CAJ | 학술논문

目的采用中国人群遗传性聋常见突变基因类型对新疆喀什地区耳聋人群进行筛查,探究新疆维吾尔族耳聋人群基因突变的检出率及其意义.方法选取维吾尔族非综合征性聋患者174例作为研究对象,通过病史采集,血样抽取和DNA提取后对所选样本的35delG、176-191del16、235delC、299-300delAT、2168A＞C(H723R)、IVS7-2A＞G、1555A＞G、1494C＞T进行检测,对于位点缺失样本进行序列测定.采用SPSS 17.0软件对数据进行统计学分析.结果 GJB2是主要的突变基因,187delG在维吾尔族耳聋人群中首次发现,也是新发现的GJB2基因的病理性突变;SLC26A4突变在维吾尔族耳聋人群中的检出率低,与对照组比较差异无统计学意义(x2=0.000,P=1.000);mtDNA 12S rRNA突变在维吾尔族耳聋人群中的检出率低,在对照组中未检出;20例有明确耳聋家族史的患者中17例未检出突变.结论维吾尔族耳聋人群耳聋基因常见突变有其特点,基因全序列分析和家系研究对丰富维吾尔族耳聋基因的突变谱是必要的.
목적 채용중국인군유전성롱상견돌변기인류형대신강객십지구이롱인군진행사사,탐구신강유오이족이롱인군기인돌변적검출솔급기의의.방법 선취유오이족비종합정성롱환자174례작위연구대상,통과병사채집,혈양추취화DNA제취후대소선양본적35delG、176-191del16、235delC、299-300delAT、2168A＞C(H723R)、IVS7-2A＞G、1555A＞G、1494C＞T진행검측,대우위점결실양본진행서렬측정.채용SPSS 17.0연건대수거진행통계학분석.결과 GJB2시주요적돌변기인,187delG재유오이족이롱인군중수차발현,야시신발현적GJB2기인적병이성돌변;SLC26A4돌변재유오이족이롱인군중적검출솔저,여대조조비교차이무통계학의의(x2=0.000,P=1.000);mtDNA 12S rRNA돌변재유오이족이롱인군중적검출솔저,재대조조중미검출;20례유명학이롱가족사적환자중17례미검출돌변.결론 유오이족이롱인군이롱기인상견돌변유기특점,기인전서렬분석화가계연구대봉부유오이족이롱기인적돌변보시필요적.
Objective To investigate the frequency of the mutations in Uyghur nonsyndromic deafness groups in Kashgar region of Xinjiang province by means of screening the common mutations of known deafness genes in China. Methods One hundred and seventy-four Uyghur patients with hearing loss were involved in this study. Questionnaire survey was conducted and peripheral blood samples were collected for polymerase chain reaction. Screening was performed for 35delG, 176-191del16, 235de1C, 299-300delAT, 1555A ＞ G, 1494C ＞ T, 2168A ＞ G and IVS7-2A ＞ G. DNA sequence analysis was performed for the samples with absent signals at some loci. SPSS 17.0 software was used to analyze the data. Results Mutation of GJB2 was the most common among the three known deafness genes. 187delG was found for the first time in Uyghur groups with hearing loss and was a new pathological mutation of GJB2. The mutation rate of SLC26A4 was low in the experimental group with no significant difference when compared with the control group. The mtDNA 12S rRNA mutation rate in the deaf group was low but not detected in the control group.In addition, mutations were not dectected in 17 cases among the 20 patients with positive family history.Conclusion The mutation rate and dominant mutation of Uyghur ethnic nonsyndromic deaf groups have their own characteristics, it is necessary to conduct a sequence analysis and a stemma studying for an aim of perfecting the mutation spectrum of Uyghur deafness gene.