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7例Goldenhar综合征患者SALL1和TCOF1基因突变检测 被引量：1

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摘要 目的探索Goldenhar综合征的致病原因。方法采集7例患者及其父母和正常同胞的详细临床资料和基因组DNA,PCR扩增SALL1和TCOF1的全部外显子及部分内含子,用直接双向测序、Blast比对进行突变分析。结果在SALL1发现了2个多态数据库已报道的单核苷酸多态;在TCOF1基因中发现了7个序列变异,其中6个已被报道为多态,1个为新发现的内含子突变。所有序列变异都存在于患者的正常亲属中,与疾病表型无共分离现象。结论排除了SALL1和TCOF1外显子突变导致此7例患者颜面畸形的可能性。
作者 黄雪霜 张黎 黄俊昌 谢雨芳 曾海涛 姜海鸥 肖玲 谭灿 张建湘
机构地区 中南大学湘雅医学院组织胚胎学系 怀化医学高等专科学校 河南省人民医院眼科 四川省南充市第五人民医院 广东省深圳市南山妇幼保健院新生儿科 中南大学生物科学与技术学院分子生物学研究中心 怀化医学高等专科学校遗传教研室
出处 《广东医学》 CAS CSCD 北大核心 2010年第3期306-309,共4页 Guangdong Medical Journal
关键词 GOLDENHAR综合征 SALL1基因 TCOF1基因 突变筛查
分类号 R782.2 [医药卫生—口腔医学]
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参考文献16

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共引文献10

同被引文献12

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广东医学
2010年 第3期

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