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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IVS158～59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(Codon56GCC→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。
In order to investigate the correlation between ZFP161 gene and high myopia and to search for a high degree of myopathic causative genes, 204 cases of simple Chinese myopia from China with high myopia from different regions and families and 116 normal subjects with high myopia and related diseases were excluded as Materials, PCR SSCP method was used to detect the presence or absence of gene mutation in ZFP161 gene exon 2 in the genomic DNA of the peripheral blood leukocytes of the case group and the normal group. The mutation region was identified after cloned and sequenced, Family analysis identified the association of ZFP161 mutations with high myopia. The results showed that: 1 Insertion mutation of AT sequence before intron 58 of ZFP161 gene, namely IVS158 ~ 59 mutation (1/204), exists only in high myopia proband; 2 ZFP161 gene is significant Subunit 2 of base 168 was Cverted to A, ie the Ala56Ala mutation (Codon56GCC → GCA, Ala56Ala) (5/204), which is present in the normal population (3/116) and also in patients with normal Relatives; combined with normal control and pedigree analysis, initially ruled out the association between ZFP161 gene and simple high myopia in China.