临床耳鼻咽喉头颈外科杂志
臨床耳鼻嚥喉頭頸外科雜誌
림상이비인후두경외과잡지
JOURNAL OF CLINICAL OTORHINOLARYNGOLOGY HEAD AND NECK SURGERY
2010年
1期
11-15
,共5页
李琦%方如平%黄德亮%王国建%刘新%戴朴
李琦%方如平%黃德亮%王國建%劉新%戴樸
리기%방여평%황덕량%왕국건%류신%대박
听力损失%基因诊断%线粒体DNA%A1555G%线粒体DNA%C1494T%SLC26A4IVS7-2%A》G%GJB2%基因突变
聽力損失%基因診斷%線粒體DNA%A1555G%線粒體DNA%C1494T%SLC26A4IVS7-2%A》G%GJB2%基因突變
은력손실%기인진단%선립체DNA%A1555G%선립체DNA%C1494T%SLC26A4IVS7-2%A》G%GJB2%기인돌변
hearing loss%genetic test%mtDNAA1555G%mtDNAC1494T%SLC26A4IVS7-2 A>G%GJB2%mutation
目的:分析中国新疆地区汉族和维吾尔族耳聋患者的常见耳聋基因突变,为该地区耳聋患者的临床基因诊断提供理论依据.方法:调查对象为新疆地区乌鲁木齐和库尔勒特教学校的125例耳聋患者,其中汉族64例,维吾尔族61例,听力检查全部为重度-极重度感音神经性聋.所有受检者均采集外周血并提取DNA,进行GJB2全序列、包含SLC26A4IVS7-2 A>G、线粒体DNA12S rRNA1494和1555位点的突变分析.结果:新疆地区汉族耳聋患者GJB2 35 delG和 SLC26A4IVS7-2的等位基因频率分别为7.4%和10.1%,维吾尔族耳聋人群未发现GJB2 35 delG和SLC26A4IVS7-2突变,两者比较差异有统计学意义.而GJB2 235 delC、299-300 delAT及线粒体DNA A1555G、C1494T维吾尔族和汉族比较差异无统计学意义.结论:新疆地区汉族和维吾尔族GJB2 35 delG和SLC26A4IVS7-2 A>G有不同的等位基因频率,新疆地区汉族和维吾尔族常见耳聋基因突变存在异同.
目的:分析中國新疆地區漢族和維吾爾族耳聾患者的常見耳聾基因突變,為該地區耳聾患者的臨床基因診斷提供理論依據.方法:調查對象為新疆地區烏魯木齊和庫爾勒特教學校的125例耳聾患者,其中漢族64例,維吾爾族61例,聽力檢查全部為重度-極重度感音神經性聾.所有受檢者均採集外週血併提取DNA,進行GJB2全序列、包含SLC26A4IVS7-2 A>G、線粒體DNA12S rRNA1494和1555位點的突變分析.結果:新疆地區漢族耳聾患者GJB2 35 delG和 SLC26A4IVS7-2的等位基因頻率分彆為7.4%和10.1%,維吾爾族耳聾人群未髮現GJB2 35 delG和SLC26A4IVS7-2突變,兩者比較差異有統計學意義.而GJB2 235 delC、299-300 delAT及線粒體DNA A1555G、C1494T維吾爾族和漢族比較差異無統計學意義.結論:新疆地區漢族和維吾爾族GJB2 35 delG和SLC26A4IVS7-2 A>G有不同的等位基因頻率,新疆地區漢族和維吾爾族常見耳聾基因突變存在異同.
목적:분석중국신강지구한족화유오이족이롱환자적상견이롱기인돌변,위해지구이롱환자적림상기인진단제공이론의거.방법:조사대상위신강지구오로목제화고이륵특교학교적125례이롱환자,기중한족64례,유오이족61례,은력검사전부위중도-겁중도감음신경성롱.소유수검자균채집외주혈병제취DNA,진행GJB2전서렬、포함SLC26A4IVS7-2 A>G、선립체DNA12S rRNA1494화1555위점적돌변분석.결과:신강지구한족이롱환자GJB2 35 delG화 SLC26A4IVS7-2적등위기인빈솔분별위7.4%화10.1%,유오이족이롱인군미발현GJB2 35 delG화SLC26A4IVS7-2돌변,량자비교차이유통계학의의.이GJB2 235 delC、299-300 delAT급선립체DNA A1555G、C1494T유오이족화한족비교차이무통계학의의.결론:신강지구한족화유오이족GJB2 35 delG화SLC26A4IVS7-2 A>G유불동적등위기인빈솔,신강지구한족화유오이족상견이롱기인돌변존재이동.
Objective:To investigate the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang region and determine the relationship between ethnicity and mutations.Method:DNA were extracted from peripheral blood of 125 deaf patients from Urumqi and Korla special educational schools in Xinjiang.Audiologic examinations showed that all patients had severe to profound bilateral sensorineural hearing hoss. The coding region of GJB2 gene, SLC26A4 and mitochondrial DNA target fragments were amplified by polymerase chain reaction(PCR).Mutations in GJB2 gene, SLC26A4IVS7-2 A>G, mtDNA 1494C>T and mtDNA1555 A>G were identified by sequencing analysis.Result:Allelic Frequency of the GJB2 35delG and SLC26A4IVS7-2 A>G mutations in Han deaf students were 7.4%and 10.1%,respectively, whereas not found in Uigur deaf groups.The difference was statistically significant. We did not find significant differences in GJB2 235 delC, 299-300delAT, mtDNA A1555G and C1494T allelic frequency between Uigur and Han students.Conclusion:Prevalence of the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang has a great diversity.
