prevalence of the gjb2 mutations in deafness patients of different ethnic origins in xinjiang-中国期刊网

摘要 ObjectiveToinvestigateGJB2mutationprevalencesintheUigurandHanethnicgroupsinXinjiang,China,anddeterminetherelationshipbetweenethnicityandGJB2genemutations.MethodsInformationregardingethnicityofpatients'familieswasobtainedthroughmedicalrecordsreviewand/orpatientinterview.Bloodsampleswerecollectedfrom61Uigursand66Hansfordirectsequencingofthecodingregionandintron/exonboundariesoftheGBJ2gene.ResultsCarrierfrequencyofGJB2mutationswassimilarbetweentheUigurandHansubjects.TheGJB235delGmutationwasseenonlyinUigurpatientswithhearingloss,whereasthe235delCmutationwasidentifiedinbothUigurandHanpatients.TheallelicFrequencyof35delGmutationwas7.4%(9/122)inUigurdeafstudents,butnoneinHandeafstudents(0/128)andUigurcontrols(0/196).TheallelicfrequencyofGJB2235delCmutationinUigurandHandeafstudentswas5.7%and9.8%,andthatof299-300delATmutationwas0.8%and5.5%,respectively.V27IandE114Gwerethemostfrequenttypesofpolymorphism.ConclusionWefoundanAsian-specificGJB2diversityamongUigurs,andcomparableGJB2contributiontodeafnessinUigurandHanpatients.Thehighcarrierfrequencyof35delGinUigurs(11.5%)isprobablydefinedbygenedrift/foundereffectinaparticulargroup.EventhoughGJB2mutationshavebeenwidelyreportedintheliterature,thisdiscussionrepresentsthefirstreportofGJB2mutationsinChinesemulti-ethnicpopulations.

1. screening of gjb2 mutations in chinese population.耳鼻咽喉科,2007-01.
2Hao Jiang;Xi Shi;Shiwei Qiu;Yanfen Dong;Yuehua Qiao;Dongzhi Wei. A screening analysis of the GJB2 c.176 del 16 mutation responsible for hereditary deafness in a Chinese family.耳鼻咽喉科,2016-03.
3王辉兵;于飞;戴朴;韩东一. GJB2结构功能及致病机制研究.耳鼻咽喉科,2013-01.
4ZHENG Jing;JI Yan-chun;GUAN Min-Xin. Mitochondrial tRNA mutations associated with deafness.耳鼻咽喉科,2012-01.
5刘增林;李碧(摄影);段会香(翻译). Origins of the Names of Chinese Ethnic Minorities.历史学,2013-01.
6刘增林;李碧(图);郭小华(翻译). The origins of the Ethnic Names in China （II）.历史学,2012-02.
7刘增林;李碧;陈子博. The Origins of the Ethnic Names in China （I）.历史学,2012-01.
8Ge Hong-Liang,Chen Xiao-Yong,Lin Yuan-Xiang,Ge Ting-Juan,Yu Liang-Hong,Lin Zhang-Ya,Wu Xi-Yue,Kang De-Zhi,Ding Chen-Yu. The prevalence of freezing of gait in Parkinson’s disease and in patients with different disease durations and severities.医药卫生,2020-08.
9. gjb2 mutation spectrum in deaf population in a typical southeastern area of china.耳鼻咽喉科,2006-02.
10刘增林;李碧(摄影);章思英(翻译). Origins of the Names of Chiua＇s Ethnic Minorities （Ⅲ）.历史学,2012-04.

prevalence of the gjb2 mutations in deafness patients of different ethnic origins in xinjiang

来源期刊

相关推荐

同分类资源更多

相关关键词

prevalence of the gjb2 mutations in deafness patients of different ethnic origins in xinjiang

来源期刊

相关推荐

同分类资源 更多

相关关键词

同分类资源更多