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Biomedical subjects

Li Jin

Publications and source records attributed to Li Jin.

108 records · Page 6Linked to original sources

Linkage analysis of twelve candidate gene loci regulating water and sodium metabolism and membrane ion transport in essential hypertension.

To investigate the relationship between 12 candidate genes responsible for water regulation, sodium metabolism and membrane ion transport and essential hypertension (EH) in the Chinese. Linkage analysis of EH was performed in 95 Chinese nuclear families including 477 subjects using a technique of fluorescence-based gene scanning with 12 microsatellite markers. Markers were selected on the chromosomal regions covering 12 candidate genes responsible for regulating water and sodium metabolism and membrane ion transport. These candidate genes included sodium hydrogen exchanger 3, sodium hydrogen exchanger 5, chloride bicarbonate exchanger 3, sodium calcium exchanger 1, mineralocorticoid receptor, plasma membrane calcium ATPase 2, ATPase,Na/K transporting alpha, a-adducin, SA gene, kidney epithelial sodium channel-gamma, vasopressin receptor 1A, and 11beta-hydroxysteroid dehydrogenase type 2 genes. Two-point non-parametric linkage analysis (NPL), maximum LOD score analysis and transmission/disequilibrium test (TDT) were performed using the GENEHUNTER software package. The NPL analysis and LOD score suggested a significant linkage at D12S398 (Z = 2.08, p<0.05 and LOD score = 1.26, p<0.01, respectively). TDT indicated a significant disequilibrium of transmission at the locus chi2 = 9.00, p < 0.005). No significant linkages were found at the other loci tested (p > 0.05 or LOD < -1). In conclusion, D12S398, a marker near the vasopressin receptor 1A gene (V1AR), showed a positive linkage with EH based on the results of three statistical methods (NPL, LOD score, and TDT). This region warrants further exploration.

Adult↗

[Two single nucleotide polymorphisms of beta 2-adrenoceptor gene in elderly patients with hypertension].

OBJECTIVE: To investigate the association of two single nucleotide polymorphisms (SNPs) of beta 2-adrenoceptor (beta 2-AR) gene with hypertension in elderly patients. METHODS: The study samples were collected from unrelated Chinese Han population of Dabie Mountain in Anhui province. Eighty-six elderly patients with hypertension and 43 controls were selected. Genotypes of +1053 and +1239 SNPs were typed by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: The frequencies of the two SNPs complied well with the Hardy-Weinberg equilibrium in normal group. The distribution of genotypes AA, GA,GG of the SNP at locus +1239 in moderate and severe hypertension group was significantly different from that in normal group (chi square=8.67, P<0.05). There were evident differences in the frequencies of alleles of the two groups (chi square=4.02, P<0.05). No significant difference was observed in the distribution of genotypes of the SNP at locus +1053 between the two groups. CONCLUSION: These data indicate that the SNP at locus +1239 of beta 2-AR gene is associated with hypertension in elderly patients.

Aged↗

[Systematic evaluation of the new screen methods of cervical intraepithelial neoplasm].

OBJECTIVE: To evaluate new cytologic screening methods of papnet cytology computer technology (CCT) and thinprep pap test (TPT) on cervical intraepithelial neoplasm (CIN). METHODS: Three hundred and seventy four cases with abnormal cervical cytologic results received colposcopic examinations and multiple biopsies. The results of cytologic screening compared with the results of histologic-colposcopic diagnosis were analysed retrospectively. RESULTS: A total of 374 cases were diagnosed by cytology, 9.1% with inflammations, 43.3% with low grade squamous intraepithelial lesion (LSIL) and 20.3% with high grade squamous intraepithelial lesion (HSIL) and 1.9% suspected with squamous cell carcinoma. However, after examination by colposcopy and multiple biopsies, the situation was different. The percentage of cases with inflammation increased to 53.5%, cervical intraepithelial neoplasm I (CIN I) decreased to 17.9%, CIN II and CIN III and cervical carcinoma in situ (CIS) elevated to 25.4% and invasive squamous cell carcinoma increased to 3.2%. Among cases with atypical squamous cell of undetermined significance (ASCUS), 52.6% (50/95) were with inflammations or negative results, 47.4% (45/95) with CIN I or even greater. Among 374 cases, 188 women were screened by CCT and 186 by TPT. When all cytological findings compared with the histologic-colposcopic results, respectively, the coincidence of TPT with histologic-colposcopic results was significantly higher than that of CCT (P < 0.01). The coincidence rate (79.7%) of screening cases with LSIL or inflammation was significantly higher than that (20.3%) of cases with HSIL or even greater (P < 0.01). But there was no difference between two methods. The incidence of human papillomaviral infection (HPV) infection at colposcopies was 34.0%. The high incidences of HPV and CIN infection were found among women from 20 to 30 years old and from 30 to 50 years old, respectively. CONCLUSIONS: Cases with abnormal cytologic findings should undergo colpscopic examination and multiple biopsies for further diagnosis. Only in this way, cases with CIN or HPV infection could not be misdiagnosed. Women ranged from 30 - 50 years old should receive cytologic screening or colposcopic examination regularly.

Adult↗

[Linkage analysis of cytokine and cytokine-related receptor gene loci and essential hypertension in Chinese].

OBJECTIVE: To investigate the genetic linkage between several cytokine and cytokine-related receptor gene loci and essential hypertension (EH) in Chinese. METHODS: Linkage between seven genetic markers and EH in 95 Chinese nuclear families with EH (including 477 subjects) was analyzed using a technique of fluorescence-based gene scan with DNA short tandem repeat loci. These markers were selected from the chromosomal regions nearby eight cytokines and their receptor genes. The two-point non-parametric linkage analysis (NPL), maximum Lod score and transmission/disequilibrium test (TDT) with GENEHUNTER software package were used in this study. RESULTS: Result of TDT showed significant transmission disequilibrium between D14S61 and EH (Chi square 14.29,P=0.00016) although NPL and Lod score revealed no significant linkage (Z=0.78, P>0.05 and Lod score =0.72 respectively) at this locus. No linkage between other loci typed and EH was found by the three genetic analysis methods (P>0.05 or Lod score<-1). CONCLUSION: Alleles at D14S61 were of significant transmission disequilibrium in affected siblings. Transforming growth factor beta 3 is 0.1 cM away from D14S61, which suggests that the relationship between genes at or near this regions and EH needs to be further explored.

Adult↗

[Linkage analysis of 13 vasoactivity-regulating short tandem genes loci in essential hypertension in Chinese].

OBJECTIVE: To investigate whether linkage between essential hypertension (EH) and genetic loci near renin-angiotensin system, endothelin system, nitric oxide synthase, adrenergic receptor genes in Chinese. METHODS: Linkage analysis of thirteen candidate gene loci and EH was performed in 95 Chinese nuclear families including 477 subjects using a technique of fluorescence-based gene scan with DNA short tandem repeat. The markers were selected on the chromosomal regions containing candidate genes regulating vasoactivity. GENEHUNTER package were used for two-point, non-parametric linkage analysis (NPL), maximum Lod score and transmission/disequilibrium test (TDT) in this study. RESULTS: The results of TDT indicated relatively small P values at D1S1678, D3S1744, D4S1604, D13S800, D7S483 and D8S255 (0.01 < P < 0.05). No significant linkages was found at any locus by Lod score and NPL analysis (Lod </= -1, P >/= 0.05). CONCLUSIONS: TDT is considered as a sensitive test for detecting linkage disequilibrium. Significant linkage was found at 6 of the 13 loci typed in Chinese nuclear families with hypertension by using TDT, but no evidence suggested linkage of any locus to EH by NPL and Lod score. It is worthwhile to pay attention to chromosomal regions near the loci with small P values.

Asian People↗

Linkage analysis of a region on chromosome 2 with essential hypertension in Chinese families.

OBJECTIVE: To verify the linkage of the candidate regions identified in a previous study (markers D2S168, D2S151, D2S142 on chromosome 2) with hypertension in Chinese families. METHODS: A genetic linkage study focused on chromosome 2 was performed on 240 Chinese families containing 856 patients with essential hypertension. A total of 1080 individuals were genotyped using 9 highly polymorphic microsatellite markers around the candidate regions on chromosome 2 with an average spacing of 5 cM. Non-parametric linkage (NPL), parametric linkage analysis and transmission-disequilibrium test (TDT) with the GENEHUNTER software were used to assess evidence for linkage. RESULTS: Linkage of a region on chromosome 2 around D2S151 and D2S142 with hypertension was confirmed by different statistical methods (NPL, LOD score and TDT). However, the linkage of D2S168 could not be replicated in this extension study. CONCLUSIONS: The data suggest that a region on chromosome 2 at or near the loci of D2S142 and D2S151 may harbor genes responsible for the development of essential hypertension in Chinese.

Alleles↗

[Origins and migrations of Bouyei people in China--insights from Y chromosome and mitochondrion].

The frequency of Y-chromosome haplotypes consisted of thirteen single nucleotide polymorphism alleles in Bouyei people was investigated using PCR-RFLP. And the polymorphism of mitochondrial DNA Region V was studied. Nine Y-chromosome haplotypes (H1, H4, H5, H6, H7, H8, H9, H11, H12) and two mtDNA alleles (9-bp deletion) were obtained in the samples. The frequency distribution of these haplotypes and mtDNA polymorphisms in Bouyei people were very similar to that in Daic speaking populations including Zhuang, Li, Dong, and Yao people from Jinxiu, indicating a close genetic relationship among those populations implicating a common ancestry. A hypothesis of the origin of Bouyei people was proposed.

China↗

[The analysis of the surnames and intermarriages of the suburbanites of Shanghai].

The origins of the suburban native of shanghai are varied. With the methods of correlation analysis and principal analysis, we random sampled the surnames of 13 villages and towns located in the districts of Shanghai, and found that Jading, Pudong, Nanhui and the east part of Fengxian make up the group of northeast part, while Jinshan, Songjiang, Qingpu and Chongming make up a completely different one from the other. The surnames of Nanxiang's origin are complex, while Maqiao and Jinhui's are of special kind. The surnames recorded in pedigree have apparent correlation with the modern ones. Moreover, the surnames of northeast part are mainly derived from the areas north to Yangtze River, but those of southwest part come from the areas south to Yangtze River. This explains that the origins of the two districts' throng may be different. The residents of the northeast part, which formed land comparatively recent, probably came from north areas after Tang and Song periods, while those of southeast part came from other northern areas. The residents of shell bar districts such as Maqiao and Jinhui have inherited relation with the culture of remote antiquities of Maqia. The contributing factors of surname are diversified. By researching into the scope of intermarriage of 20th century in Jinhui, we found that before 70's, the intermarriage radius was fixed in 5 kilometers because of match maker custom; in the 70's & 80's, unrestrained love reduced the intermarriage radius into same village about 3 kilometers; after in 90's, the intermarry radius expand to every province because of the rapid social and economic development. The intermarriage scope and consanguinity natural diffuseness can stand for the situations in shanghai and in large parts of south China. The assimilation of adjacent villages under matchmaker custom takes over 2000 years, while takes over 7000 years under unrestrained love. We can see that the impact of the natural diffuseness is rather weak, and the mixed living of emigrants is the main factor. The history of every colony's adjacent living is far shorter than that of assimilation. So there is almost no mixed race in this period. The most parts of south China's situations should be similar. The broken of traditional intermarry suggests us that the auto-disappear speed of abundant genetic resource is high. It is now the most pressure time to gather and research our genetic resource.

Adolescent↗

[Analysis of mutation sites of BRCA1 gene in Chinese patients with breast cancer].

OBJECTIVE: To detect the mutation sites of exons 2, 20, 11A and 11B in Chinese patients with breast cancer. METHODS: A total of 86 patients with breast cancer without blood relationship were randomly selected. Polymerase chain reaction (PCR) and double-strand DNA direct sequencing were applied. RESULTS: No mutations, especially deletions were found in exons 2, 20 and 11 with carefully checking the sequencing results, although they were reported frequently in Europe populations with breast cancer. We found one polymorphism in exon 11, with high frequency, and in the test of chi-square, the frequencies of two alleles had no significant difference between the patients and controls. CONCLUSION: The above results suggest this SNP may not be associated with the breast cancer in Chinese population, and indicates that the gene sequence of what we have studied doesn't account much for occurrence of the breast cancer in the population of China.

Asian People↗

[Selection of donor in mismatched hematopoietic stem cell transplantation by CREG, residue match and HLA three-dimensional structure].

After search at hematopoietic stem cell banks for transplant donors, there may be several donors matched with given standards. To determine the most appropriate donor for a specific patient, the potential donors were analyzed and compared by three methods. The first is cross-reactive group (CREG) antigens, which defined as the public antigens that shared specific serological reaction patterns. The second is residue match theory, which concerned the three residues oriented upward toward the T-cell receptor. The third is comparing HLA three-dimensional structure models. The results of the three methods were not completely accorded in our case. However, some less matched donors could be excluded from the candidates and the range of selection was further reduced. It is concluded that combined application of three methods would contribute in selecting donor for hematopoietic stem cell transplantation in clinics.

Cross Reactions↗

[Expression of alpha subunit for IL-6 receptor at mRNA and protein levels in human leukemic cells].

To probe into the expression of alpha subunit for IL-6R at both mRNA and protein levels in human leukemic cells and to discuss its implication in targeted treatment for leukemia with recombinant IL-6-PE40 exotoxin fusion protein mediated by IL-6/IL-6R system, semi-quantitative RT-PCR, sequencing and FCM were used to analyze the gene and protein expression levels of alpha subunit for IL-6R in leukemic cells. Our results showed that not only mRNA but also protein of alpha subunit for IL-6R are highly expressed in the myelogenous leukemic cell lines, the relative expression levels of mRNA were KG-1(1.22) > (1.02) > U266(1.00) > U937(0.99) > HL-60(0.76). Among lymphoblastic leukemic cell lines, Raji expressed a certain amount of alpha subunit mRNA (0.77), whereas its alpha subunit protein was not detected. Expression of alpha subunit mRNA and protein were negative in lymphoblastic leukemic cell lines, HuT28 and CEM, and chronic myelocytic leukemic cell line K562. These results correlate with those of FCM highly. Noteworthily, normal human peripheral blood mononuclear cells expressed hardly protein of IL-6R alpha subunit. So this study provides sufficient experimental evidence that the targeted treatment by recombinant IL-6-PE40 can specifically kill leukemic cells highly expressing IL-6R without toxicity to normal hematopoietic cells.

Base Sequence↗

The dual origin and Siberian affinities of Native American Y chromosomes.

The Y chromosomes of 549 individuals from Siberia and the Americas were analyzed for 12 biallelic markers, which defined 15 haplogroups. The addition of four microsatellite markers increased the number of haplotypes to 111. The major Native American founding lineage, haplogroup M3, accounted for 66% of male Y chromosomes and was defined by the biallelic markers M89, M9, M45, and M3. The founder haplotype also harbored the microsatellite alleles DYS19 (10 repeats), DYS388 (11 repeats), DYS390 (11 repeats), and DYS391 (10 repeats). In Siberia, the M3 haplogroup was confined to the Chukotka peninsula, adjacent to Alaska. The second major group of Native American Y chromosomes, haplogroup M45, accounted for about one-quarter of male lineages. M45 was subdivided by the biallelic marker M173 and by the four microsatellite loci alleles into two major subdivisions: M45a, which is found throughout the Americas, and M45b, which incorporates the M173 variant and is concentrated in North and Central America. In Siberia, M45a haplotypes, including the direct ancestor of haplogroup M3, are concentrated in Middle Siberia, whereas M45b haplotypes are found in the Lower Amur River and Sea of Okhotsk regions of eastern Siberia. Among the remaining 5% of Native American Y chromosomes is haplogroup RPS4Y-T, found in North America. In Siberia, this haplogroup, along with haplogroup M45b, is concentrated in the Lower Amur River/Sea of Okhotsk region. These data suggest that Native American male lineages were derived from two major Siberian migrations. The first migration originated in southern Middle Siberia with the founding haplotype M45a (10-11-11-10). In Beringia, this gave rise to the predominant Native American lineage, M3 (10-11-11-10), which crossed into the New World. A later migration came from the Lower Amur/Sea of Okhkotsk region, bringing haplogroup RPS4Y-T and subhaplogroup M45b, with its associated M173 variant. This migration event contributed to the modern genetic pool of the Na-Dene and Amerinds of North and Central America.

Alleles↗

Immune and artificial selection in the haemagglutinin (H) glycoprotein of measles virus.

We present a maximum likelihood (ML) analysis of the selection pressures that have shaped the evolution of the large (L) protein and the haemagglutinin (H) glycoprotein of measles virus (MV). A number of amino acid sites that have potentially been subject to adaptive evolution were identified in the H protein using sequences from every known genotype of MV. All but one of these putative positively selected sites reside within the ectodomain of the H protein, where they often show an association with positions of potential B-cell epitopes and sites known to interact with the CD46 receptor. This suggests that MV may be under pressure from the immune system, albeit relatively weakly, to alter sites within epitopes and hence evade the humoral immune response. The positive selection identified at amino acid 546 was shown to correlate with the passage history of MV isolates in Vero cells. We reveal that Vero cell passaging has the potential to introduce an artificial signal of adaptive evolution through selection for changes that increase affinity for the CD46 receptor.

Amino Acid Sequence↗

Expression of Human Single Chain Interleukin 12 Gene in Drosophila Cells.

The hscIL-12 gene(no signal sequence), amplified by PCR, was subcloned into an expressing vector pMT/Bip/V5. The recombinant plasmid was transferedinto Drosophila cell line S2. The secreted hscIL-12 fusion protein was identified by Western blot, and the bioactivity of hscIL-12 was investigated by lymphocyte proliferation assay. The results showed hscIL-12 expressed in S2 cells could stimulate lymphocyte proliferation in dose-dependent manner. hscIL-12 has bioactivity identical to natural interleukin 12. These findings suggest that hscIL-12 is promising in theoretical reseach and in clinical use.

Journal Article↗

[A New Criterion for Donor and Recipient Selection in Hematopoietic Stem Cell Transplantation - the Matching of Three-Dimensional Structure of HLA Molecular Modeling]

The purpose of the research is to provide a new standard for matching of HLA three-dimensional structure, and summarize the major permissible mismatch and immunogenic mismatch antigens. The molecular modeling method was used to create HLA molecular structures by Swiss Model Server, and the comparison of the differences among the alleles was done by SPDV software with the function of iterative magic fit. The results were recorded by relative mean square deviation (RMSD, nm). The differences among alleles were scattered below 0.06 nm for HLA-A and -B molecules, and below 0.03 nm for HLA-DRB1 molecules. On the basis of the statistical analysis, when RMSD is greater than 0.04 nm for -A and -B molecules and 0.02 nm for -DRB1 molecules, the difference is meaningful and can be related with graft versus host disease. When RMSD is lower than 0.02 nm for -A and -B molecules and 0.01 nm for -DRB1 molecules, the difference is decided unmeaningful. From the data, the permissible mismatch and immunogenic mismatch alleles within HLA-A, HLA-B and HLA-DRB1 molecules were summarized. Three-dimensional structure matching is a new area in the transplantation field, much research should be done in the future.

Journal Article↗

[The Comparison between the Killing Effects of Two Anti-T Immunotoxins on Target Cells]

The key to killing target cells by immunotoxin depends on the specific recognition of antibody to target cell and the cytotoxic effect of toxin. The comparative study of the killing effects of two anti-T immunotoxins, CD5:Ricin and CD5:rRA, on target cells was performed. The elimination rate of immunotoxins was analysed by flow cytometry and MLR. The effect of immunotoxins on the proliferation of hematopoiesis was evaluted by CFU-GM. The results showed that (1) CD5(+) T cells were eliminated and CD25(+) CD3(+) activated T cells were concentration-dependently inhibited by the two immunotoxins in the range of 10(-9) - 10(-11) mol/L; (2) both immunotoxins significantly inhibited the mixed lymphocyte reaction, and the inhibiting effect of CD5:rRA to T cell proliferation was markedly lower than that of CD5:Ricin in the range of 10(-10) - 10(-11) mol/L; (3) the combination of CD5:rRA with 10 mmol/L NH(4)Cl increased the T cell elimination rate; and (4) the two immunotoxins and the combination of NH(4)Cl and CD5:rRA did not suppressed proliferation of granulocyte-macrophage progenitors in the range of concentrations with killing effect. It was concluded that T cell and activated T cell could be eliminated effectively by immunotoxins, the proliferation of granulocyte-macrophage progenitor was not inhibited significantly.

Journal Article↗

Maximum likelihood estimates of admixture in Northeastern Mexico using 13 short tandem repeat loci.

Tetrameric short tandem repeat (STR) polymorphisms are widely used in population genetics, molecular evolution, gene mapping and linkage analysis, paternity tests, forensic analysis, and medical applications. This article provides allelic distributions of the STR loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, CSF1PO, TPOX, TH01, and D16S539 in 143 Mestizos from Northeastern Mexico, estimates of contributions of genes of European (Spanish), American Indian and African origin in the gene pool of this admixed Mestizo population (using 10 of these loci); and a comparison of the genetic admixture of this population with the previously reported two polymorphic molecular markers, D1S80 and HLA-DQA1 (n = 103). Genotype distributions were in agreement with Hardy-Weinberg expectations (HWE) for almost all 13 STR markers. Maximum likelihood estimates of admixture components yield a trihybrid model with Spanish, Amerindian, and African ancestry with the admixture proportions: 54.99% +/- 3.44, 39.99% +/- 2.57, and 5.02% +/- 2.82, respectively. These estimates were not significantly different from those obtained using D1S80 and HLA-DQA1 loci (59.99% +/- 5.94, 36.99% +/- 5.04, and 3.02% +/- 2.76). In conclusion, Mestizos of Northeastern Mexico showed a similar ancestral contribution independent of the markers used for evolutionary purposes. Further validation of this database supports the use of the 13 STR loci along with D1S80 and HLA-DQA1 as a battery of efficient DNA forensic markers in Northeastern Mestizo populations of Mexico.

Genetic Markers↗

Directional mating and a rapid male population expansion in a hybrid Uruguayan population.

The Uruguayan population has been considered as mainly European descent, with a negligible Native American or African contributions. Based on serological and molecular markers, recent studies demonstrate that these two populations had an important influence in the conformation of the present one. To the Northeastern region of Uruguay, a 20% Native American contribution was estimated using autosomal markers and a 62% Native American female origin based on mitochondrial markers. In this paper, we analyze four Y chromosome markers, two biallelic loci (M3 and YAP) and two microsatellites (DYS389I and DYS391), to characterize the male genetic contribution of a sample from the Northeastern city of Tacuarembó. We take different approaches to estimate the origin of male contributions to the population of Tacuarembó; Native American contribution ranges between 1.60% and 8.31%, confirming strong directional mating, which was also detected before with mitochondrial markers. Furthermore, the male population of Tacuarembó presents the characteristic of a population that suffered a bottleneck and a posterior expansion, confirmed using two microsatellite-based statistics to analyze the past population growth; patrilocality and migration could be responsible of those characteristics.

Chromosomes, Human, Y↗