糖尿病合并先天性无虹膜症家系存在PAX6基因无义突变
发布时间：2018-08-04 08:34
【摘要】：目的探讨1个糖尿病合并无虹膜症家系成员的基因缺陷及其临床特点。方法收集1个糖尿病合并无虹膜症家系的4名患者和2名健康亲属的外周血标本,提取基因组DNA,针对人类配对盒基因(PAX6)4~13外显子设计引物,采用聚合酶链反应结合直接测序法(PCR-Sequencing)分析PAX6基因编码序列有无异常。结果在糖尿病和糖耐量异常合并无虹膜症患者中发现PAX6基因Arg240X杂合无义突变。结论 PAX6基因Arg240X无义突变可能通过影响胰岛素基因的转录,导致胰岛素分泌减少所致的糖代谢异常,同时也可能导致先天性遗传性无虹膜症的发生。
[Abstract]:Objective to investigate the gene defect and clinical features of a family member with diabetes mellitus and aniris disease. Methods Peripheral blood samples from 4 patients with diabetes mellitus without iris disease and 2 healthy relatives were collected and genomic DNAs were extracted. Primers were designed for exon 413 of human paired box gene (PAX6). Polymerase chain reaction (PCR) combined with direct sequencing (PCR-Sequencing) was used to analyze the abnormal coding sequence of PAX6 gene. Results PAX6 gene Arg240X heterozygosity was found in patients with diabetes mellitus, impaired glucose tolerance and aniris. Conclusion the Arg240X nonsense mutation of PAX6 gene may affect the transcription of insulin gene and lead to abnormal glucose metabolism due to the decrease of insulin secretion, and may also lead to the occurrence of congenital aniris.
【作者单位】： 武汉大学中南医院眼科;武汉大学中南医院临床基因诊断中心;
【基金】：湖北省计划生育委员会项目(JS-2011007)
【分类号】：R587.1;R773.1
本文编号：2163251
[Abstract]:Objective to investigate the gene defect and clinical features of a family member with diabetes mellitus and aniris disease. Methods Peripheral blood samples from 4 patients with diabetes mellitus without iris disease and 2 healthy relatives were collected and genomic DNAs were extracted. Primers were designed for exon 413 of human paired box gene (PAX6). Polymerase chain reaction (PCR) combined with direct sequencing (PCR-Sequencing) was used to analyze the abnormal coding sequence of PAX6 gene. Results PAX6 gene Arg240X heterozygosity was found in patients with diabetes mellitus, impaired glucose tolerance and aniris. Conclusion the Arg240X nonsense mutation of PAX6 gene may affect the transcription of insulin gene and lead to abnormal glucose metabolism due to the decrease of insulin secretion, and may also lead to the occurrence of congenital aniris.
【作者单位】： 武汉大学中南医院眼科;武汉大学中南医院临床基因诊断中心;
【基金】：湖北省计划生育委员会项目(JS-2011007)
【分类号】：R587.1;R773.1
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