摘要： 为了探讨ZFP161基因与高度近视的相关性，从而寻找高度近视的致病基因，以来自不同地区和家系的中国单纯性高度近视先证者204例和排除高度近视及相关疾病的正常人116例为材料，采用PCR-SSCP法检测病例组及正常人群外周血白细胞基因组DNA中ZFP161基因2个外显子是否存在基因突变，对存在突变的外显子区域经克隆测序后确定变异性质，结合对照组及家系分析确定ZFP161基因突变与高度近视的相关性。结果表明：1.ZFP161基因内含子1第58号碱基前存在AT序列插入突变，即IVS1 58～59突变(1/204)，该突变仅存在于高度近视先证者中；2.ZFP161基因外显子2的第168号碱基由C颠换为A，即Ala56Ala突变(Codon56 GCC→GCA, Ala56Ala)(5/204)，该突变存在于正常人群中（3/116），亦存在于患者的正常亲属中；结合正常对照和家系分析，初步排除ZFP161基因与中国单纯性高度近视之间的相关性。Abstract: To investigate the association between variations of ZFP161 gene and high myopia, A total of 204 probands with simple high myopia(≤-6.0 dipoters) were collected while 116 normal persons from different families without high myopia or related disease were used as controls. Genomic DNA was prepared from the peripheral leucocytes. The coding sequences of ZFP161 gene in 320 subjects were analyzed by using exon-by-exon PCR-heteroduplex-SSCP analysis. Identification of the Variations by cloning and sequencing, combinated with controls and family analysis, was used to disclose the correlation between ZFP161 gene and high myopia. A mutation of ZFP161 gene was identified as an insertion of AT before the 58th nucleotide of intron 1 (IVS1 58-59)(1/204) and a variation of ZFP161 gene was identified as a heterozygous C to A of the 168th nucleotide in exon 2 (Codon56, GCC→GCA, Ala56Ala). Ala56Ala is a non-sense mutation identified in 5 of the 204 patients and 3 of 116 controls. No evidence shows that these variations are responsible for high myopia.