中华检验医学杂志
中華檢驗醫學雜誌
중화검험의학잡지
CHINESE JOURNAL OF LABORATORY MEDICINE
2010年
11期
1083-1087
,共5页
陈俞%玛依拉·吐地%张华%孙捷%皮力东·库亚西
陳俞%瑪依拉·吐地%張華%孫捷%皮力東·庫亞西
진유%마의랍·토지%장화%손첩%피력동·고아서
聋%连接蛋白类%膜转运蛋白类%RNA,核糖体%突变%寡核苷酸序列分析
聾%連接蛋白類%膜轉運蛋白類%RNA,覈糖體%突變%寡覈苷痠序列分析
롱%련접단백류%막전운단백류%RNA,핵당체%돌변%과핵감산서렬분석
Deafness%Connexins%Membrane transport proteins%RNA,ribosomal%Mutation%Oligonucleotide array sequence analysis
目的 筛查分析新疆维吾尔族和汉族非综合征性耳聋患者中4个耳聋基因的9个位点的突变携带分布状况,以探讨维吾尔族耳聋患者常见耳聋基因突变的特点.方法 通过耳鼻咽喉科专科检查和听力检测,选取维吾尔族非综合征性耳聋患者184例,汉族非综合征型耳聋患者133例,用耳聋基因芯片对4个耳聋基因GJB2、GJB3、mtDNA12S rRNA、SLC26A4常见的9个突变位点35delG、176del16、235delC、299-300delAT、538C＞T、1555A＞G、1494C＞T、2168A＞G、IVS7-2A＞G进行检测分析.结果 维吾尔族与汉族耳聋患者4个耳聋基因的9个位点总突变携带率分别为12.50%、30.83%,维吾尔族低于汉族,且差异有统计学意义(λ2=16.092,P＜0.01);GJB2在维吾尔族和汉族耳聋患者突变率分别为9.24%、14.29%,但2个民族间的差异无统计学意义(λ2=1.953,P＞0.05);SLC26A4在维吾尔族和汉族耳聋患者中的突变率分别为1.63%、13.53%,差异有统计学意义(λ2=17.683,P＜0.01);mtDNA 12S rRNA在维吾尔族和汉族耳聋患者中的突变率分别为1.63%、3.01%,差异亦无统计学意义(λ2=0.175,P＞0.05);GJB3在2个民族中的携带率均低,分别为0.75%、0.结论 维吾尔族耳聋患者常见耳聋基因突变率较低,其中SLC26A4基因突变率明显低于汉族;GJB2仍是维吾尔族耳聋患者最常见的突变基因,235delC和35delG为其热点突变.
目的 篩查分析新疆維吾爾族和漢族非綜閤徵性耳聾患者中4箇耳聾基因的9箇位點的突變攜帶分佈狀況,以探討維吾爾族耳聾患者常見耳聾基因突變的特點.方法 通過耳鼻嚥喉科專科檢查和聽力檢測,選取維吾爾族非綜閤徵性耳聾患者184例,漢族非綜閤徵型耳聾患者133例,用耳聾基因芯片對4箇耳聾基因GJB2、GJB3、mtDNA12S rRNA、SLC26A4常見的9箇突變位點35delG、176del16、235delC、299-300delAT、538C＞T、1555A＞G、1494C＞T、2168A＞G、IVS7-2A＞G進行檢測分析.結果 維吾爾族與漢族耳聾患者4箇耳聾基因的9箇位點總突變攜帶率分彆為12.50%、30.83%,維吾爾族低于漢族,且差異有統計學意義(λ2=16.092,P＜0.01);GJB2在維吾爾族和漢族耳聾患者突變率分彆為9.24%、14.29%,但2箇民族間的差異無統計學意義(λ2=1.953,P＞0.05);SLC26A4在維吾爾族和漢族耳聾患者中的突變率分彆為1.63%、13.53%,差異有統計學意義(λ2=17.683,P＜0.01);mtDNA 12S rRNA在維吾爾族和漢族耳聾患者中的突變率分彆為1.63%、3.01%,差異亦無統計學意義(λ2=0.175,P＞0.05);GJB3在2箇民族中的攜帶率均低,分彆為0.75%、0.結論 維吾爾族耳聾患者常見耳聾基因突變率較低,其中SLC26A4基因突變率明顯低于漢族;GJB2仍是維吾爾族耳聾患者最常見的突變基因,235delC和35delG為其熱點突變.
목적 사사분석신강유오이족화한족비종합정성이롱환자중4개이롱기인적9개위점적돌변휴대분포상황,이탐토유오이족이롱환자상견이롱기인돌변적특점.방법 통과이비인후과전과검사화은력검측,선취유오이족비종합정성이롱환자184례,한족비종합정형이롱환자133례,용이롱기인심편대4개이롱기인GJB2、GJB3、mtDNA12S rRNA、SLC26A4상견적9개돌변위점35delG、176del16、235delC、299-300delAT、538C＞T、1555A＞G、1494C＞T、2168A＞G、IVS7-2A＞G진행검측분석.결과 유오이족여한족이롱환자4개이롱기인적9개위점총돌변휴대솔분별위12.50%、30.83%,유오이족저우한족,차차이유통계학의의(λ2=16.092,P＜0.01);GJB2재유오이족화한족이롱환자돌변솔분별위9.24%、14.29%,단2개민족간적차이무통계학의의(λ2=1.953,P＞0.05);SLC26A4재유오이족화한족이롱환자중적돌변솔분별위1.63%、13.53%,차이유통계학의의(λ2=17.683,P＜0.01);mtDNA 12S rRNA재유오이족화한족이롱환자중적돌변솔분별위1.63%、3.01%,차이역무통계학의의(λ2=0.175,P＞0.05);GJB3재2개민족중적휴대솔균저,분별위0.75%、0.결론 유오이족이롱환자상견이롱기인돌변솔교저,기중SLC26A4기인돌변솔명현저우한족;GJB2잉시유오이족이롱환자최상견적돌변기인,235delC화35delG위기열점돌변.
Objective To investigate the prevalence and frequency of the common mutations in Uigur non-syndromic deafness group in Xinjiang Uigur Autonomous Region of China, by means of screening nine mutations of four known deafness genes. Methods One hundred eighty-four Uigur patients and 133 Han patients with non-syndromic hearing loss were enrolled in this study. The screening was performed on GJB2, GJB3, mtDNA 12S rRNA and SLC26A4 deafness genes of 35delG, 176de116,235de1C ,299-300delAT,538C ＞ T, 1555A ＞ G, 1494C ＞ T,2168A ＞ G, IVS7-2A ＞ G in these two groups, by means of genic microarray. Results The totlal mutation rate found in the Uigur deafness groups was 12. 50%, significantly different from that in the Han deafness groups (30. 83% ,χ2 = 16. 092 ,P ＜0. 01 ). The GJB2 mutation rate in the Uigur deafness groups was 9. 24%, not significantly different from that in the Han deafness groups ( 14. 29% ,χ2 = 1. 953 ,P ＞0. 05 ). The mutation rate of SL C26A4 was 1.63% and 13.53% respectively in Uigur and Han deafness groups, and has significant difference (χ2 = 17. 683, P ＜ 0. 01 ). The mt DNA 12S rRNA mutation rate in the Uigur deafness groups was 1.63%, not significantly different from that in the Han deafness groups (3.01%, χ2 = 0. 175, P ＞ 0. 05 ). The GJB3 mutation rate of these two deafness groups was very low, shown as 0. 75% and 0 respectively. Conclusions The mutation rate of common deafness genes is lower in the Uigar nonsyndromie deafness group, and the mutation rate of SLC26A4 genes is significantly lower than that in the Han deafness groups. The most common mutation in four known deafness genes is GJB2, whose favorite spots are 235delC and 35delG.
