关键词: 高度近视, ZNF644基因, 突变分析

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.

Key words: high myopia, ZNF644 gene, mutation analysis