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Mutation analysis of PAX6 gene in a large Chinese family with aniridia
Song, SJ; Liu, YZ; Cong, RC; Jin, Y; Hou, ZQ; Ma, ZZ; Ren, GC; Li, LS
关键词aniridia PAX6 gene mutation analysis
刊名CHINESE MEDICAL JOURNAL
2005-02-20
118期:4页:302-306
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Medicine, General & Internal
研究领域[WOS]General & Internal Medicine
关键词[WOS]MISSENSE MUTATIONS ; PAIRED-DOMAIN ; MALFORMATIONS
英文摘要

Background Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia.

Methods Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers ( D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction ( PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation.

Results Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA).

Conclusions Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.

语种英语
WOS记录号WOS:000227511600006
引用统计
被引频次:7[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/63004
专题基础医学院_北京大学干细胞研究中心
作者单位1.Peking Univ, Hosp 3, Ctr Eye, Beijing 100083, Peoples R China
2.Peking Univ, Stem Cell Res Ctr, Beijing 100083, Peoples R China
3.Cent Hosp Chaoyang City, Chaoyang 122000, Peoples R China
推荐引用方式
GB/T 7714
Song, SJ,Liu, YZ,Cong, RC,et al. Mutation analysis of PAX6 gene in a large Chinese family with aniridia[J]. CHINESE MEDICAL JOURNAL,2005,118(4):302-306.
APA Song, SJ.,Liu, YZ.,Cong, RC.,Jin, Y.,Hou, ZQ.,...&Li, LS.(2005).Mutation analysis of PAX6 gene in a large Chinese family with aniridia.CHINESE MEDICAL JOURNAL,118(4),302-306.
MLA Song, SJ,et al."Mutation analysis of PAX6 gene in a large Chinese family with aniridia".CHINESE MEDICAL JOURNAL 118.4(2005):302-306.
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