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| 1 | Prevalence of the GJB2 Mutations in Deafness Patients of Different Ethnic Origins in Xinjiang显示文摘Objective To investigate GJB2 mutation prevalences in the Uigur and Han ethnic groups in Xinjiang, China, and determine the relationship between ethnicity and GJB2 gene mutations. Methods Information regarding ethnicity of patients' families was obtained through medical records review and/or patient interview. Blood samples were collected from 61 Uigurs and 66 Hans for direct sequencing of the coding region and intron/exon boundaries of the GBJ2 gene. Results Carrier frequency of GJB2 mutations was similar between the Uigur and Han subjects. The GJB2 35delG mutation was seen only in Uigur patients with hearing loss, whereas the 235delC mutation was identified in both Uigur and Han patients. The allelic Frequency of 35delG mutation was 7.4% (9/122) in Uigur deaf students, but none in Han deaf students (0/128) and Uigur controls (0/196). The allelic frequency of GJB2 235delC mutation in Uigur and Han deaf students was 5.7% and 9.8%, and that of 299-300delAT mutation was 0.8% and 5.5%, respectively. V27I and E114G were the most frequent types of polymorphism. Conclusion We found an Asian-specific GJB2 diversity among Uigurs, and comparable GJB2 contribution to deafness in Uigur and Han patients. The high carrier frequency of 35delG in Uigurs (11.5%) is probably defined by gene drift/founder effect in a particular group. Even though GJB2 mutations have been widely reported in the literature, this discussion represents the first report of GJB2 mutations in Chinese multi-ethnic populations. | LI Qi1, DAI Pu1, HUANG De-liang1, ZHANG Jin2, WANG Guo-jian1, ZHU Qing-wen1, Liu Xin3, HAN Dong-yi1 1 Department of otolaryngology Head & Neck Surgery/Institute of Otorhinolaryngology, Genetic Testing Genter for Deafness, PLA General Hospital, Beijing 100853 2 Department of otolaryngology Head & Neck Surgery, Xinjiang Uigur Municipality People’s Hospital 3 Department of otolaryngology Head & Neck Surgery, PLA sixteenth Hospital | 2007 | Journal of Otology2007，2，1： | 3 |
| 2 | Solid-phase sequence scanning for drug resistance detection in tuberculosis 显示文摘 | Head S R Parikh K Rogers Y H | 1999 | Mol Cellular Probes1999，13，2： | 2 |
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| 7 | Library construction for next-generation sequencing: overviews and challenges 显示文摘 | HEAD S R KIYOMI K H LAMERE S A | 2014 | Biotechniques2014，56，2： | 1 |
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| 9 | Biodegradation, gas destruction and methane generation in deep subsurface petro- leum reservoirs: an overview显示文摘 | Larter S R Head I M Huang H | 2005 | Geological Society Lon- don Petroleum Geology Conference Series2005，6，： | 1 |
| 10 | Prenatal diagnosis of congenital heart disease in the northern region of England : benefits of a training programme for obstetric uhrasonographers 显示文摘 | HUNTER S HEADS A WYLLIE J | 2000 | Heart2000，84，3： | 1 |
| 11 | Biodegradation of oil in uphfted basins prevented by deep-burial sterilization显示文摘 | Wilhelms A Larter S R Head I | 2001 | Nature2001，411，6841： | 1 |
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| 13 | Corn puting with DNA by operating on plasmids显示文摘 | Head T Rozenberg G Bladergroen R S | 2000 | Bio system2000，8793，： | 1 |
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| 16 | The microbiology of hydrocarbon degradation in subsurface petroleum reservoirs:Perspectives and prospects显示文摘 | Roling W F M Head I M Larter S R | 2003 | Res Microbiol2003，154，5： | 1 |
| 17 | Kidney transplant rejection and tissue injury by gene profiling of biopsies and peripheral blood lymphocytes显示文摘 | Flechner S M Kurian S M Head S R | 2004 | Am J Transplant2004，4，9： | 1 |
| 18 | ACS-Lite Algorithmic Architecture显示文摘 | Luyanda D Gettman F Head L Shelby S | 2003 | Transportation Research Record2003，43，11： | 1 |
| 19 | Public goods,private goods,and ambiguous goods显示文摘 | Head J G Shoup C S | 1969 | Economic Journal1969，79，315： | 1 |
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