1.Mitochondrial 12S rRNA gene A827G in two pedigrees with nonsyndromic deafness.
Zhi-bin CHEN ; Xin CAO ; Guang-qian XING ; Hui-qin TIAN ; Ai-dong ZHOU ; Qinj-un WEI ; Xing-kuan BU
Chinese Journal of Medical Genetics 2006;23(4):415-418
OBJECTIVETo investigate the relationship of associating mitochondrial DNA 12S rRNA gene mutations with non-syndromic and aminoglycoside-induced hearing loss happening to Chinese families.
METHODSThe diagnosis was validated by hearing tests. Blood samples were collected from 20 family members (13 subjects from pedigree A and 7 from pedigree B) and 32 sporadic deafness cases. DNA was extracted from the leukocytes in blood samples. The gene fragments of mitochondrial DNA 12S rRNA, tRNA(Ser(UCN)) and GJB(2) were amplified by polymerase chain reaction (PCR). PCR products were analyzed by sequencing.
RESULTSThe target gene fragments of all individuals were successfully amplified by PCR. The mitochondrial DNA 12S rRNA 827 A to G transition was detected from all maternal members including 12 patients with hearing loss, which was the homoplasmic mutation. Non-maternal members in two pedigrees did not carry this mutation. However, the tRNA(Ser(UCN)) A7445G, 12SrRNA A1555G and GJB2 gene mutations were not found from both the family members of two pedigrees and sporadic patients. One sporadic individual (1/32) who was diagnosed as aminoglycoside-induced hearing impairment carried A827G mutation too.
CONCLUSIONIt is confirmed that the mitochondrial DNA 12S rRNA gene is a hot spot for mutations associated with non-syndromic inherited hearing loss. The 12S rRNA nt827 A to G mutation may play a pivotal role in the pathogenesis of hearing impairment in two Chinese pedigrees.
Adolescent ; Base Sequence ; Child ; Child, Preschool ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; DNA, Mitochondrial ; chemistry ; genetics ; Deafness ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Male ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; RNA, Ribosomal ; genetics
2.Epidemiologic study on hearing impairment and ear diseases in old people.
Cheng LIU ; Xing-Kuan BU ; Guang-qian XING ; Ling ZHOU ; Xia XU ; Deng-yuan WANG ; Zhi-bin CHEN ; Han ZHOU ; Hui-qin TIAN ; Xiao-lu LI ; Ling LU ; Xiao-nian ZHAO ; Fang-li LI ; Chang-qiang TAN
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2006;41(9):661-664
OBJECTIVETo investigate the prevalence of hearing impairment and ear diseases in old people and provide scientific data for drawing up the prevention and treatment strategies.
METHODSUsing the probability proportion to size (PPS) method, 1261 people over 60 years were investigated in 40 clusters in Jiangsu Province with the WHO protocol.
RESULTSThe prevalence of hearing impairment was 58.1% (the standardized rate: 59.5% in the whole country, 60.9% in Jiangsu province). Degrees of hearing impairment were mild (33.1%), moderate (17.8%), severe (5.9%) and profound (1.3%). The prevalence of hearing disability was 25.0% (the standardized rate: 26.6% in the whole country, 28.1% in Jiangsu province). There were significant difference of the prevalence between male and female, as well as urban and rural, and different ages. The prevalence of the ear diseases was auricle malformation (0.2%), wax (1.7%), otitis externa (0.1%), fungi (0.5%), serous otitis media (1.2%), chronic suppurative otitis media (1.6%), dry perforation of tympanic membrance (2.3%). The causes of hearing impairment were ear diseases (2.9%), non-infectious condition (92.6%), genetic condition (0.3%) and undetermined causes (4.2%). Of which, 31.1% of persons needed hearing aids while 2.3% of persons needed medicine treatment, but 0.9% of persons needed non-urgent surgery and 1.0% of persons needed other treatment.
CONCLUSIONSThe prevalence of hearing impairment and disability in the old rised obviously than the last investigation in 1987. It was a heavy burden for social development in China. The government and the whole society should take more concern about the problem. The scientific strategies of prevention and treatment were urgently needed and implemented.
Aged ; Aged, 80 and over ; Audiometry, Pure-Tone ; China ; epidemiology ; Ear Diseases ; epidemiology ; Female ; Hearing Loss ; epidemiology ; Humans ; Male ; Middle Aged ; Prevalence
3.Case-control study of female breast cancer and occupational risk factors based on lasso logistic regression in Beijing.
Ai Hua LI ; Yan YE ; Zhi Feng SUN ; Xing Kuan TIAN ; Gui Xin YU ; Zhuang SHEN
Chinese Journal of Industrial Hygiene and Occupational Diseases 2022;40(2):109-112
Objective: To understand the relationship between female breast cancer and occupational risk factors in Beijing, and provide scientific basis for the formulation of prevention strategies and measures. Methods: From June to December 2019, A 1: 1 case-control study was adopted, eight medical institutions in Beijing were selected as the research objects. Patients with breast cancer diagnosed by medical institutions were selected as case group and non breast cancer patients in the same medical institution as control group. A total of 973 subjects were included, including 495 in the case group and 478 in the control group. A one-to-one survey was conducted using a questionnaire uniformly compiled by the Beijing Centers for Disease Control and Prevention. The survey content mainly includes basic demographic characteristics and occupational risk factors. The Trait Coping Style Questionnaire (TCSQ) was used to investigate the corresponding methods, including two aspects: positive coping and negative coping. First, chi square test or Wilcoxon rank sum test were used for univariate analysis. Then Lasso regression was used to screen the risk factors of breast cancer. Finally, the risk factors were screened by multivariate logistic regression analysis. Results: Education lovel was 49.64%, body mass index (BMI) was 18.4~23.9 kg/m(2), accounting for 48.82%, marital status ws 84.48%. Compared with no night shift history, there was a significant increase in risk of breast cancer at night shift history (OR=1.70, 95% CI: 1.25~2.30, P<0.05) . Compared with most of the sitting posture and sometimes standing, the risk of breast cancer was increased, and the difference was statistically significant (OR=2.01, 95%CI: 1.40~2.90, P<0.05) . Conclusion: In the occupation risk factors, night shift work and working posture are related to the incidence of breast cancer in women, establishing a good schedule and avoiding long standing can effectively prevent and reduce the occurrence of breast cancer.
Beijing
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Breast Neoplasms/epidemiology*
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Case-Control Studies
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Female
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Humans
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Logistic Models
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Risk Factors
4.Identification and analysis of glycosyltransferase in Codonopsis pilosula from different regions based on transcriptome
Xing-rui TIAN ; Jiao-jiao JI ; Jian-kuan LI ; Feng JIANG ; Zhe-yu LIU ; Jian-ping GAO
Acta Pharmaceutica Sinica 2022;57(7):2216-2223
Lu Dangshen is the geoherb in Shanxi Province. The content of
5.Multidimensional Analysis of Risk Factors Associated with Breast Cancer in Beijing, China: A Case-Control Study.
Ai Hua LI ; Yan YE ; Jun CHEN ; Zhi Feng SUN ; Shui Ying YUN ; Xing Kuan TIAN ; Zai Fang HU ; Sarah Robbins SCOTT ; Gui Xin YU ; Li HU ; Zi Huan WANG ; Li Geng SUN ; Zhuang SHEN
Biomedical and Environmental Sciences 2020;33(10):785-790