Rapid detection of antibiotic resistance genes in lactic acid bacteria using PMMA-based microreactor arrays.

The emergence of lactic acid bacteria (LABs) resistant to existing antimicrobial drugs is a growing health crisis. To decrease the overuse of antibiotics, molecular diagnostic systems that can rapidly determine the presence of antibiotic resistance (AR) genes in LABs from yogurt samples are needed. This paper describes a fully integrated, miniaturized plastic chip and closed-tube detection chemistry that performs multiplex nucleic acid amplification. High-throughput identification of AR genes was achieved through this approach, and six AR genes were analyzed simultaneously in < 2 h. This time-to-result included the time required for the extraction of DNA. The detection limit of the chip was 103 CFU mL-1, which was consistent with that of tube LAMP. We detected and identified multiple DNAs, including streptomycin, tetracycline, and vancomycin resistance-associated genes, with complete concordance to the Kirby-Bauer disk diffusion method.Key Points• A miniaturized chip was presented, and multiplex nucleic acid amplification was performed.• The device can be integrated with LAMP for rapid detection of antibiotic resistance genes.• The approach had a high throughput of AR gene analysis in lactic acid bacteria.

Identification of putative phosphoproteins in wheat spikes induced by Fusarium graminearum.

MAIN CONCLUSION: Phosphorylation and dephosphorylation events were initiated in wheat scab resistance. The putative FHB-responsive phosphoproteins are mainly involved in three functional groups and contain at least one tyrosine, serine, or threonine phosphorylation site. Fusarium head blight (FHB), caused by Fusarium graminearum, is a severe disease in wheat. Protein phosphorylation plays an important role in plant-pathogen interactions, however, a global analysis of protein phosphorylation in response to FHB infection remains to be explored. To study the effect of FHB on the phosphorylation state of wheat proteins, proteins extracted from spikes of a resistant wheat cultivar after 6 h of inoculation with F. graminearum or sterile H2O were separated by two-dimensional gel electrophoresis, and then the immunodetection of putative phosphoproteins was conducted by Western blotting using specific anti-phosphotyrosine antibody, anti-phosphothreonine antibody and anti-phosphoserine antibody. A total of 35 phosphorylated signals was detected and protein identities of 28 spots were determined. Functional categorization showed that the putative FHB-responsive phosphoproteins were mainly involved in defense/stress response, signal transduction, and metabolism. The phosphorylation status of proteins associated with signaling pathways mediated by salicylic acid, calcium ions, small GTPase, as well as with detoxification, reactive oxygen species scavenging, antimicrobial compound synthesis, and cell wall fortification was regulated in wheat spikes in response to F. graminearum infection. The present study reveals dynamics of wheat phosphoproteome in response to F. graminearum infection and suggests an important role of protein Ser/Thr/Tyr phosphorylation in fundamental mechanisms of wheat scab resistance.

Proteomic and physiological responses of Arabidopsis thaliana exposed to salinity stress and N-acyl-homoserine lactone.

To evaluate the alleviating action of exogenous N-acyl-homoserine lactones (AHLs) on NaCl toxicity, morphological, physiological and proteomic changes were investigated in Arabidopsis thaliana seedlings. Salinity stress decreased growth parameters, increased malondialdehyde (MDA) contents and antioxidant enzymes such as superoxide dismutase (SOD), guaiacol peroxidase (POD) and catalase activities. Application of lower concentration of AHL had a relieving effect on Arabidopsis seedlings under salinity stress which dramatically decreased MDA content, and increased growth parameters as well as SOD and POD activities. Total proteins were extracted from the control, NaCl-, AHL- and NaCl + AHL-treated seedlings and were separated using two-dimensional gel electrophoresis. A total of 127 protein spots showed different expression compared with the control. Mass spectrometry analysis allowed the identification of 97 proteins involved in multiple pathways, i.e. defense/stress/detoxification, photosynthesis, protein metabolism, signal transduction, transcription, cell wall biogenesis, metabolisms of carbon, lipid, energy, sulfur, nucleotide and sugar. These results suggest that defense/stress response, metabolism and energy, signal transduction and regulation, protein metabolism and transcription-related proteins may be particularly subjected to regulation in salt stressed Arabidopsis seedlings, when treated with AHL and that this regulation lead to improved salt tolerance and plant growth. Overall, this study provides insight to the effect of AHL on salinity stress for the first time, and also sheds light on overview of the molecular mechanism of AHL-regulated plant growth promotion and salt resistance.

The hyper-fluorescent transitional bands in ultra-late phase of indocyanine green angiography in chronic central serous chorioretinopathy.

BACKGROUND AND OBJECTIVES: Chronic central serous chorioretinopathy (CSCR) is regarded as a type of severe diffuse retinal pigment epitheliopathy. There is an atrophic tract at level of retinal pigment epithelium (RPE) due to hyper-permeability of choroidal vessels, along with photoreceptor (PR) atrophy. Indocyanine green angiography (ICGA) is considered a gold standard for diagnosis. The purpose of this work is to investigate the hyper-fluorescent transitional bands (HFTB) between hypo-fluorescent and normal regions of the retina in the ultra-late phase of ICGA in CSCR. METHODS: 26 chronic CSCR eyes and 12 relative normal eyes received spectral domain optical coherence tomography (SD-OCT), and ICGA at the 24th hour after indocyanine green (ICG) intravenous injection. RESULTS: In the ultra-late phase, images showed homogenous fluorescence in all normal eyes. On the contrary, geographical hypofluorescent lesions with atrophy of RPE was noted in 26 chronic CSCR eyes. Moreover, HFTB with intact RPE and disrupted PR was detected in 20 out of 26 chronic CSCR eyes (76.9%). CONCLUSIONS: The HFTB may indicate the early damage in chronic CSCR. Ultra-late ICGA can monitor not only metabolic status by endogenous melanin, but also membrane function in RPE by exogenous ICG molecule.

Heat shock protein 47 is up-regulated in conjunctival bleb scarring after filtration surgery in rats.

BACKGROUND: Heat shock protein 47 (HSP47), a collagen-specific molecular chaperone, is involved in the biosynthesis and secretion of procollagen. Recent studies have shown a close association between increased HSP47 and excessive accumulation of collagens in various fibrotic diseases. This study was conducted to evaluate whether HSP47 plays a role in conjunctival bleb scarring after filtration surgery in rats. METHODS: Trabeculectomy of the right eye was performed in Sprague-Dawley (SD) rats. Eight rats were euthanized at 2, 5, 8 and 11 days after surgery. Four rats were used to extract mRNA and the other four were used to extract protein. Blebs and normal control conjunctival tissues were collected. Real-time PCR (RT-PCR) and Western blot methods were used to evaluate alterations in HSP47 levels and type I and type III collagen. RESULTS: Bleb formation was observed in all eyes. Both the expression of HSP47 mRNA and protein in conjunctival blebs increased at 2, 5, 8 and 11 days postoperatively compared with that in normal control conjunctival tissues. The differences of both the mean mRNA and protein levels of HSP47 in blebs at each time point and in the normal control conjunctiva were statistically significant (mRNA level: F = 175.811, p < 0.001; protein level: F = 68.356, p < 0.001). Type I and type III collagen levels in blebs were raised at different time points both at mRNA and at protein levels. The differences between mean mRNA and protein levels of both type I and type III collagen in blebs at 2, 5, 8 and 11 days after surgery and in the normal control conjunctiva were statistically significant (mRNA level: FI = 182.210, p I < 0.001; FIII = 125.490, p III < 0.001; protein level: FI = 160.092, p I < 0.001; FIII = 62.374, p III < 0.001 ). The amount of HSP47 in bleb positively correlated with that of both type I and type III collagens (mRNA level: rsI = 0.688, p I = 0.003; rsIII = 0.900, p III < 0.001; protein level: rsI = 0.688, p I = 0.003; rsIII = 0.832, p III < 0.001). CONCLUSIONS: HSP47 is likely to be involved in the pathogenesis of conjunctival bleb scarring and may play a role in the process of conjunctival bleb fibrosis.

Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.

PURPOSE: The purpose of this study was to analyze BEST1 gene mutations in Chinese patients with bestrophinopathy and to describe the clinical features of these patients. METHODS: Thirteen patients from 12 unrelated Chinese families affected by bestrophinopathy were recruited and clinically evaluated with best-corrected visual acuity examination, slit-lamp biomicroscopy, fundus examination and photography, optical coherence tomography, fundus autofluorescence, electro-oculography, and electroretinography. Blood samples were collected for DNA extraction. Mutation analysis was performed by direct sequencing of the BEST1 gene. One hundred control chromosomes were also screened to exclude nonpathogenic polymorphisms. RESULTS: Seven patients showed clinical pictures of Best vitelliform macular dystrophy (BVMD) and harbored heterozygous mutations compatible with autosomal dominant inheritance. Two novel mutations (p.T4I and p.A291V) and three reported mutations (p.R218C, p.Q293H, and p.D301G) were identified. Six patients carried BEST1 mutations on both alleles compatible with autosomal recessive inheritance. Compound heterozygous mutations were detected in four patients who presented a BVMD phenotype, while homozygous mutations were detected in two patients with autosomal recessive bestrophinopathy. Mutation analysis revealed eight mutations. Four (p.Y33H, p.R130L, p.M163R, and c.519delA) were novel, and four (p.R13H, p.A195V, p.R255W, and p.W287*) had previously been reported. CONCLUSIONS: Patients with biallelic BEST1 mutations were common among Chinese patients with bestrophinopathy, and the phenotypes varied. The features and combinations of different BEST1 mutations as well as epistatic effects may influence phenotype expression. Our results expand the BEST1 mutation spectrum.

Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa.

PURPOSE: This study was to analyze the spectrum and frequency of rhodopsin gene (RHO) mutations in Chinese patients with retinitis pigmentosa (RP). METHODS: Patients were given physical examinations, and blood samples were collected for DNA extraction. The RHO mutations were screened with direct sequencing. RESULTS: Eight heterozygous nucleotide changes were detected in eight of 300 probands with RP, including six novel mutations and two known mutations. p.R21C, p.C110S, p.G182V, p.C187G, c.409-426delGTGGTGGTGTGTAAGCCC, and p.P347L were found in six autosomal dominant families. p.T92I and p.Y178C were found in two isolated cases. CONCLUSIONS: The results reveal the spectrum and frequency of RHO mutations in Chinese patients with different forms of RP and demonstrate that RHO mutations account for a high proportion of autosomal dominant RP (adRP) cases.

Fabrication of Schiff-base crosslinked films modified dialdehyde starch with excellent UV-blocking and antibacterial properties for fruit preservation.

Starch-based films have received considerable attention, owing to their commendable biocompatible and biodegradable properties; however, their poor ultraviolet (UV)-blocking and antibacterial performances limit their application in fruit preservation. Herein, bio-based bifunctional benzoxazine (Bi-BOZ) compounds with different carbon chain lengths were synthesized, and the influence of chain lengths on the antibacterial effect was explored. Benzoxazine with 1,12-dodecanediamine as the amine source (BOZ-DDA) exhibited excellent antibacterial and antibiofilm activities, with minimum inhibitory concentrations of 21.7 ± 2.2 and 23.3 ± 2.6 µg/mL against Escherichia coli and Staphylococcus aureus, respectively, mainly because the electrostatic attraction and hydrophobic effect of BOZ-DDA, effectively disrupted the bacterial integrity. DS/DDA films with hydrophobic, antibacterial, and UV-resistant abilities were prepared by the Schiff-base reaction between BOZ-DDA and dialdehyde starch (DS). The interactions between the films increased with BOZ-DDA content, enhanced mechanical and barrier properties. DS/DDA films exhibited acid-responsive antibacterial activity attributed to the acid hydrolysis of Schiff bases, released of BOZ-DDA from the films, and the protonation of BOZ-DDA. DS/DDA films exhibited commendable antibacterial and anti-ultraviolet characteristics compared to commercially available films, allowing them to prevent the degradation of mangoes and grapes. As sustainable antibacterial materials, the multifunctional DS/DDA films manifest promising prospects in fruit preservation packaging applications.

Money grows on green energy: Financing a sustainable power future.

This research aims to estimate the relationship between green bond financing and the OECD nations' performance on the renewable energy indices. The study attempted to quantify the relationship between concepts by analyzing data from OECD countries for 2011-2019. Padroni unit root test, FMOLS, and DOLS method provide evidence for the study's results and convey broad policy implications on this important topic. The robustness is consequently examined through a long-term sensitivity analysis employing the FMOLS, and green bond financing nexus concerning the renewable energy indices is shown for comparison. The study showed that financing of green bonds had a predictable impact on renewable energy indices variables. Green bonds' unequal implications for renewable energy measures across the study period bear out this interpretation. The study's findings call for full suppot from government institutions, energy agencies, and departments to optimize energy efficiency, as green bond financing played a 32% role in OECD nation's renewable energy index constructions and increased per unit improvement in renewable energy sources by 9.6%. The research offers many policy recommendations for improving energy efficiency through renewable energy generation. Recent studies extend and contribute to the existing body of literature, although the scientific discussion on this subject matter still needs to be more detailed and understudied. Financial unpredictability may be transformed into a tremendous opportunity if the renewable energy business is appropriately regulated.

Remote sensing identification of green plastic cover in urban built-up areas.

Urban renewal can transform areas that are not adapted to modern urban life, allowing them to redevelop and flourish; however, the renewal process generates many new construction sites, producing environmentally harmful construction dust. The widespread use of urban green plastic cover (GPC) at construction sites and the development of high-resolution satellites have made it possible to extract the spatial distribution of construction sites and provide a basis for environmental protection authorities to protect against dust sources. Existing GPC extraction methods based on remote sensing images are either difficult to obtain the exact boundary of GPC or cannot provide corresponding algorithms according to different application scenarios. In order to determine the distribution of green plastic cover in the built-up area, this paper selects a variety of typical machine learning algorithms to classify the land cover of the test area image and selects K-nearest neighbor as the best machine learning algorithm through accuracy evaluation. Then multiple deep learning methods were used and the top networks with high overall scores were selected by comparing various aspects. Then these networks were used to predict the GPC of the test area image, and the accuracy evaluation results showed that the segmentation accuracy of deep learning was much higher than that of machine learning methods, but it took more time to predict. Therefore, combining different application scenarios, this paper gives the corresponding suggested methods for GPC extraction.

Bacterial contamination of medical face mask wearing duration and the optimal wearing time.

Introduction: Bacterial contamination is a critical parameter for how long a medical mask will be worn. Methods: In this study, we used the pour plate method to observe the total bacteria counts in used medical face masks. The bacterial community analysis was detected using bio-Mass spectrometry technology and 16SrRNA gene sequencing technology. The wearing time of the mask from 0.5 hours to 5 hours were studied. Results: These results shown that the total number of bacteria on the inside surface of the mask were higher than the outside. The total number of bacteria on the inner surface of masks worn for 0.5 h, 1 h 2 h, 4 h and 5 h was 69 CFU/m2,91.3 CFU/m2, 159.6 CFU/m2, 219 CFU/m2, and 879 CFU/m2, respectively. The total number of bacteria on the outside surface of masks worn for 0.5 h, 1 h 2 h, 4 h and 5 h was 60 CFU/m2, 82.7 CFU/m2, 119.8 CFU/m2, 200 CFU/m2, and 498 CFU/m2, respectively. The bacterial abundance obtained from bio-Mass spectrometry were consistent with the results of 16SrRNA sequencing. Both the methods discovered the maximum number of Neisseria followed by Corynebacterium species in mask worn 5 hours. The top 100 bacteria isolated from inside and outside surface of mask belong to 11 phyla. Conclusions: We analyzed bacterial penetration efficiency of the bacteria that were detected both on the inside and outside surface of the masks. In the top 10 bacteria, no bacteria were detected both inside and outside the mask worn for four hours, while 6 bacteria species were detected on the inside and outside of the mask after wearing for five hours. Bacterial penetration rates ranged from 0.74% to 99.66% for masks worn continuously for five hours, and the penetration rate of four strains exceeded 10% in the top 10 colonies. We recommend timely replacement of masks worn for more than four hours.

Optimized glycemic control of type 2 diabetes with reinforcement learning: a proof-of-concept trial.

The personalized titration and optimization of insulin regimens for treatment of type 2 diabetes (T2D) are resource-demanding healthcare tasks. Here we propose a model-based reinforcement learning (RL) framework (called RL-DITR), which learns the optimal insulin regimen by analyzing glycemic state rewards through patient model interactions. When evaluated during the development phase for managing hospitalized patients with T2D, RL-DITR achieved superior insulin titration optimization (mean absolute error (MAE) of 1.10 ± 0.03 U) compared to other deep learning models and standard clinical methods. We performed a stepwise clinical validation of the artificial intelligence system from simulation to deployment, demonstrating better performance in glycemic control in inpatients compared to junior and intermediate-level physicians through quantitative (MAE of 1.18 ± 0.09 U) and qualitative metrics from a blinded review. Additionally, we conducted a single-arm, patient-blinded, proof-of-concept feasibility trial in 16 patients with T2D. The primary outcome was difference in mean daily capillary blood glucose during the trial, which decreased from 11.1 (±3.6) to 8.6 (±2.4) mmol L-1 (P < 0.01), meeting the pre-specified endpoint. No episodes of severe hypoglycemia or hyperglycemia with ketosis occurred. These preliminary results warrant further investigation in larger, more diverse clinical studies. ClinicalTrials.gov registration: NCT05409391 .

A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

PURPOSE: To identify the genetic defect in an autosomal dominant isolated ectopia lentis (EL) family. METHODS: Detailed family history and clinical data were collected from the family including sixteen patients with isolated EL. Blood samples of nine patients, one normal person and two unknown children's were collected. Genomic DNA was extracted from leukocytes of peripheral blood. Genotyping was performed by microsatellite markers and logarithm-of-odds (LOD) scores were calculated using the LINKAGE Programs. Mutation screening in the candidate gene, fibrillin-1 (FBN1), was performed by direct sequencing. RESULTS: Linkage to the FBN1 locus is verified. Mutation screening in FBN1 identified a C>T transition at nucleotide position c.2920. This nucleotide change results in the cysteine substitution for highly conserved arginine at codon 974 (p.R974C). This mutation is identified in all affected individuals but is not found in 50 control healthy people. CONCLUSIONS: A novel mutation of FBN1 results in an arginine to cysteine residue (p.R974C) substitution, which is responsible for the patients with isolated EL in this Chinese family.

Hydrophilic tyrosine-based phenolic resin with micro-ripples morphology for marine antifouling application.

Since biofouling challenges negatively influence the marine and transportation industries, developing effective antifouling materials have attracted extensive concern. A tyrosine-based antifouling phenolic resin (TPP resin) was synthesized using tyrosine as a natural phenol source. TPP exhibited shell-like surface morphology with micro-ripples and excellent anti-adhesion properties against bacteria and diatom. The micro-ripples surface might be caused by the strong hydrogen bonding or ionic interaction among tyrosine units resulting in microphase separation during the curing process. Tyrosine content in TPP resin has a great influence on the surface properties, morphology and antifouling characteristics. The higher the tyrosine content, the higher is the surface hydrophilicity, the denser and more regular is the micro-ripples morphology, and the stronger is the antifouling performance. TPP-60 % exhibited the best antifouling performance. Combination of the surface hydrophilicity and regular micro-ripples surface morphology afford TPP excellent antifouling performance. TPP resins offer a broad prospect for developing phenolic resin in the antifouling field.

Preparation and Separation Properties of Electrospinning Modified Membrane with Ionic Liquid Terminating Polyimide/Polyvinylpyrrolidone@Polydopamine.

In this paper, superhydrophilic polyimide (PI) membranes were prepared using the electrostatic spinning method, capped with a hydrophilic ionic liquid (IL), and blended with polyvinylpyrrolidone (PVP). Using this preparation, the surface of the fiber membranes was coated in polydopamine (PDA) by means of an in-growth method. Scanning electron micrographs showed prepared blend films can form continuous fibers, for whom the distributions of diameter and pore were uniform. Post-modification (carried out by adding hydrophilic substances), the ability of the membrane surface to adhere to water was also significantly improved. The water contact angle was reduced from 128.97 ± 3.86° in unmodified PI to 30.26 ± 2.16°. In addition, they displayed a good separation effect on emulsified oil/water mixtures. The membrane flux reached a maximum value of 290 L·m-2·h-1, with a maximum separation efficiency reached of more than 99%. After being recycled 10 times, the separation efficiency maintained a level exceeding 95%. The purpose of this study is to demonstrate the simplicity and efficiency of this experiment, thereby providing new ideas for the future application of membrane separation technology in wastewater treatment.

Towards artificial general intelligence via a multimodal foundation model.

The fundamental goal of artificial intelligence (AI) is to mimic the core cognitive activities of human. Despite tremendous success in the AI research, most of existing methods have only single-cognitive ability. To overcome this limitation and take a solid step towards artificial general intelligence (AGI), we develop a foundation model pre-trained with huge multimodal data, which can be quickly adapted for various downstream cognitive tasks. To achieve this goal, we propose to pre-train our foundation model by self-supervised learning with weak semantic correlation data crawled from the Internet and show that promising results can be obtained on a wide range of downstream tasks. Particularly, with the developed model-interpretability tools, we demonstrate that strong imagination ability is now possessed by our foundation model. We believe that our work makes a transformative stride towards AGI, from our common practice of "weak or narrow AI" to that of "strong or generalized AI".

A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.

PURPOSE: Congenital cataracts are a clinically and genetically heterogeneous lens disorder. The purpose of this study was to identify the genetic mutation and the molecular phenotype responsible for the presence of an autosomal dominant congenital nuclear cataract disease in a Chinese family. METHODS: Patients were given a physical examination and their blood samples were collected for DNA extraction. Genotyping was performed by microsatellite markers, and a logarithm of odds (LOD) score was calculated using the LINKAGE programs. Mutation detection was performed by direct sequencing. RESULTS: Linkage to the crystallin beta A1 (CRYBA1) locus was identified. DNA sequencing of the gene revealed a c.279-281delGAG mutation in exon 4, which resulted in a glycine residue deletion at position 91 (ΔG91). This mutation was identified in all of the affected individuals but was not found in the 100 control chromosomes. CONCLUSIONS: Our results identify that the c.279-281delGAG mutation in CRYBA1 is responsible for the autosomal dominant congenital nuclear cataract disease in this Chinese family.

A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

PURPOSE: Congenital cataracts are a clinically and genetically heterogeneous lens disorder. The purpose of this study was to identify the genetic mutation and the molecular phenotype responsible for the presence of autosomal dominant congenital nuclear cataract disease in a Chinese family. METHODS: Patients were given physical examinations and their blood samples were collected for DNA extraction. Genotyping was performed by microsatellite markers and logarithm-of-odds (LOD) scores were calculated using the LINKAGE programs. Mutation detection was performed by direct sequencing. RESULTS: Linkage to the major intrinsic protein (MIP) locus was identified. Sequencing MIP revealed an A→G transition at nucleotide position c.530, which caused a conservative substitution of Tyr to Cys at codon 177 (P.Y177C). The Y177C mutation is located in the fifth transmembrane sequence. This mutation was identified in all affected individuals but is not found in any of the 100 control chromosomes. CONCLUSIONS: Our results identify that the c.530 (A→G) mutation in MIP is responsible for the Chinese pedigree. Our results further identify that the mutation in MIP is responsible for congenital cataract. The mutation found in our study broadens the spectrum of MIP mutations.

A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families.

PURPOSE: Congenital cataract is a clinically and genetically heterogeneous lens disorder. The purpose of this study was to identify the mutation responsible for autosomal dominant congenital coralliform cataracts in two Chinese families and to investigate the relationship between virulence genes and lens morphology. METHODS: Patients received a physical examination, and blood samples were collected for DNA extraction. Mutation analysis was performed by direct sequencing of the candidate genes: gammaC-crystallin (CRYGC), gammaD-crystallin (CRYGD), gammaS-crystallin (CRYGS), gap-junction protein, alpha 8 (GJA8), gap-junction protein, alpha 3 (GJA3), and alphaA-crystallin (CRYAA). RESULTS: The affected individuals in two families had congenital coralliform cataracts. Mutational analysis of the CRYGD identified a C→A transversion at nucleotide position c.70 in exon 2, which resulted in a threonine substitution for proline at amino-acid residue 24 (P24T). This mutation was identified in all affected individuals but was not found in healthy relatives or 100 control chromosomes from the same ethnic background. CONCLUSIONS: Our results indicated that the P24T mutation of CRYGD was responsible for two Chinese pedigrees with congenital coralliform cataracts. CRYGD and coralliform cataracts are highly related, and P24T may be a hot-point mutation for this disorder.

A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

PURPOSE: Congenital cataract is both a clinically and genetically heterogeneous lens disorder. The purpose of this study is to map and identify the mutation in an autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Patients were given physical examinations and their blood samples were collected for DNA extraction. Genotyping was performed by microsatellite markers and logarithm of odds (LOD) scores were calculated using the LINKAGE programs. Mutation detection was performed by direct sequencing. RESULTS: Linkage to the gap-junction protein α3 (GJA3) locus was verified. Sequencing of GJA3 revealed a G>A transition at nucleotide position c.139, which causes an Asn substitution for the conservative Asp at codon 47 (P.D47N).This mutation is identified in all affected individuals but is not found in 100 control chromosomes. CONCLUSIONS: Our results identify that the mutation (D47N) in GJA3 is responsible for this Chinese pedigree. It is further identified that GJA3 is responsible for congenital cataract. In our study, the novel mutation broadens the spectrum of GJA3 mutations.