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| 遗传性先天无虹膜患者的PAX6基因新突变(c.1286delC) | |
| 引用本文： | 孙大光,阳菊华,童绎,赵广健,马旭.遗传性先天无虹膜患者的PAX6基因新突变(c.1286delC)[J].遗传,2008,30(10):1301-1306. |
| 作者姓名： | 孙大光 阳菊华 童绎 赵广健 马旭 |
| 作者单位： | 1. 北京协和医学院研究生院,北京,100730;国家人口计生委科学技术研究所遗传学研究室,北京,100081 2. 国家人口计生委科学技术研究所遗传学研究室,北京,100081;福建医科大学医药生物工程中心,福州,350004 3. 福建医科大学附属第一医院眼科,福州,350005 4. 福州东南眼科医院,福州,350009 5. 北京协和医学院研究生院,北京,100730;国家人口计生委科学技术研究所遗传学研究室,北京,100081;世界卫生组织人类生殖研究合作中心,北京,100081 |
| 基金项目： | 科技部科技基础条件平台建设计划 |
| 摘 要： | 摘要: 为了研究遗传性先天无虹膜(Hereditary congenital aniridia)患者发病的分子遗传学机制, 采用PCR扩增PAX6基因编码区的11个外显子(exon 4-13)及外显子和内含子相连接的区域、PCR产物直接测序的方法对1个遗传性先天无虹膜家系的所有成员进行了遗传突变分析。结果表明, 在家系中两个患者的PAX6基因exon 11均存在c. 1286delC新突变。此单个碱基的缺失造成了移码突变, 导致肽链自309位氨基酸开始产生一段含55个氨基酸的异常肽段, 并产生提前终止密码子(Premature termination codon, PTC), 使PAX6蛋白羧基端的59个氨基酸缺失。另外, 通过PCR-RFLP分析的方法对家系中所有正常成员和50名中国汉族健康对照个体基因组DNA进行分析均未检测到该突变。 |
| 关 键 词： | 遗传性先天无虹膜 PAX6基因 家系 突变 |
| 收稿时间： | 2008-04-30 |
| 修稿时间： | 2008-07-03 |
A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia |
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| SUN Da-Guang,YANG Ju-Hua,TONG Yi,ZHAO Guang-Jian,MA Xu.A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia[J].Hereditas,2008,30(10):1301-1306. | |
| Authors: | SUN Da-Guang YANG Ju-Hua TONG Yi ZHAO Guang-Jian MA Xu |
| Abstract: | Abstract: To study the molecular genetic mechanism of hereditary congenital aniridia, the entire coding exons (exon 4–13) of PAX6 gene and the flanking exon-intron junctions were amplified through PCR from the genomic DNA of all the two patients in a Chinese family with aniridia. PCR products were purified from agarose gel and sequenced. In both patients, a novel deletion mutation (c. 1286delC) in exon 11 was identified. Compared with the normal product of PAX6 gene, this mutation caused frame shifting, and generated a novel 55 amino acid peptide from codon 309. This deletion also resulted in a premature termination codon (PTC) and preterminated peptide synthesis. Meanwhile, this mutation was absent in all the unaffected family members and 50 normal control individuals through PCR-RFLP. |
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