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Abstract Background The deafness-associated gene mutation profile varies greatly among regions and races. Due to the multi-ethnic coalition of over one thousand years, non-syndromic deafness (NSD) patients of Uyghur ethnicity may exhibit a unique deafness-associated gene mutation spectrum as compared to Han Chinese deaf population. Methods In order to characterize nine loci of four deafness-associated genes of Uyghur NSD patients in comparison with Chinese Han deaf population, NSD patients (n = 350) were enrolled, including Uyghur (n = 199) and Han Chinese (n = 151). Following the history taking, blood samples were collected for DNA extraction. DNA microarray was performed on nine loci of four deafness-associated genes, including 35delG, 176-191del16, 235delC, 299-300delAT, 538C > T, 1555A > G, 1494C > T, 2168A > G, and IVS7-2A > G. The samples that showed the absence of both wild and mutant probe signals were tested for further DNA sequencing analysis. Results The mutations in the nine loci of prevalent deafness-associated genes were detected in 13.06% of Uyghur NSD patients and 32.45% of Han Chinese patients (P < 0.05), respectively. GJB2 mutation was detected in 9.05% of Uyghur patients and 16.56% of Han Chinese patients (P > 0.05), respectively. 235delC was the hotspot mutation region in NSD patients of the two ethnicities, whereas 35delG was the mutation hotspot in Uyghur patients. 187delG mutation was detected for the first time in Uyghur NSD patients and considered as an unreported pathological variant of GJB2. SLC26A4 mutation was found in 2.01% of Uyghur patients and 14.57% of Han Chinese patients (P < 0.05), respectively. The frequencies of mtDNA 12S rRNA mutation in Uyghur and Han Chinese patients were 2.01% and 2.65% (P > 0.05), respectively. The NSD patients exhibited a low frequency of GJB3 mutation regardless of ethnicity. Conclusion Prevalent deafness-associated gene mutations in the nine loci studied were less frequently detected in Uyghur NSD patients than in Han Chinese patients. GJB2 was the most common mutant gene in the two ethnicities, whilst the two ethnicities differed substantially in hotspot mutations. A low-frequency SLC26A4 mutation was detected in Uyghur NSD patients. Uyghur NSD patients differed significantly from Han Chinese patients in gene mutation profile.

Perchlorate is widely used in various industrial fields and has been widely detected in aquatic environments because of its high solubility and stability. Considering the endocrine-disrupting properties of perchlorate, the possibility of perchlorate exposure to humans through drinking water has become a public health concern. To examine whether perchlorate pollution in source water causes a risk to populations of different age groups exposed to residues in drinking water, the spatial distribution of perchlorate levels in source water and drinking water from eight major water basins in China in 2019 was quantified with ion chromatography. The average daily potential dose (ADD) of perchlorate from drinking water intake was estimated for different age groups in the Chinese population. The health risks were quantified by dividing the ADD by the reference dose corresponding to 50% inhibition of iodide uptake. The results revealed that source water contamination was the main factor in population exposure to perchlorate via drinking water. A significant difference in perchlorate contamination was observed, ranging from 5.03 µg/L to 1.80 mg/L, and high perchlorate contamination levels were detected in industrial areas with a high concentration of firework production. In contrast to previously inferred possible sources of perchlorate, i.e., emissions from the production of rockets and missiles, firework production was identified as the dominant source of perchlorate exposure via drinking water in this study. This investigation was conducted five years ago; however, the identification of sampling locations with a health risk quotient above 1 provides quantitative evidence that exposure to perchlorate in drinking water poses a risk to residents in areas affected by source pollution, and the results are helpful for identifying priority risk control areas., Competing Interests: Declarations. Competing interests: The authors declare no competing interests., (© 2025. The Author(s).)

Introduction: The hepatitis C virus (HCV) poses a major global health challenge, with its non-structural proteins being essential for viral replication and pathogenesis. Mutations in these proteins significantly contribute to drug resistance, necessitating innovative therapeutic strategies. This study aims to identify epitope-based therapeutic targets in the non-structural proteins of HCV genotype 1, employing in-depth in silico tools to counteract emerging drug resistance., Methods: We retrieved approximately 250 sequences of each non-structural protein from the NCBI database, capturing a broad spectrum of variability and sequence alignments, variability analysis and physicochemical property analysis were conducted. We utilized the TEPITOOL server by IEDB to predict cytotoxic T lymphocyte (CTL) epitopes. Following this, we assessed the efficiency of TAP transport and proteasomal cleavage using IEDB's combined predictor tool. The epitopes were selected based on conservancy analysis, immunogenicity, allergenicity, and presence in non-glycosylated regions, ensuring high predictive scores and suitability as vaccine candidates. Epitopes were docked with the HLA-A*02:01 allele and Toll-like receptor-3 using the ClusPro server. The immune response potential of the epitopes was evaluated through in-silico immune stimulation., Results: The study identified 27 potential CTL epitopes from the non-structural proteins, including NS3, NS4a, NS4b, NS5a, and NS5b. Out of these, three lead epitopes demonstrated high conservation (>90%), strong binding affinities to HLA-A*02:01 and TLR-3, and robust immune response potential. These epitopes also showed favorable characteristics such as being non-allergenic and non-glycosylated., Conclusion: This comprehensive in-silico analysis provides a promising foundation for developing an epitope-based vaccine targeting HCV non-structural proteins, offering a novel approach to overcoming drug resistance in HCV treatment., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Tudi, Sawuti, Abudurusuli, Wu, Chen, Ailimu, Wulayin and Tuerxun.)

Objective: To investigate the risk factors of acute kidney injury (AKI) patients with acute myocardial infarction (AMI) and establish potential microRNA (miRNA) biomarkers in the peripheral blood of AMI-AKI patients., Methods: Patients hospitalized from 2016 to 2020 and diagnosed with AMI (with AKI or without AKI groups) were recruited. The data of the two groups were compared and the risk factors of AMI-AKI were analyzed by logistic regression. The receiver operator characteristics (ROC) curve was drawn and the predictive value of risk factors in AMI-AKI was evaluated. Six AMI-AKI patients were selected and six healthy subjects were enrolled as the control. The peripheral blood samples of the two groups were collected for miRNA high-throughput sequencing., Results: A total of 300 AMI patients were collected, including 190 patients with AKI and 110 patients without AKI. Multivariate logistic regression analysis indicated that diastolic pressure (68-80 mmHg), urea nitrogen, creatinine, serum uric acid (SUA), aspartate aminotransferase (AST), and left ventricular ejection fraction were the dependent risk factors of AMI-AKI patients (P < 0.05). ROC curve showed that the incidence of AMI-AKI patients was most correlated with urea nitrogen, creatinine, and SUA. In addition, 60 differentially expressed miRNAs were identified between AMI-AKI and controls. Then, hsa-miR-2278, hsa-miR-1827, and hsa-miR-149-5p were more corrected with predictors. Twelve of them targeted 71 genes involved in phagosome, oxytocin signaling pathway, and microRNAs in cancer pathways., Conclusion: Urea nitrogen, creatinine, and SUA were the dependent risk factors and important predictors for AMI-AKI patients. Three miRNAs may be considered as biomarkers for AMI-AKI., (© 2023. The Author(s), under exclusive licence to Springer Nature B.V.)

Tidal flat areas are important resources for land development and are becoming antibiotic resistance receivers that trigger major health concerns. The spatial distributions of forty-nine antibiotics, nine antibiotic resistance genes (ARGs), one mobile gene element (MGE) gene, and nine available metals in the soils and sediments along the coastlines of the Yellow Sea in China were quantified. Hierarchical linear model analysis was used to explore relationships between the antibiotics and ARGs across multiple effects resulting from human activities and environmental factors. Fish farm sediments and farmland soils showed high levels of quinolones (QNs) (maximum 637 ng·g -1 ), sulfonamides (SAs) (maximum 221 ng·g -1 ), and corresponding ARGs. Significant positive correlations (P from 5.47 × 10 -14 to 0.0487) were observed between the antibiotics (QNs, SAs, and chlortetracycline) and their corresponding ARGs (qnrA, qnrD, aac(6')-Ib-cr, dfrA, sul2, and tetA), indicating the selective pressure from antibiotics in soils and sediments. Nine available metals had positive correlations with at least one ARG, indicating heavy metal pollution could enhance the ARGs. Sheep and poultry husbandry and marine aquaculture contribute the most to the antibiotic resistance in the coastlines. In conclusion, antibiotic pollutions have promoting effects at sub-inhibitory concentrations and more attention should be given to inhibit the enrichment of ARGs during tidal flat reclamation processes. The study also suggests the induction effects from metal pollutions, MGE spread, and the antibiotic pollutions from the usage in livestock and aquaculture., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Located in central Asia, Xinjiang is characterized as a diverse environment in China, consisting of vast deserts, dotted oases, and high mountains. Due to the combined effect of climate conditions under such a diverse environment, there are large differences in human activities, living styles, and eating habits in farmland and grazing pastures between Xinjiang and other regions of China. This study aimed to investigate the variations and mechanisms of elemental distribution in the hair of Uyghur communities among different ages and genders and under different land use backgrounds in an oasis region in Xinjiang. Hair samples from 524 residents from four traditional farmland areas and two grazing pasture areas in Bai Cheng County in Xinjiang were collected, and the levels of thirteen elements were analyzed. The results indicated that the average levels of Cu, Mg, Mn, Zn, Ni, Co, Pb, Fe, Ca, Cd, Cr, As, and Se in the hair of Uyghur communities were within the background levels of Chinese and global residents' hair. Overall, the levels of elements in the hair of women residents were higher than those of men residents. The levels of elements in the human hair of the middle-aged group were higher than those of child and older-aged groups. Elements Cr and Se in the hair of grazing pastures were higher than those of farmland areas. The levels of Cd, Pb, As, and Zn in the hair of farmland areas were higher than those of grazing pasture areas. The levels of Ca, Mg, Cu, and Fe in the hair of Uyghur communities were higher than those of other ethnic groups, while the toxic elements in the hair of residents in Bai Cheng were lower than those in other regions of China. Middle-aged people were exposed to higher levels of toxic elements in their daily activities compared to elderly and child groups. Also, adult groups need much more nutrients for their growth and intellectual development compared to child and elderly groups. The change in land use from grazing pastures to farmland increased the toxic trace element concentration levels in human hair. The significant differences in the overall concentration levels of elements in human hair among the different ethnic groups and regions can be attributed to the differences in lifestyles, cultural customs, dietary habits, and internal and external exposure routes., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Drip irrigation is a valuable method for optimising water and fertiliser usage, motivating its increasing use. However, the ecological effects of drip irrigation fertilisation have not been sufficiently evaluated, limiting its effective and widespread use. Within this context, we aimed to determine the effects and potential ecological risks of using polyethylene irrigation pipes and mulch substrate under various drip irrigation conditions as well as burning of waste pipes and mulch substrate. Laboratory simulations of field conditions were used to determine the distribution, leaching, and migration pattern of heavy metals (Cd, Cr, Cu, Pb, and Zn) from plastic drip irrigation pipes and agricultural mulch substrate into various solutions. Maize samples obtained from drip-irrigated fields were analysed to determine the presence of heavy metal residues and assess the risk of heavy metal contamination. Heavy metal leaching from pipes and mulch substrate was high under acidic conditions, while the migration of heavy metals from plastic products was low in alkaline water-soluble fertiliser solutions. After combustion, heavy metal leaching from pipes and mulch residues increased considerably, with the migration capacity of Cd, Cr, and Cu increasing by >10-fold. Heavy metals in plastic pipes migrated primarily to the residue (bottom ash), whereas those from mulch substrate migrated to the fly ash component. Under experimental conditions, the migration of heavy metals from plastic pipes and mulch substrate had a negligible effect on the heavy metal content in aqueous environments. Although heavy metal leaching increased, the effect on water quality under actual irrigation conditions was relatively minor (in the order of 10 -9 ). Thus, the use of plastic irrigation pipes and mulch substrate did not result in significant heavy metal contamination and potential risk to the agriculture ecosystem. Our study findings provide evidence for the effective application and widespread promotion of drip irrigation and fertiliser technology., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this study., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Pymetrozine is one of the most commonly used insecticides in China. This study was conducted to analyse Pymetrozine's potential exposures through various environmental routes beyond the treatment areas. The aim was to estimate the potential health risk for communities due to non-dietary exposures to Pymetrozine in soil and paddy water. Data on registration of pesticides in China, government reports, questionnaires, interviews and literature reviews as well as toxicological health investigations were evaluated to determine the hazard and dose-response characteristics of Pymetrozine. These were based on the US EPA exposure and human health risk assessment methods and exposure data from soil and paddy water samples collected between 10 and 20 m around the resident's location. The exposure doses from dermal contact through soil and paddy water were estimated. The potential cancer risk from the following exposure routes was evaluated: ingestion through soil; dermal contact exposure through soil; dermal contact exposure through paddy water. The potential total cancer risk for residents was estimated to be less than 1 × 10 -6 . These were relatively low and within the acceptable risk levels. The potential hazard quotient (HQ) from acute and lifetime exposure by dermal contact through paddy water and soil and acute and lifetime exposure by soil ingestion for residents was less than 1, indicating an acceptable risk level. This study suggested that there were negligible cancer risk and non-cancer risks based on ingestion and dermal contact routes of exposure to residents., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Pesticides play an important role in agricultural development. However, pesticide application can result in both acute and chronic human toxicities, and the adverse effects of pesticides on the environment and human health remain a serious problem. There is therefore a need to discuss the application methods for pesticides, the routes of pesticide exposure, and the health risks posed by pesticide application. The health problems related to pesticide application and exposure in developing countries are of particular concern. The purpose of this paper is to provide scientific information for policymakers in order to allow the development of proper pesticide application technics and methods to minimize pesticide exposure and the adverse health effects on both applicators and communities. Studies indicate that there are four main pesticide application methods, including hydraulic spraying, backpack spraying, basal trunk spraying, and aerial spraying. Pesticide application methods are mainly selected by considering the habits of target pests, the characteristics of target sites, and the properties of pesticides. Humans are directly exposed to pesticides in occupational, agricultural, and household activities and are indirectly exposed to pesticides via environmental media, including air, water, soil, and food. Human exposure to pesticides occurs mainly through dermal, oral, and respiratory routes. People who are directly and/or indirectly exposed to pesticides may contract acute toxicity effects and chronic diseases. Although no segment of the general population is completely protected against exposure to pesticides and their potentially serious health effects, a disproportionate burden is shouldered by people in developing countries. Both deterministic and probabilistic human health risk assessments have their advantages and disadvantages and both types of methods should be comprehensively implemented in research on exposure and human health risk assessment. Equipment for appropriate pesticide application is important for application efficiency to minimize the loss of spray solution as well as reduce pesticide residuals in the environment and adverse human health effects due to over-spraying and residues. Policymakers should implement various useful measures, such as integrated pest management (IPM) laws that prohibit the use of pesticides with high risks and the development of a national implementation plan (NIP) to reduce the adverse effects of pesticides on the environment and on human health.

Pymetrozine has replaced toxic organophosphate pesticides previously used for controlling pests of rice crops in China. Existing data on its environmental behavior are usually related to studies on artificial plots that do not adequately address the natural dynamics and residues in actual field conditions. Therefore, studies under field conditions were carried out to investigate the natural dynamics and residues of pymetrozine in two typical rice-growing areas in China - Hunan and Guangxi provinces. Samples of paddy soil and water were collected in relation to spraying events in the study areas. The quick, easy, cheap, effective, rugged and safe (QuEChERS) method was used to extract pymetrozine residues from the samples by a Waters ACQUITY UPLC (Milford, MA, USA) system interfaced with a triple-quadrupole mass spectrometer (Xevo TQ-D, Waters Corp., USA). The initial deposition of pymetrozine in paddy soils was higher than in paddy waters in both areas. The decay of pymetrozine followed an exponential trend consistent with the first order kinetics. The half-life of pymetrozine in paddy water was determined to be 3.0 and 3.8 days, whereas the half-life in soil was 3.8 and 3.5 days in the Guangxi and Hunan samples, respectively. The decline rates of pymetrozine in paddy soil and paddy water in this field study were faster than those conducted under non-field conditions reported in previous studies. Compared to other pesticides used in China as reported in previous studies, the environmental persistence of pymetrozine in both paddy water and soils in Guangxi and Hunan provinces is very low. This has important implications for the use of pymetrozine in agricultural systems globally., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)

Pollution resulting from toxic trace elements is an increasing concern around the world especially in developing countries such as China. Rapid industrialisation, urbanisation and agricultural development are the dominant sources of anthropogenic contamination contributed to an increased potential toxicity of trace elements in the irrigation water-soil-food chain. Xin Jiang in China is a reserved cultivated land development area that could provide the most extensive strategic support for food production and arable land security in China. Thus, it is crucial to investigate the bioaccumulation and translocation of trace elements in order to assess the ecological and human health risks in the traditional oasis system of the agricultural areas in Bay Cheng County, Xin Jiang. This study analysed the levels of trace elements in different layers of the soil, the irrigation water and the wheat plants, and the relationships among them. The results indicated that cadmium (Cd) and chromium (Cr) were the primary pollutants in soils and wheats respectively, and they fell into the serious pollution category. However, no trace elements over the pollution limits were detected in irrigation water. The maximum values of trace elements appeared in the soil layers at 5-10 cm and 10-15 cm. The pollution levels of trace elements in the soil layers were found at 0-5 cm and 0-20 cm, which were higher than those at 20-80 cm. In wheat, high amounts of absorption for Se, Cr, Zn and Cu, but low for Pb were detected in different parts of a plant. The roots of wheats were more eco-toxic to Cd, Co and Pb than other tissues, indicating that roots were more effective at absorbing Cd, Co and Pb, as these metals are usually toxic in the soil. Se, Cu and Zn showed a higher ability of being transferred from soils to the edible parts of crops. The bio-transfer factors of Zn, Mo, Cu, Mg and Mn were considerably higher than those of other elements. The average cancer risk of As, Cd, Co, Ni and TCR in wheat grains exceeded the safety reference limit (1 × 10 -4 ). For the exposed population, Cr in wheat was the major contributor to total cancer risk. The average values of HQ of Cr, Mn and As, and total non-cancer risk index exceeded the corresponding effective safe reference doses (HQ > 1)., (© 2020. Springer Science+Business Media, LLC, part of Springer Nature.)

Water quality is closely associated with human health and socio-economic sustainable development. With the increasingly intensive anthropogenic activities, pollutants especially trace elements, enter water aquatic system and cause harm to humans. This study conducted the first systematic comparison on the pollution status of surface water and groundwater in China. Water quality and health risk assessment of 12 trace elements were evaluated according to the water quality index (WQI), hazard quotient (HQ), hazard index (HI), and carcinogenic risk (CR). The results showed that the average values of trace elements in the majority of surface water were higher than those in groundwater. The WQI values demonstrated that 86.02% of surface water and 83.11% of groundwater were suitable for drinking water. Arsenic served as the predominant pollutant and contributed significantly to cause the non‑carcinogenic risk on human health in both surface water and groundwater, children were more vulnerable to the adverse effects than adults. In surface water, the priority non-carcinogenic risk sites were mainly distributed in Anning River, Taizi River, Middle reaches of Huai River and Jilin section of Songhua River. For groundwater, the high-risk sites were located in Huhhot Basin, Kuitun, Jianghan Plain, Datong Basin and Yucheng County. Arsenic posed potential carcinogenic risk to local resident in some water sites, and it presented higher in groundwater than surface water. More concerns should be paid on Songhua, Yangtze and Huai River Basins, in addition, Pearl, Southeast Coastal, Southwest and Northwest River Basins still need attention. The future work should be carried out more extensive range of the water sites and long-term monitoring in China. In particular, more attention should be dedicated to assess high As water bodies., (Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)

Pesticides are indispensable in agricultural production. They have been used by farmers to control weeds and insects, and their remarkable increases in agricultural products have been reported. The increase in the world's population in the 20th century could not have been possible without a parallel increase in food production. About one-third of agricultural products are produced depending on the application of pesticides. Without the use of pesticides, there would be a 78% loss of fruit production, a 54% loss of vegetable production, and a 32% loss of cereal production. Therefore, pesticides play a critical role in reducing diseases and increasing crop yields worldwide. Thus, it is essential to discuss the agricultural development process; the historical perspective, types and specific uses of pesticides; and pesticide behavior, its contamination, and adverse effects on the natural environment. The review study indicates that agricultural development has a long history in many places around the world. The history of pesticide use can be divided into three periods of time. Pesticides are classified by different classification terms such as chemical classes, functional groups, modes of action, and toxicity. Pesticides are used to kill pests and control weeds using chemical ingredients; hence, they can also be toxic to other organisms, including birds, fish, beneficial insects, and non-target plants, as well as air, water, soil, and crops. Moreover, pesticide contamination moves away from the target plants, resulting in environmental pollution. Such chemical residues impact human health through environmental and food contamination. In addition, climate change-related factors also impact on pesticide application and result in increased pesticide usage and pesticide pollution. Therefore, this review will provide the scientific information necessary for pesticide application and management in the future.

This study provides an overview of the studies of heavy metal pollution regarding As, Cd, Cr, Hg, Pb, Cu, Zn and Ni in the urban soils throughout 71 cities of China, based on data from online literature, during the period 2003-2019. The concentrations, spatial distributions, contamination degrees and health risks of heavy metals in the urban soils were evaluated. The results demonstrated that the mean values of eight heavy metals all exceeded the soil background values in China, and the kriging interpolation method showed that the hot-spot cities with heavy metal contamination in urban soils were mainly concentrated in the southwest, southcentral, southeast coast, northcentral and northwest regions of China. The geoaccumulation index ( Igeo ) indicated that Hg and Cd were at moderate contamination levels and that the levels of the other six metals did not appear contamination. The pollution index ( PI ) showed that Cd and Hg reached high contamination levels, and the other metals reached moderate contamination levels. The integrated pollution index ( IPI ) and potential ecological risk index ( PRI ) indicated that the integral urban soils in the study areas ranked high contamination levels and moderate ecological risk degree, respectively, and Cd and Hg should be labeled as priority metals for control in the urban soils around China. The human health risk assessments for the heavy metals indicated that ingestion was the dominant exposure pathway for having adverse effects on human health. The mean Hazard index ( HI ) values of eight heavy metals all showed that adverse effects on human health were unlikely, and the mean carcinogenic ( CR ) values of As, Cr and Ni for children and adults all suggested an acceptable carcinogenic risk to human beings. In addition, children exposed to these heavy metals faced more serious non-carcinogenic and carcinogenic health threats compared to adults. The results could provide valuable information for demanding the better control of heavy metal pollution and mitigation of the adverse effects on residents by environmental regulators in national urban regions.

The concentration level related to toxicities of trace elements in drinking water, rice, wheat flour, and their associated negative impacts on human health have become an emergent issue in China. Because Xinjiang is the largest province in China with the majority of arable pasture land available for cultivation, it is important to analyze the concentrations of trace elements in relation to their toxicities in water, rice, and wheat flour and to investigate the health risk differences between agricultural and pastoral areas in Bay County, Xinjiang. The study results showed that (1) metal concentrations from drinking water, rice, and wheat flour were within the permissible limits; (2) concentration levels of trace elements and their total risk from drinking water and rice were higher in the agricultural areas than those in the pastoral areas, whereas concentration levels of trace elements and their total risk from wheat flour were higher in the pastoral areas than those in the agricultural areas; (3) the concentration level of the trace elements in rice were higher than in the wheat flour, but the risk from the wheat flour was higher than the risk from rice; (4) total non-cancer risk from the flour (HI f ) in both areas exceeded the respective safe reference doses; (5) total cancer risk from the wheat flour, rice, and water exceeded the safety limit (1 × 10 -4 ); (6) for the exposed population, arsenic was suggested as the most evident pollutant leading to carcinogenic concerns regarding the water, rice, and wheat flour; (7) the risk index from the wheat flour made up the highest percentage both in the total cancer risk and the non-cancer risk, followed by rice and then water; and (8) the human health risk was attributed to influence from the local environment in the agriculture areas, while it was attributed to the external environment in the pastoral areas. Graphical abstract.

Objective: To investigate the frequency of the mutations in Uyghur nonsyndromic deafness groups in Kashgar region of Xinjiang province by means of screening the common mutations of known deafness genes in China., Methods: One hundred and seventy-four Uyghur patients with hearing loss were involved in this study. Questionnaire survey was conducted and peripheral blood samples were collected for polymerase chain reaction. Screening was performed for 35delG, 176-191del16, 235delC, 299-300delAT, 1555A > G, 1494C > T, 2168A > G and IVS7-2A > G. DNA sequence analysis was performed for the samples with absent signals at some loci. SPSS 17.0 software was used to analyze the data., Results: Mutation of GJB2 was the most common among the three known deafness genes. 187delG was found for the first time in Uyghur groups with hearing loss and was a new pathological mutation of GJB2. The mutation rate of SLC26A4 was low in the experimental group with no significant difference when compared with the control group. The mtDNA 12S rRNA mutation rate in the deaf group was low but not detected in the control group. In addition, mutations were not detected in 17 cases among the 20 patients with positive family history., Conclusion: The mutation rate and dominant mutation of Uyghur ethnic nonsyndromic deaf groups have their own characteristics, it is necessary to conduct a sequence analysis and a stemma studying for an aim of perfecting the mutation spectrum of Uyghur deafness gene.