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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 | Contribution of theexploration of deep crystalline fractured reservoir ofSoultz to the knowledge of enhanced geothermal systems(EGS)显示文摘 | Genter A Evans K Cuenot N | 2010 | Comptes Rendus Geoscience2010，342，7： | 1 |
| 3 | Deepseatedgeology of the granite intrusions at the Soultz EGS sitebased on data from 5 km-deep boreholes显示文摘 | Hooijkaas G R Genter A Dezayes C | 2006 | Geothermics2006，35，56： | 1 |
| 4 | Diabetes-related amputation of lower extremities in the Medicare poulation-Minnesota显示文摘 | Genters for Disease Control and Prevention | | 0，，： | 1 |
| 5 | The deep EGS project at Soultz-Sous-Forest ( Alsace, France ) 显示文摘 | Gerard A Genter A Kohl T | 2006 | Geother- mics2006，35，： | 1 |
| 6 | Relation of serum acid to mortality and ische mic heart disease : The NHANESI Epide mologic Follow-up study显示文摘 | Freedamn D s Williamson D F Genter E W | 1995 | Am J Epidemiologle1995，141，4： | 1 |
| 7 | Olfactory toxicity of beta, beta- -iminodipropionitrile in the rat 显示文摘 | Genter MB Llorens J O' Callaghan | 1992 | J Pharmacol Exp Ther1992，263，： | 1 |
| 8 | Contribution of the explorationof deep crystalline fractured reservoir of Soultz to the knowledge ofenhanced geothermal systems ( EGS) 显示文摘 | Genter A Evans K Cuenot N | 2010 | Comptes Rendus Geo-science2010，34，： | 1 |
| 9 | Deepseated geology of the granite intrusions at the Soultz EGS site based on data from 5 krn?deep boreholes显示文摘 | Hooijkaas G R Genter A Dezayes C | 2006 | Geothennics2006，35，56： | 1 |
| 10 | Seismic responseof the fractured and faulted granite of Soultz-sous-Forêts(France) to 5 km deep massive water injections显示文摘 | Dorbath L Cuenot N Genter A | 2009 | Geophysical Journal International2009，177，2： | 1 |
| 11 | Fractures,hydrothermal alterations and permeability in the SoultzEnhanced Geothermal System显示文摘 | Ledésert B Hebert R Genter A | 2010 | Comptes RendusGeoscience2010，342，7： | 1 |
| 12 | Global cancer statistics 显示文摘 | Jemal A Bray F Genter MM | 2011 | CA Cancer J Clin2011，61，2： | 1 |
| 13 | Observations on gray leaf spot of maize in Virginia显示文摘 | Roane C W Harrison R I Genter C F | 1974 | Plant Disease Reporter1974，58，： | 1 |
| 14 | relation of serum acid to mortality and ischemic heart disease: The NHANESI Epidemiologic Follow-up study显示文摘 | Freedman DS Williamson DF Genter EW | 1995 | AMJ J Epidemiol1995，141，： | 1 |
| 15 | Role of CYP2A5 and 2G1 in acetaminophen metabolism and toxicity in the olfactory mucosa of the CYPla2( - / - ) mouse显示文摘 | Genter MB Liang HC Gu J | 1998 | Biochem Pharmacol1998，55，11： | 1 |
| 16 | Primary alcohols in a ring structure:quantifying enantioselectivity of Pseudomonas cepacia lipase by an in silico assay显示文摘 | Schmid DR Pleiss J | 2002 | Colloid Surf B2002，26，： | 1 |
| 17 | Scale effects in natural fracture networks显示文摘 | Genter A Chilès J P | 1997 | International Journal of Rock Mechanics and Mining Sciences & Geomechanics Abstracts1997，34，34： | 1 |
| 18 | Geophone array formation and semblance evaluation显示文摘 | Craig M S Genter R L | | 0，，01： | 1 |
| 19 | Relation of serum uric acidto morality and ischmic heart disease: The NHANES I Epidemiologic Follow - up Study 显示文摘 | Freedman DS Williamson DF Genter EW | 1995 | AMJEpidimiol1995，141，7： | 1 |
| 20 | Pyrrole oxidation and protein cross-linking as necessary steps in the development of gamma-diketone neuropathy显示文摘 | Genter St Clair MB Amarnath V Moody MA | 1988 | Chem Res Toxicol1988，1，： | 1 |
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