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| 1 | GJB2 mutation spectrum in deaf population in a typical southeastern area of China显示文摘Mutations in GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment. However, the spectrum and prevalence of mutations in this gene vary among different ethnic groups. In China, 30,000 infants are born with congenital hearing impairment annually. In order to provide appropriate genetic testing and counseling to the families, we investigated the molecular etiology of nonsyndromic deafness in 103 unrelated school children attending Nantong School for the Deaf and Mute in Jiangsu Province, China. The coding exon of the GJB2 gene was PCR amplified and sequenced. Sixty two GJB2 mutant alleles were identified in 35.9% (37/103) of the patients. Twenty five patients carried two pathogenic mutations and 12 patients carried one mutant allele. The 235delC was the most common mutation accounting for 69.4% (43/62) of GJB2 mutant alleles. The GJB2 mutant alleles accounted for 30.1% (62/206) of all chromosomes responsible for nonsyndromic hearing impairment. Testing of the 3 most prevalent deleterious frame shift mutations in this cohort detected 100% of all GJB2 mutant alleles. These results demonstrate that an effective genetic testing of GJB2 gene for patients and families with nonsyndromic hearing impairment is possible. | DAI Pu1*, YOU Yi-wen2*, CUI Jing-hong2*, YU Fei1, HAN Bing 1, KANG Dong-yang1, YUAN Hui-jun1, HAN Dong-yi1, 1. Department of Otolaryngology, PLA General Hospital, Beijing, People’s Republic China, 100853 2. Department of Otolaryngology, Nantong University Affiliated Hospital, Nantong, Jiangsu Province, People’s Republic China, 226001 *Pu Dai, Yiwen You, Jinghong Cui contribute equally to this paper | 2006 | Journal of Otology2006，1，2： | 10 |
| 2 | 少数民族文字比较探源显示文摘语言和文字都是文化传承和传播的载体,而文字的产生更具有划时代意义。由于文字的发明,使人们的交际范围豁然扩大,可以跨越时间、空间而传递信息,极大地促进了人类的文明,成为“野蛮时代”与“文明时代”的分水岭。在我国,除汉字外,还有多种少数民族文字,通过这些文字,保存和发展了光辉灿烂的中华文化。少数民族文字繁多,有的在历史上通行一时而成了“死文字”,如佉卢文、突厥文、回鹘文、焉耆龟兹文、于阗文、契丹文、西夏文、女真文、满文等;有的虽然延续下来,但主要保留在宗教经典中,如彝文。 | 史继忠 龙基成 | 1994 | 贵州民族研究1994，14，2： | 5 |
| 3 | Ethnic variations in ulcerative colitis: Experience of an international hospital in Thailand显示文摘AIM: To investigate the clinical characteristics, treatment, medication use, and treatment response in patients with ulcerative colitis(UC) across ethnic groups.METHODS: This study retrospectively analyzed medical records of all 268465 patients who visited the Bumrungrad International Digestive Disease Center during 2005-2010. The demographics, clinical characteristics, medication use, results of investigations, and medical and surgical management for patients with UC were evaluated. Evaluation included sigmoidoscopy and colonoscopy performed in compliance with the American Society of Gastrointestinal Endoscopy practice guidelines. Patient ethnicities were categorized into seven groups: Thai, Oriental, South Asian(SA), Middle Eastern(ME), Caucasian, African, and Hispanic. UC pathological severity was classified into inactive, mild, moderate, and severe. Associations between categorical variables were analyzed using the χ2 or Fischer's exact test. Associations between categorical and interval variables were analyzed usingStudent's t-test and/or analysis of covariance.RESULTS: UC was diagnosed in 371 of the 268465 patients: male 56.33%; ME 42%, Caucasian 23%, and Thai 19%. Annual incidence of UC was 82 cases per 100000 with wide ethnic variation, ranging from 29 to 206 cases per 100000 in Oriental and ME patients, respectively. Of the patients with UC, 16.71% had severe UC with highest incidence among the patients from ME(20.39%) and lowest among the Caucasian population(11.90%). ME had highest proportion of pancolitis(52.90%), followed by Caucasian(45.35%) and Asian(34.40%). Only 20.93% of Caucasian patients received steroid, compared with 26.40% and 27.10% of Asian and Middle Eastern, respectively(P = 0.732). Overall, 13.72% of UC patients did not respond to steroid therapy, with non-significantly higher proportions of non-responders among Asian and Middle Eastern patients(15.22% and 15.04%, respectively)(P = 0.781). On average, 5.93% underwent surgical management with ethnic variation, ranging from 0% in African to 18% in SA. Cancer was found in three(Thai, ME, and African) cases(0.82 institution-specific incidence).CONCLUSION: Incidence, symptom duration, pathological severity, clinical manifestations, medication use, treatment response, need for surgical consultation, and cancer incidence of patients with UC potentially vary by ethnicity. | Vibhakorn Permpoon Krit Pongpirul Sinn Anuras | 2016 | World Journal of Gastrointestinal Pharmacology and Therapeutics2016，7，3： | 4 |
| 4 | THE STUDY OF POPULATION GENETIC RELATION AMONG TEN ETHNIC GROUPS IN NORTHWEST CH INA显示文摘Objective To investigate the genetic relation am on g ten ethnic groups in northwest China. Methods Allele frequ encies of six STR(short tandem repeat ) loci in D13S1358, VWA, FGA, D5S818, D13S 317, and D7S820 were collected from Lasa Tibetan, Changdu Tibetan, Xi’an Han, G ansu Dongxiang, Gansu Yugu, Xinjiang Uygur, Ozbak, Kirgiz, Sibe, Ningxia Hui by the results of State Key laboratory, Forensic Science Department, school of medi cal, Xi’an Jiaotong University and internet biological information data bank, a nd compared with that of the Mongolian, Zhuang in China, and White and Negro in USA. The polymorphism index (H, DP, PPE, PIC) and genetic distance, then the phy logenetic tree of all population were reported. Results The res ulting tree topology exhibited strong geographic and racial partitioning consist ent with that obtained with HLA and classical genetic polymorphisms. Conclusion The results suggest that forensic STR loci may be particular ly powerful tools and provide the necessary fine resolution for the reconstructi on of recent human evolutionary history. | 康龙丽 金天博 陈腾 李生斌 | 2004 | Journal of Pharmaceutical Analysis2004，16，2： | 2 |
| 5 | 从族际交往看当代黔中地区屯堡人与周边少数民族的关系显示文摘费孝通先生曾指出'民族关系是指民族与民族之间的交往关系。'所以本文从族际交往这一视角来分析贵州省安顺地区'屯堡人'与周边少数民族的关系在当代的演变情况。通过研究我们发现:在长期的发展过程中,当代黔中地区屯堡人与周边少数民族的交往日渐频繁,民族关系日益融洽。 | 何彪 王锴 | 2010 | 教育文化论坛2010，2，5： | 2 |
| 6 | GOODBYE HARDSHIP显示文摘'Making it possible for people of all ethnic groups to have a good life has been my aspiration as well as our common goal',Xi wrote in his letter. Yunnan, which borders Myanmar, Laos and Viet Nam, has 25 ethnic minorities. The vast mountainous areas in the province have been identified as a major target for the governments poverty alleviation. | Yuan Yuan | 2019 | Beijing Review2019，62，20： | 0 |
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