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目的 筛查视网膜特异性表达簇样蛋白 1( clusterin- like protein 1,CL UL 1)基因编码区域变异与中国高度近视人群的相关性。方法 采用 PCR- SSCP检测 2 0 4例中国人高度近视先证者 CL U L1基因所有编码外显子及两侧序列有无突变 ;对有突变的外显子区域进行克隆测序。结果 仅发现 1例患者在 CL U L1基因外显子 2的密码子 10第 3个核苷酸 GT G→ GT T杂合同义突变 ,没有氨基酸的改变 ( Val10 Val)。CL UL1基因其余外显子无突变和多态现象。结论 初步排除位于 18p11.3D18S6 3～ D18S5 2 0 .8c M范围内视网膜特异表达的 CL U L 1基因与中国高度近视人群的相关性 ;CL UL 1基因在中国人群中突变罕见
Objective To screen the correlation between the coding region of CL UL 1 gene and the Chinese population with high myopia. Methods PCR-SSCP was used to detect the presence or absence of mutations in all coding exons and CLU L1 in 204 Chinese myopia probands. The mutated exon regions were cloned and sequenced. Results Only one patient was found to have a synonymous mutation of the third nucleotide GT G → GT T at codon 10 of exon 2 of CL U L1 gene with no change of amino acid (Val10 Val). The rest of the CL UL1 gene has no mutations and polymorphisms. Conclusion The association of CL U L 1 gene, which is located in the retina of 18p11.3D18S6 3 ~ D18S5 20 0.8c, with a high degree of myopia in China is initially excluded. CL UL 1 gene mutation is rare in Chinese population