遗传 ›› 2008, Vol. 30 ›› Issue (10): 1301-1306.doi: 10.3724/SP.J.1005.2008.01301

• 研究报告 • 上一篇    下一篇

遗传性先天无虹膜患者的PAX6基因新突变(c.1286delC)

孙大光1, 2; 阳菊华2, 4; 童绎5; 赵广健6; 马旭1, 2, 3

  

  1. 1. 北京协和医学院研究生院, 北京 100730;
    2. 国家人口计生委科学技术研究所遗传学研究室, 北京 100081;
    3. 世界卫生组织人类生殖研究合作中心, 北京 100081;
    4. 福建医科大学医药生物工程中心, 福州 350004;
    5. 福建医科大学附属第一医院眼科, 福州 350005;
    6. 福州东南眼科医院, 福州 350009

  • 收稿日期:2008-04-30 修回日期:2008-07-03 出版日期:2008-10-10 发布日期:2008-10-10
  • 通讯作者: 马旭

A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia

SUN Da-Guang1, 2; YANG Ju-Hua2, 4; TONG Yi5; ZHAO Guang-Jian6; MA Xu1, 2, 3

  

  1. 1. Graduate School, Peking Union Medical College, Beijing 100730, China;
    2. Department of Genetics, National Research Institute for Family Planning, Beijing 100081, China;
    3. WHO Collaborative Center for Research in Human Reproduction, Beijing 100081, China;
    4. Biomedical Engineering Center of Fujian Medical University, Fuzhou 350004, China;
    5. Department of Ophthalmology, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China;
    6. Fuzhou Southeast Eye Hospital, Fuzhou 350009, China

  • Received:2008-04-30 Revised:2008-07-03 Online:2008-10-10 Published:2008-10-10
  • Contact: MA Xu

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: 家系, 突变, PAX6基因, 遗传性先天无虹膜

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.