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中文摘要：
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。
英文摘要：
Objective To explore the genetic defects and clinical characteristics of a family suffered from diabetes mellitus with aniridia. Methods The blood samples were collected from four patients and two unaffected members in a lineage of diabetic aniridia. The genomic DNA was extracted from the peripheral white blood cells. The PCR primers for amplification of exon 4 ~ 13 fragments of PAX6gene were designed based on the reference sequence. PCR and direct sequencing were used to screen abnormal mutations on the coding sequence of PAX6 gene,and the results were compared with the reference sequence to analyze the abnormalities of PAX6 gene. Result The Arg240X heterozygous mutation in PAX6 gene was found in the aniridia patients with diabetes or impaired glucose tolerance.Conclusion The mutation of Arg240X of PAX6 gene may not only affect the transcription of insulin gene,which lead to sugar metabolic abnormalities caused by a decreasing insulin secretion,but also result in the development of congenital hereditary aniridia.
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