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Purpose: To explore the association between progressive peripapillary capillary vessel density (pcVD) reduction and the progression of visual field (VF) impairment in individuals with normal tension glaucoma (NTG). Design: Prospective cohort study. Methods: The study enrolled 110 participants with one eye each, totalling 110 NTG eyes. VF defects were evaluated using standard automated perimetry mean deviation (MD), while pcVD measurements were obtained using optical coherence tomography angiography throughout the follow‐up period. Estimates of VF progression were determined by event‐based and trend‐based analyses. Fast VF progression was defined as an MD slope steeper than −0.5 dB/year, while the slow progression or stable VF was defined as an MD slope better or equal to −0.25 dB/year. Linear mixed‐effects models were employed to analyse the rates of change in pcVD reduction and VF MD decline over time. Additionally, univariable and multivariable linear models were used to examine the relationship between pcVD changes and VF loss rates in NTG. Results: Slow VF progression or stable VF was observed in 45% of subjects, while 25% had moderate progression and 30% showed fast progression. Patients with VF progression exhibited faster rate of pcVD reduction in peripapillary global region (−0.73 ± 0.40%/year vs. −0.56 ± 0.35%/year, p = 0.022). Moreover, this rate positively correlated with VF MD decline in NTG (estimate 0.278, 95% CI 0.122–0.433, p = 0.001). Conclusion: In individuals with NTG, faster VF progression was linked to a quicker reduction in pcVD, suggesting a positive correlation between pcVD decline and VF deterioration. [ABSTRACT FROM AUTHOR]

Aims: To reveal the Usher syndrome type IIA ( USH2A ) gene variant profile in a large cohort of Chinese patients with non-syndromic retinitis pigmentosa (RP) or Usher syndrome type II (USH2) and to explore the genotype-phenotype correlation., Methods: Targeted exome capture plus next-generation sequencing confirmed that 284 patients from 260 unrelated Chinese families carried USH2A disease-associated variants. Both personal medical history and family histories were reviewed. Ocular examinations were performed and audiograms were recorded if hearing loss was suspected. The genotype-phenotype correlation was evaluated by statistical analyses., Results: A total of 230 variants in the USH2A gene were identified, of which 90 (39.13%) were novel. The most common variants in the RP and USH2 probands were p.Cys934Trp and p.Tyr2854&#95;2894del, respectively, and 26.42% and 63.64% of the alleles in the RP and USH2 groups were truncating, respectively. Patients harbouring biallelic truncating variants had a younger age at the initial clinical visit and symptom onset than patients with missense variants; furthermore, the patients with USH2 had a younger age at the initial clinical visit and nyctalopia onset compared with the patients with RP (p<0.001). For the patients with USH2, the age of nyctalopia onset was positively correlated with that of hearing loss (p<0.05, r=0.219). In addition, three pseudo-dominant pedigrees were identified carrying biallelic USH2A variants., Conclusions: This study enrolled the largest cohort of Chinese patients with USH2A and identified the most prevalent USH2A variants in USH2 and RP. We found that the patients with USH2 had more truncating variants and experienced an earlier decline in visual function. The findings enhance the current knowledge of USH2A heterogeneity and provide valuable information for future therapies., Competing Interests: Correction notice: This paper has been updated since it was published online. Two statements in the gutter of the first page were omitted and these have now been reinstated.Competing interests: None declared., (© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Chinese genetics educators have carried out a comprehensive and systematic exploration and reform since 1978. With the guidance and help of the Genetics Society of China, they have made significant strides in the fields of genetics teaching system, publication of genetics textbooks, content of genetics teaching, workshop on genetics teaching, experimental teaching, application of advanced techniques, etc. These efforts have made remarkable achievements and promoted the vitality of genetics. The comprehensive development of education and teaching has trained a large number of excellent genetic talents for the development of China's economy and society. Here, we sum up the overall achievements of the teaching reform and propose some suggestions on the future development of genetics teaching in China, hoping that the quality of genetics teaching in China will take a new step in the new era.

Lactoferrin is an iron-binding glycoprotein with a molecular weight of about 80 kDa that belongs to the transferrin family. Due to its unique physical and chemical properties, lactoferrin has a variety of biological functions including antibacterial, antiviral, anticancer, immunomodulatory activities and regulation of iron absorption. High-yield production of recombinant lactoferrin with biological activity and its application in clinical treatment have been a hot topic for long time. With the development of genetic engineering techniques, various expression systems have been developed to produce recombinant lactoferrin. In this review, we summarize physicochemical characteristics, biological activities, clinical studies and current recombinant expression systems of lactoferrin, in order to provide references for its clinical application.

Haematococcus pluvialis is a freshwater planktonic single-cell microalgae. It will accumulate high amount of carotenoids under unfavorable environmental conditions. As one of carotenoids, lycopene is an important intermediate in the carotenoid biosynthesis pathway. Lycopene β-cyclase (LycB) is the key enzyme that catalyzes the circularization of lycopene to form β-carotene. In this study, we constructed a p1301-BS-RNAi vector using lycB from Dunaliella salina as the interference sequence with kanamycin and atrazine resistance marker, and then transformed it into H. pluvialis by electroporation. Sixteen independent transgenic lines were obtained after resistance selection, genome PCR, and RT-PCR analyses. Seven well-grown lines were selected to determine the contents of carotenoids by HPLC analysis after inducing by high light. The lycopene content in these lines was increased by 99.4% while the β-carotene content was decreased by 48.4%, indicating that the interference by heterogenous lycB could inhibit the conversion of lycopene into β-carotene. The amount of increase in lycopene was only 5% of the amount of decrease in β-carotene, indicating that 95% of the decreased β-carotene was converted into other metabolites. Therefore, in order to largely increase the lycopene content in H. pluvialis, it is necessary to coordinatively regulate other metabolic pathways.

When SRAP (Sequence-Related Amplified Polymorphism) marker was used in constructing genetic map and analyzing QTL for high temperature resistance in cucumber (Cucumis sativus L.), it exhibited certain characteristics in detecting genomic polymorphism. When each forward primer was combined with different reverse primers, the number of primer combinations that produced polymorphism ranged from five to eight. When each reverse primer was in combination with different forward primers, the number of polymorphic primer combinations ranged from two to eleven. The reverse primers SA4 or EM6 produced identical polymorphic bands when combined with all the forward primers tested. These bands might be amplified by the reverse primers. The polymorphic bands amplified from OD3ME11 co-segregated in the F2 population. The utilization of these characteristics in our research was discussed.

The zeta class of glutathione S-transferase (GSTZs), which is an important multifunctional enzyme, relates to the cell metabolism and contamination elimination. The GSTZ genes from Arabidopsis thaliana L. and Brassica napus L. cv. Shan 2B and Ken C1 were cloned into the multi-cloning site of the shuttle expression vector pYES2. After the recombinants were obtained, the recombinant plasmids were isolated and introduced into the defective mutant INCSc1 of Saccharomyces cerevisiae. Then the recombinant strains Y2At, Y2BnB and Y2BnC were obtained after cultured on SC-U selective plates. When induced in the medium containing galactose and maltose, the recombinant yeast expressed as active GSTZs showing the dichloroacetic acid dechlorinating activity, which existed in the yeast cell as a soluble state. The comparison of different carbon sources showed that sucrose and glucose significantly exhibited the expression of GSTZ gene; glycerol somewhat affected the growth of yeast but increased the specific activity of GSTZ by 17%; and galactose slightly affected the yeast growth with no affection to the activity of GSTZ. Zero to ninety-six hrs induction experiments showed that specific activity of GSTZ in recombinant yeast reached highest when induced for 36 hours. The specific activity of AtGSTZ, BnGSTZ-B and BnGSTZ-C was 5.3 U/mg, 4.3 U/mg and 0.3 U/mg, respectively. The values are lower than that expressed in the E. coli and wheat-sperm cell-free protein synthesis system. However, the relative activity of three sources was similar in E. coli and wheat cell free system. The Km value of GSTZ genes from different sources was 0.59 mmol/L and 0.79 mmol/L for AtGSTZ and BnGSTZ-B, respectively, suggesting the GSTZ enzyme from Abrabidopsis thaliana has higher affinity to DCA than that from Brassica napus.