Eight Mutation Analysis Of ZNF644in Chinese Han (chenzhou) Family With High Myopia

Objective: High Myopia as known as Pathological Myopia or Malignant myopia,Refers to the diopter for more than-6.00D, accompanied with high axial extended arefractive error, which is one of the key causes of blindness. The crowd of highmyopia prevalence is very high, about1%or less, genetic factors played a leadingrole of pathogenic. Although scientists have done numerous research on high myopia,they still haven’t find effective methods to prevent high myopia, so the furtherresearch of high myopia disease genes have important significance. Researchersreported that the Chinese han nationality (Sichuan) an family of high myopia isassociated with ZNF644gene mutation, they are in a high myopia genealogy on thezinc finger protein644gene exon6kinds of mutations were identified. Foreignscholars have found two new single nucleotide mutation. This study is to adopt the labestablish Pfu high-fidelity enzyme combined with double glucosinolates modifiedprimer test in China (Chenzhou District, Hunan Province) a high myopia familymembers ZNF6448types of common mutations in genes for testing and exploring itsrelation.Methods:1. Nine members are in the genealogy to slit lamp examination,intraocular pressure check, enlarge pupil optometry, retinal examination, in order toclarify a diagnosis.2. Family members of the clinical examination of information collection,gathering the six patients and6in the line of normal peripheral blood and extract itsgenomic DNA.3. Adopts the Pfu high-fidelity enzyme combined with the double sulfurmodified primer for ZNF644of this family of high myopia patients with common8 types of mutations in the gene detection.4. A gene sequencing further verify the resultResults:1. The length of optic axis in six patients with myopia>24mm, five adultswith myopic degree>15.00D eyes, all accompanied by fundus change: myopia arc,leopard, choroid atrophy.6years old children in the line of eye myopic degree acuity5.50D, fundus change: myopia arc, leopard grain.2. This experiment testing eight ZNF644gene loci are wild type, and theresults are validated by gene sequencing further.Conclusion:1. This experiment in the6patients with myopia in the line ofophthalmic examination and clinical manifestations are accord with hereditary changehigh myopia.2.This experiment detected eight ZNF644gene loci are wild type, nomutation has detected.3..ZNF644genes may also exist other undiscovered mutationtypes;there could be other genes have a relationship with high myopia, thus furtheranalysis of the whole genome sequencing.