排除视网膜特异性表达簇样蛋白1基因变异与中国高度近视人群的相关性

To exclude the variation of mutations of clusterin-like protein 1gene in Chinese high myopia patients

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

Objective To screening the variations of clusterin like protein 1 (CLUL1) gene in encoding sequence in Chinese high myopia patients.Methods Genomic DNA was collected from 204 probands with high myopia (≥-6.0 D). The coding sequences of CLUL1 gene in 204 subjects were analyzed by exon by exon PCR heteroduplex SSCP analysis and sequencing.Results It was found only one heterozygous synonymous mutation of CLUL1 gene codon10(GT G → GT T , Val10Val) in one patient with high myopia.It was not found other variations of CLUL1 gene in encoding sequences in Chinese high myopia patients.Conclusion We found no evidence that mutations in the CLUL1 gene on chromosome 18p11.3 which expressed high in retina were responsible for the high myopia in Chinese; The variation of CLUL1 gene in Chinese population is very rare.