3 groups. The serum levels of HA, TNF-alpha, VEGF, NO and Se were measured by enzyme-linked immunosorbent assay, nitrate reductase method and griphite furnace atomic absorption spectrometry.</p><p><b>RESULTS</b>Serum NO level was significantly higher in KBD group (41.7+/-21.89 micromol/L) than in the health controls from KBD areas (17.1+/-13.01 micromol/L) and non-KBD areas (17.58+/-11.48 micromol/l, F=13.11, df=2, P<0.001). Serum TNF-alpha level in KBD group (32.7+/-3.55 pg/ml) was significantly higher than that in the control subjects from the non-KBD areas (30.95+/-2.22 pg/ml, F=3.672, df=2, P=0.031), but similar with the control subjects from the KBD areas (32.7+/-3.55 pg/ml). Serum TNF-alpha and NO levels were identified as the indices that differed between adult KBD patients and the controls from both KBD and non-KBD areas by differential analysis (the function of differentiation was 0.062xNO+0.173xTNF -7.218).</p><p><b>CONCLUSION</b>Serum TNF-alpha and NO levels are significantly increased in adult KBD patients and are associated with the clinical manifestations of KBD.</p>

Analysis of allele frequencies of 6 short tandem repeat loci on chromosome 12 in patients with Kashing-Beck disease / 南方医科大学学报

<p><b>OBJECTIVE</b>To analyze the allele frequencies of 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S16725 and D12S1613) on chromosome 12 among KBD patients and residents in the KBD and non-KBD areas.</p><p><b>METHODS</b>EDTA-blood samples were collected from 146 unrelated Chinese Han individuals in Shaanxi Province including 57 KBD patients, 48 control subjects living in the Kashing-Beck disease(KBD) area and 48 in the non-KBD area. The DNA samples were extracted and amplified by PCR, and the PCR products were analyzed by ABI 3100 Genetic Analyzer.</p><p><b>RESULTS</b>In KBD patients, the allele number for the 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S16725 and D12S1613) was 7, 7, 7, 10, 12 and 8, and the genotype number were 13, 12, 9, 17, 19 and 10, respectively; in the residents in KBD area, the allele number was 7, 5, 7, 9, 13 and 9, and the genotype number 12, 10, 12, 19, 16 and 8; in residents in non-KBD area, the allele number was 7, 5, 5, 12, 8 and 9, and the genotype number 17, 16, 8, 22, 14 and 8. There were significant differences in the allele frequencies in the D12S1725 loci between KBD patients and residents living in KBD area (P=0.0119) and the non-KBD area (P=0.0050), but no significant difference in other 5 loci among the 3 groups.</p><p><b>CONCLUSION</b>KBD patients have significantly different allele distribution patterns in the D12S1725 loci from the control subjects.</p>

Determination of HLA-A, B, and DRB1 gene polymorphism in Monba ethnic group of Xizang Autonomous Region, China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the HLA-A, B, DRB1 allele polymorphism in Monba ethnic population of Xizang Autonomous Region.</p><p><b>METHODS</b>HLA-A, B, DRB1, DNA types in 47 unrelated Monba ethnic healthy individuals from the Xizang Autonomous Region of China were analyzed by polymerase chain reaction-based reverse line-strip sequence specific oligonucleotide hybridization. Based on the HLA-DRB1 alleles frequencies of 11 other ethnic groups in China, a molecular phylogenetic tree was constructed by the Neighbor-Joining (NJ) method.</p><p><b>RESULTS</b>Twenty-three alleles were detected for HLA-A, 39 for HLA-B, and 33 for HLA-DRB1. HLA-A*1101, A*2402, A*02011, A*0206, HLA-B*3802, B*4001, B*4002, B*51011, HLA-DRB1*12021, DRB1*0403, DRB1*0701, DRB1*1201 were the most common alleles. The most frequent alleles were HLA-A*1101(0.2128), HLA-B*3802(0.1064), and HLA-DRB1*12021(0.0851).</p><p><b>CONCLUSION</b>The HLA loci are highly polymorphic in Monba population of Xizang Autonomous Region. Compared with other ethnic groups in China, the Monba ethnic group is close to Tibetan ethnic group.</p>

Analysis on allele frequencies of 7 short tandem repeat loci of Kashing-Beck disease patients on / 中华流行病学杂志

<p><b>OBJECTIVE</b>To analyze the allele frequencies of 7 short tandem repeat (STR) loci (D12S1718, D12S1675, D12S358, D12S367, D12S1638, D12S1646 and D12S1682) on chromosome 12 among Kashing-Beck disease (KBD) patients and the control population living in the KBD areas and non-KBD area.</p><p><b>METHODS</b>EDTA-blood specimens were collected from 102 unrelated individuals of Chinese Han population in Shaanxi province including 29 KBD patients,30 controls living in the KBD area and 43 living in the non-KBD area. DNA samples were extracted using the Wizard Genomic DNA purification kit (http://www. Promega. com) and were amplified by polymerase chain reaction (PCR) technique. The PCR products were analyzed by ABI 3100 Genetic Analyzer.</p><p><b>RESULTS</b>(1) In KBD patients group, the allele number for 7 STR loci were 4,7,7,8,5,5 and 7, the genotype number were 5,12,13,11,10,9 and 13; (2) In the control population living in KBD area, the allele number for 7 STR loci were 4,9,7,6,6,6 and 8,t he genotype number were 5,10,12,14,12,9 and 13;(3) In the control population living in the non-KBD area, the allele number for 7 STR loci were 7,9,7,7,5,8 and 11, the genotype number were 9,16, 17,16,12,15 and 20;(4) Compared with the allele frequencies among three groups, there were significant differences between KBD patients and the controls living in the KBD area (D12S367: P = 0.034; D12S1638: P = 0.041) and the controls living in the non-KBD area (D12S367: P = 0. 029; D12S1638: P= 0 .028) in the D12S367 and D12S1638 loci; (5) There were significant differences among KBD patients (P = 0.036), controls living in the KBD area (P = 0.039) and controls living in the non-KBD area in the D12S1646.</p><p><b>CONCLUSION</b>There was significant difference between KBD patients and the controls in the D12S367 and D12S1638 loci.</p>

Determination of HLA-DRB1 gene polymorphism in Luoba ethnic group of Tibet / 中南大学学报(医学版)

OBJECTIVE@#To investigate the frequencies of allele and genotype of HLA-DRB1 gene in Luoba ethnic group.@*METHODS@#HLA-DRB1 genes from 92 individuals of Luoba ethnic group in Tibet Autonomous region were investigated, using PCR-SSO (polymerase chain reaction -sequence specific oligo-nucleotide) genotyping methods. We compared allele frequencies of Luoba population in HLA-DRB1 locus with that of various ethnic groups distributed worldwide, constructed the phylogenetic tree by UPGMA (unweighted pair group method with arithmetic mean), and counted genetic distance by Nei measure.@*RESULTS@#Of the 11 DRB1 alleles detected, the two most common genes were DRBI * 04( gene frequency: 27.20% ) and DRB * 12 (25.50%) , which covered 52.70% of the total alleles detected from Luoba ethnic group. The frequencies of HLA-DRB1 * 14(15.20% ), DRB1 * 15(9.80% ) and DRB1 * 08(8.20% ) were more than 5%. Luoba was unique in the distribution of HLA alleles. The genetic distance between Luoba and Tibetan was closer than that with other population. A dendrogram based on the DRB1 genes by cluster analysis suggested that Luoba ethnic group might cluster with Tibetan firstly, then cluster with other population living in China (except Uygr) , and cluster with Caucasian and Black finally.@*CONCLUSION@#The HLA-DRBI gene frequency of Luoba individuals in Tibet Linzhi had some differences compared with that of other Chinese population. The kindred relation between Luoba and Tibetan was closer than that with other population, which was coincident with the results of ethnology, history and sociology.