【摘 要】
：
背景：通过对广西地区耳聋患者致病基因突变热点的筛查,了解该地区非综合征型耳聋突变谱系,并对明确病因的家庭进行再生育指导.方法：采集广西壮族自治区14个市聋哑学校及康复中心共1525例耳聋学生外周血并提取基因组DNA,用遗传性耳聋基因芯片分析4个耳聋相关基因中的9个热点突变,包括GJB2(c.35delG,c.176_191del16,c.235delC及c.299_300delAT),GJB3(5
【机 构】
：
柳州市出生缺陷预防与控制重点实验室,广西,柳州545001;柳州市妇幼保健院检验科,广西,柳州545001
论文部分内容阅读
背景：通过对广西地区耳聋患者致病基因突变热点的筛查,了解该地区非综合征型耳聋突变谱系,并对明确病因的家庭进行再生育指导.方法：采集广西壮族自治区14个市聋哑学校及康复中心共1525例耳聋学生外周血并提取基因组DNA,用遗传性耳聋基因芯片分析4个耳聋相关基因中的9个热点突变,包括GJB2(c.35delG,c.176_191del16,c.235delC及c.299_300delAT),GJB3(538C＞T),SLC26A4(c.919-2A＞G, c.2168A＞G)和线粒体DNA 12S rRNA(m.1494C＞T,m.1555A＞G).同时使用耳聋芯片结合Sanger测序的方法对需要再生育的夫妇进行产前诊断.结果：①在1525例耳聋患者中有209例检出GJB2基因、GJB3基因、SLC26A4基因和线粒体12SrRNA的变异,GJB2基因和SLC26A4基因分别占41.63％(87/209)和49.28％(103/209).其中,GJB2基因杂合突变35例,纯合与复合杂合突变52例；GJB3基因杂合突变1例；SLC26A4基因杂合突变79例,纯合与复合杂合突变24例；1 8例线粒体12S rRNA突变,1例m.1494C＞T和17例m.1555A＞G.②基因突变阳性检出率为13.70％(209/1525),可明确遗传病因患者检出率为6.16％(94/1525).③94个明确病因的家庭中,目前已有4对夫妇做了产前诊断,检测结果均显示胎儿仅携带一个父系或母系突变,或未携带任何已知突变,3个胎儿出生后随访听力正常,1个未出生.结论：耳聋患者热点突变基因以GJB2基因和SLC26A4基因最为常见,通过对耳聋患者致病基因热点突变的筛查,必要时进行产前诊断,可以有效降低人群耳聋的发生率预防耳聋家庭生育或者再生育耳聋.
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