癌变·畸变·突变2012，Vol.24Issue(4)：295-297,301,4.DOI:10.3969/j.issn.1004-616x.2012.04.013
中国汉族高度近视一家系的ZNF644基因突变分析
Mutation analysis of ZNF644 in a Chinese Han family with high myopia
黄雪霜 1刘伟 2姜海鸥 1全庆丽 1申小青2
作者信息
- 1. 怀化医学高等专科学校遗传教研室,湖南怀化418000
- 2. 怀化医学高等专科学校附属医院暨怀化市第三人民医院,湖南怀化418000
- 折叠
摘要
Abstract
OBJECTIVE: Mutation in ZNF644 gene has been shown to be responsible for high myopia in a Chinese Han family (Sichuan). This present study was conducted to investigate whether ZNF644 is associated with high myopia in another Chinese Han family (Hunan). METHODS: The clinical data and genome DNA of five patients and two unaffected relatives of the family were collected with. Six exons of ZNF644, including intron/exon boundaries, were amplified by polymerase chain reaction (PCR) and the PCR products were subjected to automatic DNA sequencing. RESULTS: Five patients within the family were diagnosed with high myopia (refractive errors & 6. 00D) and some also showed detachment of retina or cataract. The visual acuity of the other relatives was normal and the family showed monogenic high myopia with a autosomal dominant inheritance model. Six SNP polymorphisms were found in this pedigree, which did not co-segregate with the disease phenotype in this family. CONCLUSION: Mutation in exons of ZNF644 is excluded as a pathogenic cause for high myopia, in this family.关键词
高度近视/ZNF644基因/突变分析Key words
high myopia/ZNF644 gene/mutation analysis分类
生物科学引用本文复制引用
黄雪霜,刘伟,姜海鸥,全庆丽,申小青..中国汉族高度近视一家系的ZNF644基因突变分析[J].癌变·畸变·突变,2012,24(4):295-297,301,4.
