Chen Jing, Zhu Jianfang
Department of Pediatric Rheumatology and Immunology, Wuhan Women and Children's Health Center, Wuhan, Hubei 430015, China; Central Laboratory, Union Hospital Affiliated to Tongji Medical College, Hua Zhong University of Science and Technology, Wuhan, Hubei 430022, China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):523-5. doi: 10.3760/cma.j.issn.1003-9406.2016.04.022.
To investigate the mutation of PAX6 gene in a Chinese family affected with congenital aniridia.
Blood samples were drawn from family members, and DNA was analyzed by direct sequencing.
A heterozygous mutation (c.151 G>A) was identified in the PAX6 gene in the proband and other patients from the family. The same mutation was not found among unaffected family members and 160 unrelated healthy controls.
A novel mutation in the PAX6 gene has been identified in a Chinese family affected with aniridia.
研究一个患有先天性无虹膜的中国家系中PAX6基因的突变情况。
采集家系成员的血样，采用直接测序法分析DNA。
在该家系的先证者及其他患者中，PAX6基因鉴定出一个杂合突变（c.151 G>A）。在未患病的家系成员及160名无关健康对照中未发现相同突变。
在一个患有无虹膜的中国家系中鉴定出PAX6基因的一个新突变。
