›› 2012, Vol. 24 ›› Issue (4): 295-297,.doi: 10.3969/j.issn.1004-616x.2012.04.013

• 论著 • Previous Articles     Next Articles

Mutation analysis of ZNF644 in a Chinese Han family with high myopia

HUANG Xue-shuang;LIU Wei;JIANG Hai-ou;QUAN Qing-li;SHEN Xiao-qing   

  1. (1. Department of Medical Genetics, Huaihua School of Medicine, Huaihua 418000; 2. Affiliated Hospital, Huaihua School of Medicine, Huaihua 418000, Hunan, China)
  • Received:2012-05-11 Revised:2012-05-30 Online:2012-07-30 Published:2012-07-30
  • Contact: SHEN Xiao-qing

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