OBJECTIVE: To investigate the mutation characteristics of common deafness gene from 127 non-syndromic hearing loss patients in Guangxi province. METHOD: Deafness-related gene mutations detection kit was used to detect 15 mutation sites in four deafness-associated genes, and a total of 127 hearing impaired patients were tested. The samples that could not be diagnosed with DNA microarray were subjected to PCR and sequenced to detect other mutations. RESULT Among the 127 patients with non-syndromic deafness, the total mutation rate is 8.66% (11/127), including GJB2 235delC homozygous in 3 cases (2.36%), 235delC single heterozygous mutation in 2 cases (1.57%), GJB2 235delC and 109 A > G mutations in 2 cases (1.57%); SLC26A4 1229C > T homozygous in 1 case (0.79%), IVS7-2A > G, IVS11 + 47T > C and 15448insC mutaion in 2 cases (1.57%); mitochondrial 12S rRNA gene mutations were not detected. The result indicates that GJB2 and SLC26A4 were the main genes in this study, and the mutation rate is significantly lower than the national average level. Three new mutations (SLC26A4 IVS11 + 47T > C,1548insC and GJB2 109A > G) were found. There may be rare mutations among sites or genes associated with deafness in Guangxi.
China ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; Deafness ; genetics ; Heterozygote ; Homozygote ; Humans ; Membrane Transport Proteins ; genetics ; Mutation ; Oligonucleotide Array Sequence Analysis ; Polymerase Chain Reaction ; RNA, Ribosomal ; genetics ; Sulfate Transporters

Objective:To understand the level and distribution of iodine contents in drinking water in Fuzhou City so as to provide evidence for prevention of iodine deficiency disorders and health intervention.Methods:In 2017, a township-level water iodine survey was carried out in 12 counties (cities, districts) under the jurisdiction of Fuzhou City, with a township as a unit, and carry out administrative village-level water iodine survey in township with the median water iodine ≥ 10 μg/L. The water samples of residents' drinking water were collected according to different water supply methods (centralized water supply, mixed water supply and decentralized water supply), and the water iodine content was determined. The water iodine content less than 10 μg/L means iodine deficiency in the external environment. The iodine contents in drinking water of residents in different areas, different water supply methods and different water source types were compared and analyzed.Results:A total of 172 townships in 12 counties (cities, districts) were investigated for water iodine, and 1 630 water samples were collected and tested, the median water iodine was 2.8 μg/L and the range was 0.0 - 130.3 μg/L. At the township-level, the median range of water iodine was 0.4 - 11.2 μg/L. A total of 75 administrative villages were investigated in 4 townships with a median water iodine ≥ 10 μg/L, the median water iodine range was 0.5 - 19.8 μg/L. At the counties (cities, districts) level, the medians of water iodine were all less than 10 μg/L. Among them, the medians of water iodine in inland areas and coastal areas were 2.0 and 4.0 μg/L, respectively, and the difference between different areas was statistically significant ( Z = - 15.70, P <0.01). The medians of water iodine for centralized water supply, mixed water supply and decentralized water supply were 4.1, 2.7, and 3.4 μg/L, respectively, and the difference between different water supply methods was statistically significant ( H = 19.38, P < 0.01). The medians of water iodine in surface water and well water were 2.4 and 3.1 μg/L, respectively, the difference between different water source types was statistically significant ( Z = - 6.23, P<0.01). Conclusions:Iodine deficiency of external environment is common in Fuzhou City, and there is no distribution of high iodine in water source. It is necessary to strengthen the monitoring of iodine deficiency disorders, establish a long-term working mechanism suitable for the level of economic and social development, and consolidate the achievements of prevention and control.

Objective:To learn about the changing trend of iodine deficiency disorders (IDD) and the iodine nutrition level of key populations in Fuzhou.Methods:From March 2017 to October 2019, a cross-sectional survey method was used to carry out IDD monitoring among key populations in 12 counties (cities, districts) of Fuzhou. In each county (city, district), one township/street was selected from five directions: East, West, South, North and Middle. Forty non-boarding children aged 8-10 (age balanced, half male and half female) from one primary school and 20 pregnant women in each township/street were selected as the survey subjects. The edible salt samples and instant urine samples of children and pregnant women were collected to detect the contents of salt iodine and urinary iodine; the thyroid volume of children was measured by B-ultrasound, and the goiter rate was calculated.Results:From 2017 to 2019, a total of 7 479 edible salt samples were collected from children's homes, and the median salt iodine was 23.40 mg/kg, the coverage rate of iodized salt was 94.06% (7 035/7 479), the qualified rate of iodized salt was 97.70% (6 873/7 035), and the consumption rate of qualified iodized salt was 91.90% (6 873/7 479). A total of 3 602 edible salt samples were collected from pregnant women's homes, and the median salt iodine was 23.69 mg/kg, the coverage rate of iodized salt was 94.73% (3 412/3 602), the qualified rate of iodized salt was 97.66% (3 332/3 412), and the consumption rate of qualified iodized salt was 92.50% (3 332/3 602). A total of 7 479 urine samples were collected from children, and the median urinary iodine was 172.70 μg/L. A total of 3 602 urine samples were collected from pregnant women, and the median urinary iodine was 131.21 μg/L. A total of 7 479 cases of thyroid gland in children were examined, including 89 cases of goiter, and the goiter rate was 1.19%.Conclusions:The consumption rate of qualified iodized salt ( > 90%) of key populations, urinary iodine (100-< 200 μg/L) and goiter rate ( < 5%) of children in Fuzhou are all in line with the national standard for elimination of IDD, but pregnant women are at risk of iodine deficiency (urinary iodine < 150 μg/L).

Objective:To learn about the implementation of various prevention and control measures after achieving the stage goal of eliminating iodine deficiency disorders (IDD) in Fuzhou City, and to evaluate the prevention and control effect.Methods:In September 2020, an assessment and evaluation was conducted on elimination of IDD in 12 counties (cities, districts) under the jurisdiction of Fuzhou City, with specific reference to the "Evaluation Content and Judgment Standards for Elimination of Iodine Deficiency Disorders" (2019 version). Using the target evaluation table for eliminating IDD, 4 management indicators of organizational and leadership, monitoring and prevention measures, iodized salt management and health education in 12 counties (cities, districts) from 2016 to 2020 were evaluated. Using stratified random sampling method, 2 townships/streets were selected from each county (city, district), and 20 pregnant women were sampled from each township/street. At the same time, two villages (neighborhood committees) were randomly selected from each township/street, and 20 children aged 8 - 10 (age balanced, half male and half female) were randomly selected from each village (neighborhood committee). The edible salt samples and instant urine samples of children and pregnant women were collected to detect the contents of salt iodine and urinary iodine; the iodine supplementation status of pregnant women was investigated by iodine supplementation rate questionnaire; the goiter in children was measured by B-ultrasound.Results:The management indicators scores of all 12 counties (cities, districts) were > 85 points, with an average score of 92.75 points. Changle District had the highest score (98 points), and Taijiang District had the lowest score (90 points). A total of 1 457 household salt samples were collected and tested in the city, including 967 samples from children aged 8 - 10 and 490 samples from pregnant women. The median salt iodine was 24.24 mg/kg, and the coverage rate of iodized salt was 93.62% (1 364/1 457). The qualified rate of iodized salt was 97.80% (1 334/1 364), and the coverage rate of qualified iodized salt was 91.56% (1 334/1 457). Except for Gulou District (88.33%, 106/120), Taijiang District (85.00%, 102/120), Mawei District (86.67%, 104/120), Changle District (89.34%, 109/122) and Minqing County (88.43%, 107/121), the coverage rate of qualified iodized salt was < 90%, the coverage rate of qualified iodized salt in the remaining counties (cities, districts) was > 90%. A total of 967 urine samples were collected from children, the median urinary iodine was 187.80 μg/L. The median urinary iodine of children in all counties (cities, districts) ranged from 140.08 to 269.70 μg/L. A total of 967 children were examined, and the goiter rate was 0.72% (7/967). The goiter rate ranged from 0 to 2.44% in all counties (cities, districts). A total of 490 urine samples were collected from pregnant women, with a median urinary iodine of 148.48 μg/L. Among them, the median urinary iodine of pregnant women in Gulou District (184.23 μg/L), Mawei District (262.85 μg/L), Jin'an District (176.80 μg/L), Luoyuan County (166.60 μg/L) and Yongtai County (157.62 μg/L) was > 150 μg/L, the median urinary iodine of pregnant women in other counties (cities, districts) was between 100 and 150 μg/L. A total of 490 pregnant women were investigated for iodine supplementation, the iodine supplementation rate was 94.90% (465/490). Except for Gulou District (85.00%, 34/40), Cangshan District (85.00%, 34/40) and Lianjiang County (87.50%, 35/40), the iodine supplementation rate < 90%, the iodine supplementation rate of pregnant women in other counties (cities, districts) was > 90%.Conclusions:The IDD prevention and control measures in Fuzhou City have been well implemented, and all counties (cities, districts) in Fuzhou City have maintained the state of eliminating IDD, and continued to consolidate the prevention and control achievements.

Objective:To investigate the iodine nutrition status of key population in Fuzhou City, and to provide scientific basis for adjusting intervention strategies.Methods:From March to October 2021, a survey was conducted on iodine nutrition status of key population in 12 counties (cities, districts) of Fuzhou City. Each county (city, district) was divided into 5 sampling areas according to the east, west, south, north and middle directions. One township (street) was selected from each area, and 40 non-boarding children aged 8 - 10 (age balanced, half male and half female) from one primary school and 20 pregnant women (early, middle and late pregnancy balanced) were selected as survey subjects. Household salt samples and random urine samples were collected, and the salt iodine and urine iodine levels were tested by direct titration and arsenic and cerium catalytic spectrophotometry, respectively. Children's thyroid volume was measured by B-ultrasonography. At the same time, in cooperation with Fuzhou Maternal and Child Health Hospital, the thyroid stimulating hormone (TSH) testing results of heel blood of full-term natural delivery newborns in Fuzhou City in 2021 were collected.Results:A total of 2 400 children were monitored for salt iodine, urine iodine and goiter. The median salt iodine was 24.40 mg/kg, with an iodine salt coverage rate of 93.04% (2 233/2 400), a qualified rate of iodized salt of 97.40% (2 175/2 233), and a consumption rate of qualified iodized salt of 90.62% (2 175/2 400). The median urine iodine was 181.47 μg/L. The rate of goiter was 1.04% (25/2 400). A total of 1 200 pregnant women were monitored for salt iodine and urine iodine. The median salt iodine was 24.10 mg/kg, the coverage rate of iodized salt was 91.08% (1 093/1 200), the qualified rate of iodized salt was 97.90% (1 070/1 093), and the consumption rate of qualified iodized salt was 89.17% (1 070/1 200). The median urine iodine was 128.10 μg/L. The median TSH level in the heel blood of 14 242 newborns was 3.38 mU/L, and the proportion of TSH level > 5 mU/L was 30.96% (4 410/14 242).Conclusions:In 2021, children in Fuzhou City are at an appropriate level of iodine, but pregnant women are insufficient of iodine. We should continue to maintain comprehensive prevention and control measures mainly based on salt iodization, provide health education for pregnant women, and strengthen monitoring of TSH level in newborns.