Paenibacillus oceani sp. nov., isolated from surface seawater.

A Gram-stain-positive and motile bacterial strain, designated IB182363T, was isolated from surface seawater of the South China Sea. Cells grew at pH 5.0-9.5 (optimum, pH 7.0-8.0), 20-40 °C (optimum, 30 °C) and with 1-8 % (w/v) NaCl (optimum, 2-4 %). On the basis of 16S rRNA gene sequence analysis, strain IB182363T was affiliated to the genus Paenibacillus and the closest phylogenetically related species was Paenibacillus ginsengarvi DSM18677T with 96.9 % sequence similarity. The values of whole genome average nucleotide identity analysis and digital DNA-DNA hybridization between the isolate and the closely related type strains were less than 86.3 and 25.6 %, respectively. Chemotaxonomic analysis revealed that strain IB182363T possessed meso-diaminopimelic acid in the cell-wall peptidoglycan and contained menaquinone MK-7 as the predominant isoprenoid quinone. The major cellular fatty acids were anteiso-C15 : 0, C16 : 0 and iso-C16 : 0. The polar lipids comprised phosphatidylethanolamine, phosphatidylglycerol, diphosphatidylglycerol, one unidentified glycolipid, two unidentified aminolipids, two unidentified phospholipids and four unidentified aminophospholipids. The genomic DNA G+C content was 54.5 mol%. On the basis of the above results, strain IB182363T represents a novel species of the genus Paenibacillus, for which we propose the name Paenibacillus oceani sp. nov. with the type strain IB182363T (=MCCC 1K04630T=JCM 34214T).

[Quality evaluation of Bolbostemmatis Rhizoma by UPLC fingerprint combined with QAMS].

The present study was performed to establish the UPLC fingerprints of Bolbostemmatis Rhizoma and determine the contents of three saponins by quantitative analysis of multi-components by single marker(QAMS), and provide basis for quality evaluation of Bolbostemmatis Rhizoma. The analysis was carried out on an analytical column of Waters Cortecs T3(2.1 mm×100 mm,1.6 µm)with gradient elution by acetonitrile-0.1% phosphoric acid solution, at a flow rate of 0.3 mL·min~(-1). The detection wavelength was 203 nm, the column temperature was 30 ℃ and the injection volume was 1 µL. The UPLC fingerprints of Bolbostemmatis Rhizoma were established and evaluated by similarity calculation, cluster analysis and principal component analysis. The relative calibration factors of toberoside B and toberoside C were determined with toberoside A as internal reference. The content was calculated by relative calibration factors to develop a method of QAMS. Comparing the results of QAMS with those of ESM, the accuracy and feasibility of one-eva-luation and multi-evaluation can be determined. RESULTS:: showed that the fingerprints of 19 batches of Bolbostemmatis Rhizoma have four common peaks with similarities ranging from 0.754 to 1.000. Cluster analysis and principal component analysis classified 19 batches of Bolbostemmatis Rhizoma into three categories, which was consistent with the similarity evaluation results. The relative deviation between the content of tubeicosides B and C in 19 batches of Bolbostemmatis Rhizoma determined by QAMS and ESM is less than 5.0%, indicating that there was no significant difference between the two methods. Therefore, the UPLC fingerprints combined with QAMS and similarity evaluation can be effectively used to evaluate the quality of Bolbostemmatis Rhizoma.

Thioredoxin H (TrxH) contributes to adversity adaptation and pathogenicity of Edwardsiella piscicida.

Thioredoxins (Trxs) play an important role in defending against oxidative stress and keeping disulfide bonding correct to maintain protein function. Edwardsiella piscicida, a severe fish pathogen, has been shown to encode several thioredoxins including TrxA, TrxC, and TrxH, but their biological roles remain unknown. In this study, we characterized TrxH of E. piscicida (named TrxHEp) and examined its expression and function. TrxHEp is composed of 125 residues and possesses typical thioredoxin H motifs. Expression of trxHEp was upregulated under conditions of oxidative stress, iron starvation, low pH, and during infection of host cells. trxHEp expression was also regulated by ferric uptake regulator (Fur), an important global regulatory of E. piscicida. Compared to the wild type TX01, a markerless trxHEp in-frame mutant strain TX01∆trxH exhibited markedly compromised tolerance of the pathogen to hydrogen peroxide, acid stress, and iron deficiency. Deletion of trxHEp significantly retarded bacterial biofilm growth and decreased resistance against serum killing. Pathogenicity analysis shows that the inactivation of trxHEp significantly impaired the ability of E. piscicida to invade host cells, reproduce in macrophages, and infect host tissues. Introduction of a trans-expressed trxH gene restored the lost virulence of TX01∆trxH. There is likely to be a complex relationship of functional complementation or expression regulation between TrxH and another two thioredoxins, TrxA and TrxC, of E. piscicida. This is the first functional report of TrxH in fish pathogens, and the findings suggest that TrxHEp is essential for coping with adverse circumstances and contributes to host infection of E. piscicida.

[Multi-component quantitation of artificial cow-bezoar and study on its markers of quality difference].

An HPLC-ELSD method for quantitation of GCANa, CA, HDCA, CDCA and DCA in artificial cow-bezoar was developed in this study. The chromatographic separation was performed using a Wondasil CC18(4.6 mmχ250 mm，5 µm) column at a column temperature of 25 °C and liquid flow-rate of 1.0 mL·min⁻¹. Acetonitrile and 0.2% formic acid solution were used as mobile phase with a linear gradient and injection volume was 10 µL. An ELSD was used with a nitrogen flow-rate of 2.3 L·h⁻¹at a drift tube temperature of 110 °C. Some chemometric methods were applied in data procession and analysis for exploration of the markers of quality difference. The accurate and simple method is suitable for the quality evaluation and the quality control of artificial cow-bezoar.

[The analysis of multivariate image and chemometrics in TLC fingerprinting of artificial cow-bezoar].

A method of thin-layer fingerprinting chromatogram of artificial cow-bezoar was established with the developing solvent consisting of cyclohexane, ethyl acetate, acetic acid and methanol (2∶7∶1∶2), and 10% sulfuric acid ethanol solution sprayed as colour-developing agent. After heated at 105 ℃, TLC was recorded as an image in ultraviolet light at 366 nm which was converted into grayscale. By the gray value extracted from the grayscale, the multivariate data obtained from TLC of samples could be analyzed by chemometric method. The results indicated that samples from different manufacturers could be distinguished by this method and some specific bands were found out. All in one, this simple and practical method was suitable for the evaluation of quality difference.

[Protective effects and underlying mechanisms of Panax notoginseng saponins against SH-SY5Y cell apoptosis induced by 6-hydroxydopamine].

The aim of this study is to investigate the protective effects of Panax notoginseng saponins (PNS) against 6-hydroxydopamine(6-OHDA)-induced apoptosis in SH-SY5Y cells and the possible underlying mechanisms. Cell viability was examined by MTT assay. The levels of lactate dehydrogenase(LDH), reactive oxygen species (ROS), malondialdehyde (MDA) and the activities of superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase(GSH-Px) were measured using the respective assay kits. Apoptosis was measured by TUNEL kit, JC-1 and ROS was measured by staining with fluorescent dyes. The activation of caspase-3 was measured with the caspase-3 assay kit. The expression of nuclear protein Nrf2 and HO-1 were determined by Western blot. PNS had significant protective effects against 6-OHDA-induced apoptosis in SH-SY5Y cells in a time- and dose-dependent manner. PNS could attenuate 6-OHDA-induced suppression of SOD, GAT, GSH-Px (P < 0.01). PNS reduced the level of LDH, decreased the levels of ROS, MDA and increased cell viability and the mitochondrial membrane potential (P < 0.01). PNS also inhibited DNA fragmentation, mitochondrial response and the activation of caspase-3 (P < 0.01). Moreover, PNS pretreatment increased the expression of the nuclear Nrf2 and up-regulate HO-1. The protective effects of PNS could be inhibited by HO-1 inhibitor SnPP. In conclusion, PNS has significant protective effects against 6-OHDA- induced apoptosis in SH-SY5Y cells. The possible mechanisms of PNS are due to PNS-mediated activation of Nrf2, up-regulation of HO-1 and inhibition of oxidative stress.

Mutational spectrum of phenylketonuria in Jiangsu province.

UNLABELLED: Phenylketonuria (PKU) is caused by variants in the phenylalanine hydroxylase (PAH) gene. We systematically investigated all 13 exons of the PAH gene and their flanking introns in 31 unrelated patients and their parents using next-generation sequencing (NGS). A total of 33 different variants were identified in 58 of 62 mutant PAH alleles. The prevalent variants with a relative frequency of 5 % or more were c.721C > T, c.1068C > A, c.611A > G, c.1197A > T, c.728G > A, c.331C > T, and c.442-1G > A. One novel variant was identified in this study-c.699C > G. We studied genotype-phenotype correlations using the Guldberg arbitrary value (AV) system, which revealed a consistency rate of 38 % (8/21) among the 21 predicted phenotypes. The genotype-based prediction of BH4 responsiveness was also evaluated, and 14 patients (45.2 %) were predicted to be BH4 responsive. CONCLUSION: This study presents the spectrum of PAH variants in Jiangsu province. The information obtained from the genotype-based prediction of BH4 responsiveness might be used for the rational selection of candidates for BH4 testing. WHAT IS KNOWN: • Phenylketonuria (PKU) is caused by variants in the phenylalanine hydroxylase (PAH) gene. • The spectrum of PAH variants in different Chinese populations has been reported. What is new: • This is the first report on the spectrum of PAH variants in Jiangsu province. • This study identified one novel PAH variant-c.699C>G-and and tries to show a genotype-phenotype relationship also regarding BH4-responsiveness.

[Formulation Optimization of Zuojin Floating-Bioadhesive Pellets by Central Composite Design-Response Surface Methodology].

OBJECTIVE: To optimize the formulation of Zuojin floating-bioadhesive pellets by the central composite design-response surface methodology (CCD-RSM). METHODS: In the formulation design using CCD-RSM, independent variables were the amounts of sodium bicarbonate (X1), HPMC (X2) and MCC (X3) as factors. Small pills roundness, 12 h floating rate and the percentages of in vitro cumulative releases at 2,6 and 12 h were dependent variables. Multilinear and quadratic model were used to estimate the relationship between the dependent and the independent variables. According to best model, the contour plots and RSM were drawn, and the optional formulation was selected. According to the optional formulation,the pellets were prepared and validated. RESULTS: The quadratic was the best fitting mode. Small pills roundness was 15.04 °. 12 h floating rate was 75.07%. Percentages of in vitro cumulation release at 2,6 and 12 h of the option formulation pellets was 27.01%, 70.00% and 84.61%, respectively. The actual value was close to the predicted value. Deviation was less than 5%. CONCLUSION: Quadratic model was preferred in the optimization of formulation due to the statistical confidence. The multi-objective simultaneous optimization of Zuojin floating pellet formulation can be achieved by the central composite design-response surface methodology.

[Establishing quantitative model of naringin in citrus Grandis Exocarpium by near infrared spectroscopy].

OBJECTIVE: To establish the quantitative model of naringin in Citrus Grandis Exocarpium by near infrared reflectance spectroscopy(NIRS). METHODS: NIRSs of 54 Citrus Grandis Exocarpium samples were collected and pretreated by TQ Analyst 8.0 software with first derivative + Norris filter. The wavebands in 10,000-4000 cm(-1) were collected and 9 numbers of factors were used. The calibration model was built with partial least squares (PLS). RESULTS: The quantitative calibration model had good correlation coefficients (r = 0.9927) and low root mean square error of calibration (RMSEC = 0.0746). Root mean square error of prediction (RMSEP) was 0.282. The average rate of recovery of validation was 101.65% (n = 9). CONCLUSION: The quantitative calibration model is trustworthy and it can be used to predict naringin in Citrus Grandis Exocarpium accurately. This simple, fast and non-destructive advantages of NIRS can be used for quality control and exploitation of Citrus Grandis Exocarpium.

Maize membrane-bound transcription factor Zmbzip17 is a key regulator in the cross-talk of ER quality control and ABA signaling.

Abiotic stresses disrupt protein folding and induce endoplasmic reticulum (ER) stress, which in turn activates the unfolded protein response (UPR) to aid in the refolding or degradation of misfolded proteins. The phytohormone ABA regulates many aspects of plant development and plays a central role in the stress response; however, the role of ABA in transducing stress signals to activate the UPR has not been recognized. In this study, a gene encoding the maize ortholog of AtbZIP17, a transmembrane transcription factor functioning as an ER stress transducer, was identified from the MaizeGDB database, and designated ZmbZIP17. ZmbZIP17 was induced by both ABA and ER stress-eliciting agents such as dithiotreitol (DTT) and tunicamycin (TM). Transiently expressed yellow fluorescent protein (YFP)-ZmbZIP17 co-localized with the ER marker HDEL-mCherry under control conditions, but partially translocated into the nucleus upon TM treatment or removal of the transmembrane domain. TM-induced processing of ZmbZIP17 was confirmed by Western blot analysis. When overexpressed in Arabidopsis, ZmbZIP17 triggered ER stress response gene expression and tolerance to DTT and TM, elevated ABA-responsive gene expression and ABA sensitivity both pre- and post-germination. Additionally, ABA was found to induce ER stress response gene expression, alone or synergistically with ZmbZIP17, in the absence of DTT or TM; while ZmbZIP17 was capable of interacting with ABA-responsive cis-elements (ABREs) that exist in promoters of known ABA-responsive genes. Together, our results reveal a direct link between ER stress and ABA signaling pathways involving the ZmbZIP17 transcription factor.

A Novel Strategy for Screening Active Components in Cistanche tubulosa Based on Spectrum-Effect Relationship Analysis and Network Pharmacology.

Cistanche tubulosa (Schenk) R. Wight is a valuable herbal medicine in China. The study aimed to explore the potential mechanisms of C. tubulosa on antioxidant activity using spectrum-effect relationship and network pharmacology and the possibilities of utilizing herbal dregs. In this work, different extracts of C. tubulosa, including herbal materials, water extracts, and herbal residues, were evaluated using high-performance liquid chromatography (HPLC) technology. In addition, the antioxidant activities were estimated in vitro, including 2, 2-diphenyl-1-picrylhydrazyl; superoxide anion; and hydroxyl radical scavenging assays. The spectrum-effect relationships between the HPLC fingerprints and the biological capabilities were analyzed via partial least squares regression, bivariate correlation analysis, and redundancy analysis. Furthermore, network pharmacology was used to predict potential mechanisms of C. tubulosa in the treatment of antioxidant-related diseases. According to the results, eleven common peaks were shared by different extracts. Geniposidic acid, echinacoside, verbascoside, tubuloside A, and isoacteoside were quantified and compared among different forms of C. tubulosa. The spectrum-effect relationship study indicated that peak A 6 might be the most decisive component among the three forms. Based on network pharmacology, there were 159 target genes shared by active components and antioxidant-related diseases. Targets related to antioxidant activity and relevant pathways were discussed. Our results provide a theoretical basis for recycling the herbal residues and the potential mechanisms of C. tubulosa in the treatment of antioxidant-related diseases.

The localization of the alkaloids in Coptis chinensis rhizome by time-of-flight secondary ion mass spectrometry.

Background: Understanding the spatial distribution of active compounds can effectively evaluate the quality of decoction pieces of traditional Chinese medicine (TCM). Traditional methods are economical and practical but lack chemical information on the original distribution. Time-of-flight secondary ion mass spectrometry (TOF-SIMS), with the advantage of non-destructive detection of samples, can directly analyze the distribution of chemical compounds on the surface of various samples. Methods: In this study, TOF-SIMS image analysis technology was used to detect TCM for the first time. Taking Coptis rhizome (CR) as an example, a commonly used TCM, the distribution of the compounds in the cross-section of CR was studied. Meanwhile, ultra-high-performance liquid chromatography coupled with triple quadrupole mass spectrometry (UPLCQQQ-MS/MS) was used to verify the results of TOF-SIMS. Results: The distribution of nine active compounds: berberine, epiberberine, coptisine, palmatine, columbamine, jatrorrhizine, tetrahydricheilanthifolinium, and oxyberberine, was well imaged in the cross-section of CR by TOF-SIMS. The content of berberine and epiberberine was the highest; Palmatine distribution in the pith was more than that in other parts; Oxyberberine was mainly concentrated in the cork and xylem rays. Normalization analysis showed contents of these compounds increased along with the growth years. The result was consistent with UPLC-QQQ-MS/MS. Conclusion: The TOF-SIMS method can display the spatial distribution status of the active compounds of herbs, providing a basis for selecting the medicine site with non-destructive and fast detection.

Diagnostic and Predictive Values of LAP in Hypertension: A Cross-Sectional Study in Chinese Population Older Than 65 Years.

This study aimed to investigate the predictive value of lipid accumulation product (LAP) in hypertension in Chinese population older than 65 years. A total of 2092 adults from the communities in Pudong New Area of Shanghai were included in this cross-sectional study. The participants filled in questionnaire and received anthropometric and laboratory examinations. The receiver operating characteristics curve (ROC) was used to analyze the predictive value of different risk factors in hypertension. Results showed that LAP was closely related to hypertension (adjusted OR: 1.011, 95% CI: 1.007-1.015). In females, LAP, fasting blood glucose (FPG), and body mass index (BMI) were associated with hypertension; in males, triglycerides (TG) and waist circumference (WC) were related to hypertension. LAP (AUC = 0.655, 95% CI: 0.632-0.679) was better than neck circumference (NC) and BMI in predicting hypertension. When the cutoff value was 33.5, LAP had the best predictive performance. In males, LAP at 36.72 and 56.76 had the best predictive performance in males (AUC = 0.663, 95% CI: 0.629-0.697) and females (AUC = 0.650, 95% CI: 0.618-0.682), respectively. In conclusion, LAP is a risk factor of hypertension in the elderly. For hypertension, BMI, FPG, and LAP have favorable predictive performance in females, and WC and TG have better predictive performance in males.

Establishment of Detection Methods for Five Cannabinoids in Hemp Cosmetics Based on HPLC.

A simultaneously HPLC detection method for cannabidiolic acid (CBDA), cannabidiol (CBD), cannabinol (CBN), Δ9-tetrahydrocannabinol (THC), tetrahydro-cannabinolic acid (THCA) in 3 kinds of cosmetics matrix containing hemp leaf extract was developed. The extraction and HPLC conditions were optimized, and a methodological verification was also carried out. The results showed that this method had a good linear relationship in the range of 0.25 - 50 µg/mL with LOD values for 5 cannabinoids all between 0.10 - 0.25 µg/g. The recovery rates of 5 cannabinoids in 3 different cosmetics matrixes were between 90.1 - 108.5%, and the RSD values were all below 4.4%. These results indicated that this method had the advantages of simple operation, high sensitivity, and good accuracy. Through the testing of 6 kinds of hemp cosmetics, it was found that such cosmetics had uneven quality. The establishment of this method can lay a methodological foundation for establishing relevant testing method standards.

Corrigendum to "Selection of quality markers of Jasminum amplexicaule based on its anti-diarrheal and anti-inflammatory activities: Effect-target affiliation-traceability-pharmacokinetics strategy" [Chinese Herbal Medicines 11 (2019) 379-386].

[This corrects the article DOI: 10.1016/j.chmed.2019.08.002.].

Metabolic Insight Into the Neuroprotective Effect of Tao-He-Cheng-Qi (THCQ) Decoction on ICH Rats Using Untargeted Metabolomics.

Tao-He-Cheng-Qi decoction (THCQ) is an effective traditional Chinese medicine used to treat intracerebral hemorrhage (ICH). This study was performed to investigate the possible neuroprotective effect of THCQ decoction on secondary brain damage in rats with intracerebral hemorrhage and to elucidate the potential mechanism based on a metabolomics approach. Sprague-Dawley (SD) rats were randomly divided into five groups: the sham group, collagenase-induced ICH model group, THCQ low-dose (THCQ-L)-treated group, THCQ moderate-dose (THCQ-M)-treated group and THCQ high-dose (THCQ-H)-treated group. Following 3 days of treatment, behavioral changes and histopathological lesions in the brain were estimated. Untargeted metabolomics analysis with multivariate statistics was performed by using ultrahigh-performance liquid chromatography-mass spectrometry (UPLC-Q-Exactive Orbitrap MS). THCQ treatment at two dosages (5.64 and 11.27 g/kg·d) remarkably improved behavior (p < 0.05), brain water content (BMC) and hemorheology (p < 0.05) and improved brain nerve tissue pathology and inflammatory infiltration in ICH rats. Moreover, a metabolomic analysis demonstrated that the serum metabolic profiles of ICH patients were significantly different between the sham group and the ICH-induced model group. Twenty-seven biomarkers were identified that potentially predict the clinical benefits of THCQ decoction. Of these, 4 biomarkers were found to be THCQ-H group-specific, while others were shared between two clusters. These metabolites are mainly involved in amino acid metabolism and glutamate-mediated cell excitotoxicity, lipid metabolism-mediated oxidative stress, and mitochondrial dysfunction caused by energy metabolism disorders. In addition, a correlation analysis showed that the behavioral scores, brain water content and hemorheology were correlated with levels of serum metabolites derived from amino acid and lipid metabolism. In conclusion, the results indicate that THCQ decoction significantly attenuates ICH-induced secondary brain injury, which could be mediated by improving metabolic disorders in cerebral hemorrhage rats.

[Absorption spectra analysis in the degradation process of quinoline in aqueous solution by VUV lights].

The feasibility of monitoring the degradation progress on line by UV-Vis absorption spectra in the degradation process of quinoline in aqueous solution using the low-pressure quartz mercury lamp as vacuum ultraviolet source was evaluated by the monitoring and protracting of the UV-Vis absorption spectra at different time. The characteristic and mechanism of the change in the UV absorption spectra were analyzed by monitoring the concentration of the substrate, COD (chemical oxygen demand), TOC (total organic carbon) and pH value of the solution. It was showed that quinoline occurs in different forms under different pH conditions and consequently causes different UV-Vis absorption spectra due to the N atom in the pyridine ring. In the degradation progress, the UV-Vis absorption spectra were impacted by the degradation rate of the substrates, the production rate of the intermediates and the pH value of the solution. Proton acids were produced as intermediates and make quinoline occur in the form of its conjugated acid. When the increase in the absorption produced by the protonation was equal to the decrease induced by the degradation, the curve of the absorption at 313 nm, the characteristic absorption peak of quinoline, showed a flat in the duration of 1-3 min and then decayed continuously. In addition, the absorption at 254 nm reached a maximum at 5 min and then decayed continuously to nearly 0 at 30 min, when the absorption of the system only occurred in the region of wavelength shorter than 220 nm, indicating that the substrate was degraded completely. The research revealed that UV absorption spectra could be used to monitor the degradation process of quinoline in aqueous solution by VUV lights.

Focal adhesion kinase in netrin-1 signaling.

Netrins are a family of secreted molecules that are important for axonal outgrowth and guidance in the developing nervous system. However, the signaling mechanisms that lie immediately downstream of netrin receptors remain poorly understood. Here we report that the netrin receptor DCC (deleted in colorectal cancer) interacts with the focal adhesion kinase (FAK), a kinase implicated in regulating cell adhesion and migration. FAK was expressed in developing brains and was localized with DCC in cultured neurons. Netrin-1 induced FAK and DCC tyrosine phosphorylation. Disruption of FAK signaling abolished netrin-1-induced neurite outgrowth and attractive growth cone turning. Taken together, these results indicate a new signaling mechanism for DCC, in which FAK is activated upon netrin-1 stimulation and mediates netrin-1 function; they also identify a critical role for FAK in axon navigation.

[Mitochondrial DNA G7444A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation].

Mitochondrial 12S rRNA and tRNASer(UCN) genes are the hot spots for mutations associated with hearing loss. We reported here the clinical, genetic and molecular analysis of a Chinese pedigree with maternally inherited sensorineural hearing loss. Molecular analysis showed that the pedigree carried both mitochondrial DNA (mtDNA) A1555G and G7444A mutations. The penetrance of hearing loss in this pedigree was 58% when aminoglycoside-induced hearing loss was included. When the effect of aminoglycosides was excluded, the penetrance of hearing loss in this pedigree was 25%. The penetrance of hearing loss was significantly higher than other families carrying only A1555G mutation. Sequence analysis of the complete mitochondrial genome in the proband showed that there were 28 mtDNA polymorphisms belonging to East-Asian haplogroup B4c1. In addition to the deafness-associated A1555G and G7444A mutations, there were no other functionally significant variants found in this family. This indicated that mtDNA G7444A mutation may aggravate mitochondrial dysfunction associated with the A1555G mutation. Therefore, the coexistence of both mtDNA mutations may contribute to high penetrance of hearing loss.

[Genetic analysis of family constellation for cochlear implant recipients].

GJB2, SLC26A4 (PDS) and mitochondrial DNA (mtDNA) have been associated with sensorineural hearing loss. In the present study, the clinical, genetic and molecular analysis of 14 cochlear implant recipients and their parents was studied from April 2006 to September 2007. Of the 14 subjects, 35.7% had gene mutations; 28.6% had homozygous GJB2 235delC mutation, whose parents carried heterozygous GJB2 235delC mutation; and 7.1% had mtDNA A1555G mutation, whose mother carried mtDNA A1555G mutation too. There was no SLC26A4 (PDS) mutation. These results strongly suggested that the mutation in GJB2 gene was a major cause of deafness in cochlear implant recipients and the mutation of mtDNA A1555G was another important cause. Genetic test of hot-spots and analysis of family constellation can offer an accurate genetic counseling to deaf family and reduce the incidence of hearing loss.