无眼/小眼患者STRA6和SKI序列变异的鉴定
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刘建军，刘建军，刘建军，张建军，张建军
无眼/小眼患者STRA6和SKI序列变异的鉴定
生物化学学报，2008;14:24 - 24。Epub 2008 12月26日。
- PubMed ID
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19112531 (PubMed视图］
- 摘要
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摘要目的:眼无和小眼(A/M)是一种罕见的先天性眼部畸形，表现为眼睛成分缺失或眼睛小，伴有或不伴有结构异常。A/M可以是孤立的或综合征性的。维甲酸基因6 (STRA6)和斯隆-凯特林病毒致癌基因同源基因(SKI)刺激的基因参与维生素A代谢，并与人类和动物的A/M发育异常有关。维生素A的代谢对眼睛的正常发育和生长至关重要。本研究探讨了这些基因在a /M受试者队列中的关联。方法:对18例A/M患者的基因组DNA样本进行直接测序，筛选STRA6和SKI序列变异。初步筛选了4个外部不相关对照的DNA样本。筛选了另外89个不相关的对照，以确认在受影响的受试者DNA样本中发现的任何序列变异都与表型有关。编码区、内含子-外显子边界和非翻译区采用标准技术测序。将获得的DNA序列与公共基因组数据库中已知的参考序列进行比较。 RESULTS: For STRA6, a novel coding non-synonymous sequence variant was found in one subject, resulting in an amino acid change from glycine to glutamic acid in residue 217. One novel nonsense sequence variant found in the same subject changed the STRA6 amino acid residue 592 from cytosine to thymine resulting in a premature stop codon. For SKI, a known coding non-synonymous sequence variant (rs28384811) was found in 3 subject DNA samples and 11/89 control DNA samples. Four novel coding-synonymous sequence variants were observed in SKI. CONCLUSIONS: The STRA6 sequence variants reported in this study could play a role in the pathogenesis of A/M by structural changes to the STRA6 protein. We can attribute 4% A/M incidence in this cohort to these sequence variants. Although no SKI sequence variants were found in this cohort, SKI should not be ruled out as a candidate gene for A/M due to the small cohort size.