摘要
目的分析中国部分地区非综合征型耳聋患者GJB2基因233～235delC的突变频率.方法收集广东、广西、河南、河北、山西、黑龙江、吉林、内蒙古等地区聋哑学校91 7例非综合征型耳聋患者的血样,正常对照204例,提取DNA后经聚合酶链反应扩增GJB2基因编码区,用酶切方法分析已知233～235位点的C缺失突变,对各地区233～235delC的突变频率进行统计.结果917例患者中156例（17.01%）发现有233～235delC突变,其中纯合突变69例（7.52%）,杂合突变87例（9.49%）.正常对照204例,发现杂合突变2例（0.98%）,未发现纯合突变.各地区233～235delC突变检出率不同,内蒙古25.18%,河北23.19%,吉林18.97%,山西18.08%,黑龙江17.78%,河南15.09%,广东13.02%,广西6.59%.结论中国各地区聋儿中233～235delC为GJB2基因突变热点,与听力正常儿童存在显著的统计学差异（x2=35.422,P＜0.001）;南北方地域差异较大,不同地区人群233～235delC发病频率不同,地区间的突变频率存在显著的统计学差异（x2=17.998,P＜0.05）.
OBJECTIVE To determine the prevalence of the GJB2 233-235deIC mutation in nonsyndromic hearing impairment（NSHI）patients from China. METHODS Subjects include 917 students randomly selected from the Deaf and Mute Schools of Guangdong, Guangxi, Henan, Hebei, Shanxi, Heilongjiang, Jilin and Inner Mongolia. Peripheral blood samples were obtained and DNA templates were extracted by extraction kits. Using polymerase chain reaction（PCR）,the coding region of the GJB2 gene was amplified. Mutations were detected by restriction endonuclease. RESULTS 233-235deIC was found in 156 cases （17.01%）. Sixty-nine cases（7.52 %）were homozygous and 87 cases（9.49 %）were heterozygous. The detection rate differs in the subjects from different regions： Inner Mongolia（25.18 %）,Hebei （23.19 %）,Jilin （18.97 %）, Shanxi （18.08 %）,Heilongjiang（17.78 %）, Henan（15.09%）, Guangdong（13.02 %）,Guangxi（6.59 %）. CONCLUSION The hot spot of GJB2 gene mutations in Chinese nonsyndromic hearing impairment patients is 233N235 deIC. The incidence rate is 17.01% and is different in different regions. All differences are statistically signiflcant（x^2 =17.998,P〈0.05）.
出处
《中国耳鼻咽喉头颈外科》
北大核心
2006年第4期223-226,共4页
Chinese Archives of Otolaryngology-Head and Neck Surgery
基金
国家863课题资助项目(2004AA221080)
国家自然科学基金资助项目(30572015)
关键词
基因
突变
听力受损者
Genes
Mutation
Hearing Impaired Persons
