Search PubMed⌕ Search

Biomedical subjects

B Tong

Publications and source records attributed to B Tong.

18 recordsLinked to original sources

[Chemical assessment of mutagenicity of halohydrocarbons: FTIR, UV spectrum characteristics of guanine-halohydrocarbon adducts].

Determination and identification of guanine-halohydrocarbon adduct isomers were carried out by high performance liquid chromatography (HPLC) and Fourier transform infrared spectroscopy (FTIR). The experimental results showed that the UV spectral overlay of O6-guanine adducts retrieved after HPLC at 260-270 nm. The UV spectra of N-side adducts are similarly between 240-250 nm. After thin layer chromatographic separation (silica gel-GF254), the all IR spectra of the N-side adducts of guanine with different halohydrocarbons showed a absorption near 1700 cm-1 assigned the characteristic peak of C=O. The IR spectra among the adducts of O6-guanine with different halohydrocarbons are quite similar.

Chromatography, High Pressure Liquid↗

[Imaging diagnosis of intestinal tuberculosis].

OBJECTIVE: To assess significance and limitation of CT and radiological gastrointestinal examination in the diagnosis of the intestinal tuberculosis. METHODS: 22 cases of intestinal tuberculosis proven pathologically were analyzed. CT scans and radiological examination were performed (barium meal examination in 18 cases, intestinal or colonic double contrast examination in 10 cases and hypotonic duodenography in 3 cases). RESULTS: Sensitivity and specificity of diagnosing the intestinal tuberculosis with CT were inferior than that with radiological examination. Lesions in small intestine (not including ileocecal region) were not easily identified by CT scan. However, CT scan was more preferable in identifying abdominal tuberculosis other than intestinal tuberculosis, especially typical tuberculous lymphadenopathy. Intestinal radiological examination was of great significance for the assessment of the status of intestinal tuberculosis by demonstrating mucosal alterations, morphologic appearance of ulcer, bowel deformation, and the involvement of lesion and fissures. CONCLUSIONS: Gastrointestinal radiological examination and CT scans possess their diagnostic value, but have limitation in diagnosis of intestinal tuberculosis. CT scans combined with gastrointestinal radiological examination further improve the accuracy of diagnosis.

Adult↗

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

BACKGROUND: Fabry disease, an inborn error of glycosphingolipid catabolism, results from mutations in the X-chromosomal gene encoding the lysosomal exoglycosidase, alpha-galactosidase A (alpha-Gal A; EC 3.2.1.22). The nature of the molecular lesions in the alpha-Gal A gene in 36 unrelated families was determined in order to provide precise heterozygote detection, prenatal diagnosis, and to define genotype/phenotype correlations. METHODS: Genomic DNA was isolated from affected males and/or carrier females from 36 unrelated families with Fabry disease. The entire alpha-Gal A coding region and flanking intronic sequences were analyzed by PCR amplification and solid-phase or cycle sequencing. Markers closely linked to the alpha-Gal A gene were analyzed to determine if probands with the same mutations were related. RESULTS: Twenty-two novel mutations were identified including 10 missense (P40L, W95S, S148N, C172R, M187V, N224S, W226R, A230T, D266H, N320Y), three nonsense (Y134X, C142X, W204X in two families), three splice-site defects (IVS2(+1), IVS3(+1), IVS4(+1)) and six small deletions or insertions (26delA in two families, 672ins37, 774delAC, 833insA, 1139delC, 1188insT). Of the remaining 12 families (33.3%), each had a previously identified mutation, eight of which occurred at CpG dinucleotides including R112C (two families), R112H, R227Q, R227X (three families), and R301Q. Haplotype analysis of the mutant alleles that occurred in two or three presumably unrelated families revealed that the families with the rare novel alleles (W204X and 26delA) were probably related, whereas those with mutations involving CpG dinucleotides (R112C and R227X) were not, the latter being consistent with their origins as independent mutational events. Genotype/phenotype correlations revealed that certain mutations previously found in mild variant patients also were found in classic patients. In addition, the genotypes and spectrum of phenotypic severity were determined in five heterozygotes with no family history. CONCLUSIONS: These results illustrate the molecular heterogeneity of the lesions causing Fabry disease and emphasize the fact that CpG dinucleotides constitute important hot spots for mutation in the alpha-Gal A gene. These studies also permit precise heterozygote detection and prenatal diagnosis in these families, and delineate phenotype-genotype correlations in this disease.

Amino Acid Sequence↗

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

BACKGROUND: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A). The nature of the molecular lesions in the alpha-Gal A gene in 30 unrelated families was determined to provide precise heterozygote detection, prenatal diagnosis, and define genotype-phenotype correlations. MATERIALS AND METHODS: Genomic DNA was isolated from affected males and/or carrier females from 30 unrelated families with Fabry disease. The entire alpha-Gal A coding region and flanking intronic sequences were analyzed by PCR amplification and automated sequencing. RESULTS: Twenty new mutations were identified, each in a single family: C142R, G183D, S235C, W236L, D244H, P259L, M267I, I289F, Q321E, C378Y, C52X, W277X, IVS4(+4), IVS6(+2), IVS6(-1), 35del13, 256del1, 892ins1, 1176del4, and 1188del1. In the remaining 10 unrelated Fabry families, 9 previously reported mutations were detected: M42V, R112C, S148R, D165V, N215S (in 2 families), Q99X, C142X, R227X, and 1072del3. Haplotype analysis using markers closely flanking the alpha-Gal A gene indicated that the two patients with the N215S lesion were unrelated. The IVS4(+4) mutation was a rare intronic splice site mutation that causes Fabry disease. CONCLUSIONS: These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing Fabry disease, permit precise heterozygote detection and prenatal diagnosis, and help delineate phenotype-genotype correlations in this disease. </AB

Alternative Splicing↗

Mutation of the PTEN tumor suppressor gene is not a feature of ovarian cancers.

OBJECTIVE: The PTEN tumor suppressor gene on chromosome 10q23 undergoes inactivating mutations in several types of malignancies including glioblastomas and prostate and endometrial carcinomas. The aim of this study was to determine if mutation of the PTEN tumor suppressor gene is a feature of sporadic or BRCA1-associated ovarian carcinomas. METHODS: Genomic deoxyribonucleic acid was extracted from 11 ovarian cancer cell lines and 50 frozen ovarian cancers, including 4 cases that developed in women with germline mutations in the BRCA1 breast/ovarian cancer susceptibility gene. The polymerase chain reaction was used to amplify each of the nine exons and intronic splice sites of the PTEN gene. These products were then screened for mutations using single strand conformation polymorphism analysis. Variant bands were further evaluated using automated DNA sequencing. RESULTS: A previously unreported silent polymorphism at codon 240 (TAT to TAC) in exon 7 was noted in one of the primary ovarian carcinomas. Mutations in the PTEN gene were not found in any of the 50 primary ovarian cancers or 11 immortalized ovarian cancer cell lines. CONCLUSION: Alteration of the PTEN tumor suppressor gene does not appear to be a feature of sporadic or BRCA1-associated ovarian cancers.

Exons↗

The Gfi-1B proto-oncoprotein represses p21WAF1 and inhibits myeloid cell differentiation.

Gfi-1 is a cellular proto-oncogene that was identified as a target of provirus integration in T-cell lymphoma lines selected for interleukin-2 (IL-2) independence in culture and in primary retrovirus-induced lymphomas. Gfi-1 encodes a zinc finger protein that functions as a transcriptional repressor. Here we show that Gfi-1B, a Gfi-1 related gene expressed in bone marrow and spleen, also encodes a transcriptional repressor. IL-6-induced G1 arrest and differentiation of the myelomonocytic cell line M1 were linked to the downregulation of Gfi-1B and the parallel induction of the cyclin-dependent kinase inhibitor p21WAF1. Experiments addressing the potential mechanism of the apparent coordinate regulation of these genes revealed that Gfi-1B represses p21WAF1 directly by binding to a high-affinity site at -1518 to -1530 in the p21WAF1 promoter. Forced expression of Gfi-1B, but not of Gfi-1B deletion mutants lacking the repressor domain, blocked the IL-6-mediated induction of p21WAF1 and inhibited G1 arrest and differentiation. We conclude that Gfi-1B is a direct repressor of the p21WAF1 promoter, the first such repressor identified to date, and that sustained expression of Gfi-1B blocks IL-6-induced G1 arrest and differentiation of M1 cells perhaps because it prevents p21WAF1 induction by IL-6.

3T3 Cells↗

Mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese.

Exon 7 of the phenylalanine hydroxylase (PAH) gene was analyzed in 45 children affected with classic phenylketonuria (PKU) from northern China by using PCR-single strand conformation polymorphism (PCR-SSCP) technique and DNA direct sequencing. Six missense mutations(i.e. R243Q, R241H, G247V, L249H, F2541 and G257V) and one silent mutation (V245v) were identified. The latter three missense mutations were demonstrated as novel mutations in comparison with the PAH mutation database. One missense mutation (R241H) was first documented in Chinese. Our results showed population and region differences in the PAH mutation distribution, and suggest that there is more than one founding population for PKU in China. The finding of novel mutations will enhence the molecular diagnosis of PKU.

Asian People↗

[Observation on electrogastrogram changes during parallel swing stimulation].

In order to study the relationship between cutaneous electrogastrogram (EGG) and nausea syndrome of the motion sickness, power spectrum analysis is used to analyze EGG recorded during motion sickness evoked by the parallel swing in 32 healthy men. 20 subjects showed a shift of Period Dominant Frequency (PDF) of EGG from Three CPM (2.40-3.70cpm) to Tachygastria (3.70-10.00cpm). PDF, the percentage of power of Tachygastria wave and Dominant Frequency Instability Coefficient significantly increased (P < 0.01). The incidences of nausea syndrome was obvious at the moment after swing. The result showed that EGG may be used for testing nausea symptoms of motion sickness.

Electrodiagnosis↗

[Comparison of evaluation methods on changes of facial microcirculation during induction of motion sickness].

In order to increase the accuracy of motion sickness grading criteria, infrared thermography and Laser Doppler microcirculation blood-flow detector were used in 60 healthy male individuals: before, immediately, and 20 min after paralleled-swing stimulation. Facial skin temperature and microvessel blood-flow were recorded. The results showed that facial skin temperature and blood flow in facial microvessels fell together with the appearance of pallor. However, the degree of pallor observed with naked eye was inconsistent with that found by thermography or facial blood flow. It suggests that the accuracy of grading might be improved with the use of thermography or measurement of facial microvessel blood flow.

Face↗

[Observation of changes of cardiovascular function during 2.5h HDT (-15 degrees) with sphygmogram method].

To understand the changes of cardiovascular functions in the initial stage of space flight, the changes in 19 healthy young men during 2.5h head down tilt (HDT) (15 degrees) were observed with CF-II cardiovascular function detecting and diagnosing equipment. The blood pressure and sphygmogram of left radial arterial were recorded in sedentary condition and at 10th, 30th, 60th, 90th, 120th and 140th minute of HDT. The results showed that changes of cardiovascular indices during HDT can be divided into acute regulation stage (< 1h) and the regulation stage (1-2.5 h); circulatory blood volume, stroke volume and cardiac output were increased, while heart rate, pre and after load of the heart, CVP, coronary circulatory function, blood pressure and systemic vascular resistance were decreased; the vagus feedback index increased and the regulation function of vasscule decreased. Most of the changes of cardiovascular indices as reflected in the sphygmogram are in consistent with the reported result in space flight or simulated micro-G, so the sphygmogram method might be applied to space medical research.

Aerospace Medicine↗

[Novel mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese].

Exon 7 of the phenylalanine hydroxylase (PAH) gene was analyzed in 45 children affected with classic phenylketonuria (PKU) from northern China by using PCR-single strand conformation polymorphism (PCR-SSCP) technique and DNA direct sequencing. Six missense mutations (i.e. R243Q, R241H, G247V, L249H, P254I and G257V) and one silent mutation (V245V) were identified. The latter three missense mutations were demonstrated as novel mutations in comparison with the PAH mutation Database. One missense mutation (R241H) was first documented in Chinese. Our results showed population and regional differences in the PAH mutation distribution and suggest that there is more than one founding population for PKU in China. The finding of novel mutations will enhance our capability in molecular diagnosis of PKU.

Child↗

The Gfi-1 proto-oncoprotein contains a novel transcriptional repressor domain, SNAG, and inhibits G1 arrest induced by interleukin-2 withdrawal.

The Gfi-1 proto-oncogene is activated by provirus insertion in T-cell lymphoma lines selected for interleukin-2 (IL-2) independence in culture and in primary retrovirus-induced thymomas and encodes a nuclear, sequence-specific DNA-binding protein. Here we show that Gfi-1 is a position- and orientation-independent active transcriptional repressor, whose activity depends on a 20-amino-acid N-terminal repressor domain, coincident with a nuclear localization motif. The sequence of the Gfi-1 repressor domain is related to the sequence of the repressor domain of Gfi-1B, a Gfi-1-related protein, and to sequences at the N termini of the insulinoma-associated protein, IA-1, the homeobox protein Gsh-1, and the vertebrate but not the Drosophila members of the Snail-Slug protein family (Snail/Gfi-1, SNAG domain). Although not functionally characterized, these SNAG-related sequences are also likely to mediate transcriptional repression. Therefore, the Gfi-1 SNAG domain may be the prototype of a novel family of evolutionarily conserved repressor domains that operate in multiple cell lineages. Gfi-1 overexpression in IL-2-dependent T-cell lines allows the cells to escape from the G1 arrest induced by IL-2 withdrawal. Since a single point mutation in the SNAG domain (P2A) inhibits both the Gfi-1-mediated transcriptional repression and the G1 arrest induced by IL-2 starvation, we conclude that the latter depends on the repressor activity of the SNAG domain. Induction of Gfi-1 may therefore contribute to T-cell activation and tumor progression by repressing the expression of genes that inhibit cellular proliferation.

3T3 Cells↗

J774A.1 macrophage cell line produces PDGF-like and non-PDGF-like growth factors for bone cells.

In light of evidence that macrophages participate in the local regulation of bone remodeling, we have examined the production of peptide stimulators of bone cell growth and specialization by the J774A.1 macrophage cell line. Cultured J774A.1 cells secrete growth-promoting activities which have an affinity for heparin. The first partially purified material, termed HEP I, appears to contain platelet-derived growth factor (PDGF)-like activity. It has a molecular weight of about 30,000 daltons, inhibits the binding of labeled PDGF to its receptors, reacts with polyclonal anti-human PDGF antibody, and exhibits mitogenic activity for osteoblasts, which is partially blocked by anti-PDGF antisera. Like PDGF, HEP I is active in a wide variety of mesenchyme-derived cells, including osteoblasts, chondrocytes, smooth muscle cells, fibroblasts, 3T3 cells and NRK cells. The J774A.1 cells contain mRNA, which hybridizes to a v-sis DNA probe, suggesting that they express the c-sis gene, which contains the code for a PDGF-like protein. The second factor, HEP II, has an approximate molecular weight of 20,000 daltons and possesses substantial mitogenic activity for osteoblasts, chondrocytes, and smooth muscle cells, but is not mitogenic for fibroblasts, 3T3 cells, and NRK cells. HEP II appears to be a unique bone cell mitogen, which is distinct from the growth factors presently known. Neither HEP I nor HEP II contained interleukin 1, a macrophage product known to promote bone resorption and perhaps the growth and activity of osteoblasts.

Animals↗

Mitochondrial DNA of the extinct quagga: relatedness and extent of postmortem change.

Sequences are reported for portions of two mitochondrial genes from a domestic horse and a plains zebra and compared to those published for a quagga and a mountain zebra. The extinct quagga and plains zebra sequences are identical at all silent sites, whereas the horse sequence differs from both of them by 11 silent substitutions. Postmortem changes in quagga DNA may account for the two coding substitutions between the quagga and plains zebra sequences. The hypothesis that the closest relative of the quagga is the domestic horse receives no support from these data. From the extent of sequence divergence between horse and zebra mitochondrial DNAs (mtDNAs), as well as from information about the fossil record, we estimate that the mean rate of mtDNA divergence in Equus is similar to that in other mammals, i.e., roughly 2% per million years.

Animals↗

Modulation of the sis gene transcript during endothelial cell differentiation in vitro.

Endothelial cells, which line the interior walls of blood vessels, proliferate at the site of blood vessel injury. Knowledge of the factors that control the proliferation of these cells would help elucidate the role of endothelial cells in wound healing, tumor growth, and arteriosclerosis. In vitro, endothelial cells organize into viable, three-dimensional tubular structures in environments that limit cell proliferation. The process of endothelial cell organization was found to result in decreased levels of the sis messenger RNA transcript and increased levels of the messenger RNA transcript for fibronectin. This situation was reversed on transition from the organized structure to a proliferative monolayer. These results suggest a reciprocity for two biological response modifiers involved in the regulation of endothelial cell proliferation and differentiation in vitro.

Cell Differentiation↗

Construction of phi80 dhis carrying Salmonella typhimurium histidine operon mutations.

Starting with a previously isolated F'his episome and phi80 dhis imm(lambda) cI857 transducing phage, we have constructed recombinant elements bearing previously isolated his mutations from Salmonella typhimurium. These phages were constructed as sources of deoxyribonucleic acid for in vitro biochemical experiments on gene regulation. The manipulation of genes between S. typhimurium and Escherichia coli described here may be useful in studying other S. typhimurium operons.

Alleles↗