Electrophoretic Microplate Protein Identification Based on Gold Staining of Molybdenum Disulfide Hydrogels.

Numerous high-performance nanotechnologies have been developed, but their practical applications are largely restricted by the nanomaterials' low stabilities and high operation complexity in aqueous substrates. Herein, we develop a simple and high-reliability hydrogel-based nanotechnology based on the in situ formation of Au nanoparticles in molybdenum disulfide (MoS2)-doped agarose (MoS2/AG) hydrogels for electrophoresis-integrated microplate protein recognition. After the incubation of MoS2/AG hydrogels in HAuCl4 solutions, MoS2 nanosheets spontaneously reduce Au ions, and the hydrogels are remarkably stained with the color of as-synthetic plasmonic Au hybrid nanomaterials (Au staining). Proteins can precisely mediate the morphologies and optical properties of Au/MoS2 heterostructures in the hydrogels. Consequently, Au staining-based protein recognition is exhibited, and hydrogels ensure the comparable stabilities and sensitivities of protein analysis. In comparison to the fluorescence imaging and dye staining, enhanced sensitivity and recognition performances of proteins are implemented by Au staining. In Au staining, exfoliated MoS2 semiconductors directly guide the oriented growth of plasmonic Au nanostructures in the presence of formaldehyde, showing environment-friendly features. The Au-stained hydrogels merge the synthesis and recognition applications of plasmonic Au nanomaterials. Significantly, the one-step incubation of the electrophoretic hydrogels leads to high simplicity of operation, largely challenging those multiple-step Ag staining routes which were performed with high complexity and formaldehyde toxicity. Due to its toxic-free, simple, and sensitive merits, the Au staining integrated with electrophoresis-based separation and microplate-based high-throughput measurements exhibits highly promising and improved practicality of those developing nanotechnologies and largely facilitates in-depth understanding of biological information.

Ginsenoside Rh2 augmented anti-PD-L1 immunotherapy by reinvigorating CD8+ T cells via increasing intratumoral CXCL10.

Profiting from the sustained clinical improvement and prolonged patient survival, immune checkpoint blockade of programmed cell death protein 1 (PD-1)/programmed death-ligand 1 (PD-L1) axis has emerged as a revolutionary cancer therapy approach. However, the anti-PD-1/PD-L1 antibodies only achieve a clinical response rate of approximately 20%. Herein, we identified a novel combination strategy that Chinese medicine ginseng-derived ginsenoside Rh2 (Rh2) markedly improved the anti-cancer efficacy of anti-PD-L1 antibody in mice bearing MC38 tumor. Rh2 combined with anti-PD-L1 antibody (combo treatment) further triggered the infiltration, proliferation and activation of CD8+ T cells in the tumor microenvironment (TME). Depletion of CD8+ T cells by mouse CD8 blocking antibody abolished the anti-cancer effect of combo treatment totally. Mechanistically, combo treatment further increased the expression of CXCL10 through activating TBK1-IRF3 signaling pathway, explaining the increased infiltration of T cells. Employing anti- CXC chemokine receptor 3 (CXCR3) blocking antibody prevented the T cells infiltration and abolished the anti-cancer effect of combo treatment. Meanwhile, combo treatment increased the percentage of M1-like macrophages and raised the ratio of M1/M2 macrophages in TME. By comparing the anti-cancer effect of combo treatment among MC38, CT26 and 4T1 tumors, resident T cells were considered as a prerequisite for the effectiveness of combo treatment. These findings demonstrated that Rh2 potentiated the anti-cancer effect of PD-L1 blockade via promoting the T cells infiltration and activation, which shed a new light on the combination strategy to enhance anti-PD-L1 immunotherapy by using natural product Rh2.

Identification of a novel therapeutic target for lung cancer: Mitochondrial ribosome protein L9.

Lung cancer has a high fatality rate and incidence rate. At present, the initial and progress mechanism of lung cancer has not been completely elucidated and new therapeutic targets still need to be developed. In this study, the screening process was based on lung cancer expression profile data and survival analysis. Mitochondrial ribosome protein L9 (MRPL9) was upregulated in lung cancer tissues and related to the poor overall survival rate and recurrence-free survival rate of lung cancer patients. Knockdown of MRPL9 inhibited the proliferation, sphere-formation, and migration ability of lung cancer cells. MRPL9 was associated with the c-MYC signaling pathway, and lung cancer patients with high expression of both MRPL9 and MYC had a poor prognosis. Furthermore, c-MYC was associated with the epithelial-mesenchymal transition (EMT) regulatory protein zinc finger E-box binding homeobox 1 (ZEB1) by bioinformatics analysis. The relationship between ZEB1 and c-MYC was further confirmed by interfering with c-MYC expression. MRPL9 is a potential therapeutic target for lung cancer and exerts its biological functions by affecting the transcription factor c-MYC thereby regulating the EMT regulator ZEB1.

LncRNA modulates Hippo-YAP signaling to reprogram iron metabolism.

Iron metabolism dysregulation is tightly associated with cancer development. But the underlying mechanisms remain poorly understood. Increasing evidence has shown that long noncoding RNAs (lncRNAs) participate in various metabolic processes via integrating signaling pathway. In this study, we revealed one iron-triggered lncRNA, one target of YAP, LncRIM (LncRNA Related to Iron Metabolism, also named ZBED5-AS1 and Loc729013), which effectively links the Hippo pathway to iron metabolism and is largely independent on IRP2. Mechanically, LncRIM directly binds NF2 to inhibit NF2-LATS1 interaction, which causes YAP activation and increases intracellular iron level via DMT1 and TFR1. Additionally, LncRIM-NF2 axis mediates cellular iron metabolism dependent on the Hippo pathway. Clinically, high expression of LncRIM correlates with poor patient survival, suggesting its potential use as a biomarker and therapeutic target. Taken together, our study demonstrated a novel mechanism in which LncRIM-NF2 axis facilitates iron-mediated feedback loop to hyperactivate YAP and promote breast cancer development.

Comparison of anthropometric parameters and laboratory test results before and after the COVID-19 outbreak among Chinese children aged 3-18 years.

Objective: To compare the physiological health of Chinese children around the COVID-19 lockdown. Methods: We extracted data on children's anthropometric and laboratory parameters from May to November in both 2019 and 2020 from the Health Checkup Center, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China. Overall, 2162 children aged 3~18 years without comorbidities in 2019 and 2646 in 2020 were assessed. Mann Whitney U tests were used to compare differences between the above health indicators before and after COVID-19 outbreak. Quantile regression analyses adjusted for age, sex and body mass index (BMI) were also used in analysis. Chi-square tests and Fisher's exact tests were used for comparing differences of categorical variables. Results: Compared with children examined in 2019 before the outbreak, children in 2020 had a higher median z score of BMI for age (-0.16 vs. -0.31), total cholesterol (TC, 4.34 vs. 4.16 mmol/L), low density lipoprotein cholesterol (LDL-C, 2.48 vs. 2.15 mmol/L), high density lipoprotein cholesterol (HDL-C, 1.45 vs. 1.43 mmol/L) and serum uric acid (290 vs. 282 µmol/L), and a lower hemoglobin (Hb, 134 vs. 133 g/L), triglycerides (TG, 0.70 vs. 0.78 mmol/L) and 25(OH)D (45.8 vs. 52.2 nmol/L), all P < 0.05. No differences were identified for waist height ratio, blood pressure and fasting glucose (both P > 0.05). However, in regression models after adjusting, BMI, TC, LDL-C, blood glucose and sUA were positively correlated with year; while Hb, TG and 25(OH)D were negatively correlated with year (all P < 0.05). Accordingly, children in 2020 had a higher prevalence of overweight/obesity (20.6 vs. 16.7%, P < 0.001), hypercholesterol (16.2%vs. 10.2%, P < 0.001), high LDL-C (10 vs. 2.9%, P < 0.001), hyperuricemia (18.9 vs.15.1%, P = 0.002), vitamin D deficiency (22.6 vs. 8.1%, P < 0.001) and a lower prevalence of high TG (4.3 vs. 2.8%, P = 0.018) compared with children in 2019. Conclusion: In this real-world study, we found that long-term lockdown due to COVID-19 outbreak might cause adverse impact on children's metabolic health, which might increase their future risk of cardiovascular diseases. Thus, parents, health professionals, educationists, and caregivers should pay more attention to children's dietary pattern and lifestyle, especially in this new normal against COVID-19.

A phosphatidic acid-binding lncRNA SNHG9 facilitates LATS1 liquid-liquid phase separation to promote oncogenic YAP signaling.

Long noncoding RNAs (lncRNAs) are emerging as a new class of important regulators of signal transduction in tissue homeostasis and cancer development. Liquid-liquid phase separation (LLPS) occurs in a wide range of biological processes, while its role in signal transduction remains largely undeciphered. In this study, we uncovered a lipid-associated lncRNA, small nucleolar RNA host gene 9 (SNHG9) as a tumor-promoting lncRNA driving liquid droplet formation of Large Tumor Suppressor Kinase 1 (LATS1) and inhibiting the Hippo pathway. Mechanistically, SNHG9 and its associated phosphatidic acids (PA) interact with the C-terminal domain of LATS1, promoting LATS1 phase separation and inhibiting LATS1-mediated YAP phosphorylation. Loss of SNHG9 suppresses xenograft breast tumor growth. Clinically, expression of SNHG9 positively correlates with YAP activity and breast cancer progression. Taken together, our results uncover a novel regulatory role of a tumor-promoting lncRNA (i.e., SNHG9) in signal transduction and cancer development by facilitating the LLPS of a signaling kinase (i.e., LATS1).

Complement C1q (C1qA, C1qB, and C1qC) May Be a Potential Prognostic Factor and an Index of Tumor Microenvironment Remodeling in Osteosarcoma.

The tumor microenvironment (TME) has important effects on the tumorigenesis and development of osteosarcoma (OS). However, the dynamic mechanism regulating TME immune and matrix components remains unclear. In this study, we collected quantitative data on the gene expression of 88 OS samples from The Cancer Genome Atlas (TCGA) database and downloaded relevant clinical cases of OS from the TARGET database. The proportions of tumor-infiltrating immune cells (TICs) and the numbers of immune and matrix components were determined by CIBERSORT and ESTIMATE calculation methods. Protein-protein interaction (PPI) network construction and Cox regression analysis were conducted to analyze differentially expressed genes (DEGs). The complement components C1qA, C1qB and C1qC were then determined to be predictive factors through univariate Cox analysis and PPI cross analysis. Further analysis found that the levels of C1qA, C1qB and C1qC expression were positively linked to OS patient survival time and negatively correlated with the clinicopathological feature percent necrosis at definitive surgery. The results of gene set enrichment analysis (GSEA) demonstrated that genes related to immune functions were significantly enriched in the high C1qA, C1qB and C1qC expression groups. Proportion analysis of TICs by CIBERSORT showed that the levels of C1qA, C1qB and C1qC expression were positively related to M1 and M2 macrophages and CD8+ cells and negatively correlated with M0 macrophages. These results further support the influence of the levels of C1qA, C1qB and C1qC expression on the immune activity of the TME. Therefore, C1qA, C1qB and C1qC may be potential indicators of remodeling in the OS TME, which is helpful to predict the prognosis of patients with OS and provide new ideas for immunotherapy for OS.

The pH-Responsive Transcription Factors YlRim101 and Mhy1 Regulate Alkaline pH-Induced Filamentation in the Dimorphic Yeast Yarrowia lipolytica.

Environmental pH influences cell growth and differentiation. In the dimorphic yeast Yarrowia lipolytica, neutral-alkaline pH strongly induces the yeast-to-filament transition. However, the regulatory mechanism that governs alkaline pH-induced filamentation has been unclear. Here, we show that the pH-responsive transcription factor Y. lipolytica Rim101 (YlRim101) is a major regulator of alkaline-induced filamentation, since the deletion of YlRIM101 severely impaired filamentation at alkaline pH, whereas the constitutively active YlRIM1011-330 mutant mildly induced filamentation at acidic pH. YlRim101 controls the expression of the majority of alkaline-regulated cell wall protein genes. One of these, the cell surface glycosidase gene YlPHR1, plays a critical role in growth, cell wall function, and filamentation at alkaline pH. This finding suggests that YlRim101 promotes filamentation at alkaline pH via controlling the expression of these genes. We also show that, in addition to YlRim101, the Msn2/Msn4-like transcription factor Mhy1 is highly upregulated at alkaline pH and is essential for filamentation. However, unlike YlRim101, which specifically regulates alkaline-induced filamentation, Mhy1 regulates both alkaline- and glucose-induced filamentation, since the deletion of MHY1 abolished them both, whereas the overexpression of MHY1 induced strong filamentation irrespective of the pH or the presence of glucose. Finally, we show that YlRim101 and Mhy1 positively coregulate seven cell wall protein genes at alkaline pH, including YlPHR1 and five cell surface adhesin-like genes, three of which appear to promote filamentation. Together, these results reveal a conserved role of YlRim101 and a novel role of Mhy1 in the regulation of alkaline-induced filamentation in Y. lipolyticaIMPORTANCE The regulatory mechanism that governs pH-regulated filamentation is not clear in dimorphic fungi except in Candida albicans Here, we investigated the regulation of alkaline pH-induced filamentation in Yarrowia lipolytica, a dimorphic yeast distantly related to C. albicans Our results show that the transcription factor YlRim101 and the Msn2/Msn4-like transcription factor Mhy1 are the major regulators that promote filamentation at alkaline pH. They control the expression of a number of cell wall protein genes important for cell wall organization and filamentation. Our results suggest that the Rim101/PacC homologs play a conserved role in pH-regulated filamentation in dimorphic fungi.

[Performance of Anaerobic Membrane Bioreactors for the Co-digestion of Sewage Sludge and Food Waste].

A laboratory-scale anaerobic membrane bioreactor (AnMBR) was used for the co-digestion of sewage sludge and food waste to investigate its organic matter removal characteristics, biogas production performance, and microbial community composition. The results showed that the degradation rate of volatile solids (VS) increased from 17.5% for a single digestion to 40% for the total digestion, and that the COD removal was 95.3% when the organic loading rate (OLR) was stabilized at 0.59-0.64 kg·(m3·d)-1. The solids content of the digested sludge increased by a factor of 3.9. The final CH4 content was 60% and the CH4 yield was 78.7 mL·g-1 of CODadded. The transmembrane pressure (TMP) and average flux were maintained at between -3.1 and -2.7 kPa and 0.106 L·(m2·h)-1, respectively, and membrane fouling was not serious. According to an analysis of the microbial diversity using 16S rRNA, the anaerobic bacterium in the AnMBR were mainly phylum Proteobacteria, Bacteroidetes, and Cloacimonetes, and the dominant methanogens included the Methanobacterium family, Methanosaeta genus, and Methanolinea genus. This study provides a strong theoretical basis for research into the stability and performance of AnMBRs for the co-treatment of sludge and other high-solid waste streams, and provided an effective solution for biomass resource utilization and the energy crisis.

[Dynamics of Epilithic Algae Communities and Their Relationship with Environmental Factors During Storage and Non-storage Periods in the Three Gorges Reservoir].

In order to explore the composition of epiphytic algae and its related environmental factors, 12 sampling sites in the natural reaches and the backwater reaches (including perennial backwater sections and fluctuating backwater sections) were investigated among tributaries of the Caotang River, the Meixi River, and the Daxi River in the Fengjie district of the Chongqing section of the Three Gorges Reservoir under different hydrological regimes (i.e., storage and non-storage periods). Results showed that 103 species of epilithic algae belonging to 45 genera and 4 families are found in the 3 tributaries. This included 67 species belonging to 34 genus in the natural sections and 82 species (64 species in perennial backwater sections and 41 species in fluctuating backwater sections) belonging to 34 genera in the backwater sections. During the storage period, the dominant species in the natural sections were Melosira varians, Cocconeis placentula, Diatoma vulgure, Gyrosigma scalproides, and Oscillatoria tenuis, while the dominant species in the backwater sections were M. varians, Cymbella affinis,D. vulgure, Eucapsis alpina, and M. granulata. During the non-storage period, the dominant species in the natural sections were M. varians, C. affinis, and C. placentula, whereas the dominant species in the backwater sections were O. princeps, O. rupicola,O. formosa, Synedra acus, Ulothrix sp., Merismopedia elegans, and O. tenuis. These results suggested that the compositions of dominant species showed significant differences during the non-storage period, while little difference was found during the storage period. In addition, the dominant species did not show a significant change in the natural sections, but a marked difference was observed in the backwater sections. Similar dominant species were observed in both perennial and fluctuating backwater sections during the non-storage period, but significantly different dominant species were found during the storage period. Redundancy analysis suggested that the composition of epilithic algae was influenced by different environmental factors, such as temperature, electrical conductivity, pH, total nitrogen, and total phosphorus. Indeed, changes in the cell densities of dominant algae at the different sites were mainly affected by temperature and the concentrations of nitrogen and phosphorus. These results suggest that the different hydrological regimes had an important role not only on the reservoir water environment, but also the dynamics of epilithic algal communities.

[Benthic Diatom Communities in the Main Stream of Three Gorges Reservoir Area and Its Relationship with Environmental Factors].

In order to study changes in benthic diatom communities and their relationships with environmental factors during different hydrological periods, 32 sites were sampled in the main stream of the Three Gorges Reservoir during the non-storage period (July 2015 to September 2015) and the storage period (December 2015 to March 2016). Results showed that there were significant differences in water temperature (WT), underwater light intensity (PAR), pH, conductivity (Spc), dissolved oxygen (DO), redox potential (ORP), turbidity (Tur), transparency (SD), flow rate (v), and permanganate index between the storage and non-storage periods. Ninety-six species of benthic diatoms, belonging to 28 genera, were identified during the two hydrological periods. Thirteen dominant species and three dominant species were identified during the non-storage period and the storage period, respectively, suggesting that some differences existed in the composition and distribution of dominant species between the two periods. However, Melosira varians, an α-polluting and eutrophic species, was dominant during both of the hydrological periods. Redundancy analysis (RDA) found that pH, flow rate, and orthophosphate (PO43--P) were the main environmental factors affecting the composition of benthic diatom communities, and a significant difference was found between up- and down-stream areas during the non-storage period. In comparison, water temperature, turbidity, permanganate index, and dissolved oxygen (DO) were the main environmental factors influencing the patterns of benthic diatoms communities, for which an insignificant difference was observed between up- and down-stream areas during the storage period. These results suggest that water storage in the Three Gorges Reservoir has an important impact on the composition of benthic diatom communities, and that this results in a change in community structure.

Parallel gene selection and dynamic ensemble pruning based on Affinity Propagation.

Gene selection and sample classification based on gene expression data are important research areas in bioinformatics. Selecting important genes closely related to classification is a challenging task due to high dimensionality and small sample size of microarray data. Extended rough set based on neighborhood has been successfully applied to gene selection, as it can select attributes without redundancy and deal with numerical attributes directly. However, the computation of approximations in rough set is extremely time consuming. In this paper, in order to accelerate the process of gene selection, a parallel computation method is proposed to calculate approximations of intersection neighborhood rough set. Furthermore, a novel dynamic ensemble pruning approach based on Affinity Propagation clustering and dynamic pruning framework is proposed to reduce memory usage and computational cost. Experimental results on three Arabidopsis thaliana biotic and abiotic stress response datasets demonstrate that the proposed method can obtain better classification performance than ensemble method with gene pre-selection.

Spatial signalling mediated by the transforming growth factor-ß signalling pathway during tooth formation.

Tooth development relies on sequential and reciprocal interactions between the epithelial and mesenchymal tissues, and it is continuously regulated by a variety of conserved and specific temporal-spatial signalling pathways. It is well known that suspensions of tooth germ cells can form tooth-like structures after losing the positional information provided by the epithelial and mesenchymal tissues. However, the particular stage in which the tooth germ cells start to form tooth-like structures after losing their positional information remains unclear. In this study, we investigated the reassociation of tooth germ cells suspension from different morphological stages during tooth development and the phosphorylation of Smad2/3 in this process. Four tooth morphological stages were designed in this study. The results showed that tooth germ cells formed odontogenic tissue at embryonic day (E) 14.5, which is referred to as the cap stage, and they formed tooth-like structures at E16.5, which is referred to as the early bell stage, and E18.5, which is referred to as the late bell stage. Moreover, the transforming growth factor-ß signalling pathway might play a role in this process.

The effect of microbial sulfidogenesis on the stability of As-Fe coprecipitate with low Fe/As molar ratio under anaerobic conditions.

The effect of microbial sulfidogenesis on As transformation and mobilization in solid phase with low Fe/As ratio is still not well known. In this study, microbial transformation and mobilization of As in the As-Fe coprecipitate with different sulfate levels were investigated using chemical extraction and K-edge XANES of As and S. Results showed that approximately 2.7, 24.4, and 83.7 % of total As were released into the aqueous phase in the low-, mid-, and high-sulfate treatments, respectively, indicating that the presence of large amounts of sulfate could enhance microbial arsenic mobilization in the As-Fe coprecipitate. In the low-sulfate treatment, As mobilization was primarily attributed to the reductive dissolution of the Fe (oxy)hydroxides and the As reduction and desorption. In the mid- and high-sulfate treatments, the reduction of arsenate and ferric iron was significantly enhanced. Complete ferric iron reduction was observed in the solid phase, implying that Fe (oxy)hydroxide was transformed to secondary minerals and may be the one of the primary causes for the enhanced As mobilization. Thermodynamic calculations predicted the formation of thioarsenite species after 35 days of incubation based on the concentration of dissolved As(III) and S(-II). Since thioarsenic species is more mobile, its formation may be one of the most important factors enhancing the As release in the high-sulfate system. The result of this study is of significance to completely predict the environmental behavior of As associated with Fe (hydr)oxides in the presence of microbial sulfidogenesis under anoxic conditions.

Interstitial deletion 5q14.3q21.3 associated with lethal epilepsy.

The 5q14.3 deletion syndrome is a heterogeneous disorder with remarkable phenotypic diversity ranging from severe to mild manifestation. In this paper, we report on a patient with 5q14.3 q21.3 deletion who exhibited the severe phenotype and died at 5.5 months. This patient can be classified as having sudden unexplained death in epilepsy (SUDEP) [Tomson et al., 2008]. The deleted region (21.02 Mb, Chr.5: 88, 047, 621-109,072,596 × 1 dn), which included MEF2C and EFNA5, was a 16.5 Mb sequence that overlapped with previously reported deletions in a patient with the mild phenotype. This study further demonstrated the complexity of clinical cytogenetic correlation of the 5q14.3 deletion.

A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.

Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused by KIT gene. The key characteristics of piebaldism include localized poliosis, congenital leukoderma, and other variable manifestations. The previous study has illustrated that the homogeneous MC1R (a gene which is associated with the hair color) variant (p.I120T) coordinating with KIT mutation may lead to auburn hair color and piebaldism. In this study, we have investigated a Chinese family with piebaldism and auburn hair color; the mutation screening of KIT and MC1R genes identified that only a splicing mutation (c. 2484+1G>A) of KIT gene cosegregated with the auburn hair color and piebaldism. The data of this study and others suggests that the KIT mutation may causes of the auburn hair color in the piebaldism patients.

First report of HGD mutations in a Chinese with alkaptonuria.

Alkaptonuria (AKU) is one of the first prototypic inborn errors in metabolism and the first human disease found to be transmitted via Mendelian autosomal recessive inheritance. It is caused by HGD mutations, which leads to a deficiency in homogentisate 1,2-dioxygenase (HGD) activity. To date, several HGD mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However, in Asia, the HGD mutation is very rarely reported. For the Chinese population, no literature on HGD mutation screening is available to date. In this paper, we describe two novel HGD mutations in a Chinese AKU family, the splicing mutation of IVS7+1G>C, a donor splice site of exon 7, and a missense mutation of F329C in exon 12. The predicted new splicing site of the mutated exon 7 sequence demonstrated a 303bp extension after the mutation site. The F329C mutation most probably disturbed the stability of the conformation of the two loops critical to the Fe(2+) active site of the HGD enzyme.

[Analysis of ring chromosome 9 syndrome with fluorescence in situ hybridization].

OBJECTIVE: To investigate the mechanism of the ring chromosome 9 formation by cytogenetic analysis of one case affected with ring chromosome 9 syndrome. METHODS: Routine chromosome GTG-binding analysis and dual-color fluorescence in situ hybridization (FISH) with TelVision 9p and 9q probes were applied to characterize the case. RESULTS: The G-binding revealed that the patient had ring chromosome 9 with the following karyotype: 45,X,-9/46,XX,r(9)(p24q34)/46,XX,r(9;9)(p24q34;p24q34)[4/92/4]. The dual-color FISH analysis with TelVision 9p and TelVision 9q probes failed to detect a hybridization signal on the ring chromosome in the case, which indicated that at least 115 kb were deleted on the terminal 9p and 95 kb were deleted on the terminal 9q. Comparing to the cases reported in the literatures, our patient shared some common features of the 9p- and 9q- syndrome. CONCLUSION: The clinical features of patients with identical r(9) breakpoints present variable phenotypes. The possible cause might be the submicroscopic variation in the deletion breakpoints, variation in the ring stability, the modification of the expression of the deleted by the individual's genetic background, or the effect of changes in the fetal environment. The haploinsufficiency of genes located in the deleted regions may play critical roles in the patient phenotype as well.

[Analysis of the small supernumerary marker chromosome in Turner syndrome with 45, X/46, X, + mar karyotype].

OBJECTIVE: To identify the origin and study the morphology of small supernumerary marker chromosome (sSMC) in Turner syndrome with 45, X/46, X, + mar karyotype. METHODS: Using the conventional chromosome G-banding technique, 10 cases of Turner syndrome with 45, X/46, X, + mar chromosome karyotype were obtained, dual-color fluorescence in situ hybridization was applied to study the origin and morphology of the sSMC. RESULTS: In the 10 cases of Turner syndrome with 45, X/46, X, + mar karyotype, the sSMC of 7 cases was derived from X chromosome [sSMC(X)], the sSMC of 2 cases was derived from Y chromosome [sSMC(Y)] and the remaining 1 case was derived from the autosome. There were 4 cases of ring(r) chromosomes and 3 of centric minutes (min) in the 7 sSMC (X) cases. In the 2 sSMC(Y), one case was dicentric (dic) and the other was centric minute (min). The sSMC originated from the autosome was a centric minute (min). CONCLUSION: The origin of sSMC of Turner syndrome with 45, X/46, X, + mar karyotype was almost all from sex chromosomes, and rarely from autosomes. sSMC can exist as isodicentric, ring, or centric minute. The molecular cytogenetic features of the sSMC can provide useful information for genetic counseling, prenatal diagnosis and treatment of the Turner syndrome patients with a 45, X/46, X, + mar karyotype.