作　　者： (李若男）; (郭昆全）;

机构地区： 湖北医药学院附属东风医院内分泌科,十堰442000

出　　处： 《中国糖尿病杂志》 2017年第8期691-696,共6页

摘　　要： 目的了解新诊断T2DM患者中铁过载发病状况,对12例新诊断T2DM合并铁过载患者(肝脏穿刺组织普鲁士蓝染色阳性)进行SLC40A1(NG_009027.1)基因测序并分析。方法收集2014年12月至2015年12月我院内分泌科新诊断T2DM患者共198例的病历资料,其中铁蛋白升高且行肝脏穿刺组织普鲁士蓝染色阳性患者12例,通过肝脏穿刺组织石蜡切片提取基因组DNA,采用PCR扩增SLC40A1基因各外显子片段,琼脂糖凝胶电泳确认、纯化后,双向直接测序。结果198例新诊断T2DM患者中铁过载发病率为6%;测序结果同GenBank中对应序列进行对比,12例新诊断T2DM合并铁过载患者SLC40A1基因第6个外显子区域均有1处碱基改变:c.663T>C,但其编码的氨基酸未发生改变221V>V,为同义突变。结论铁过载在新诊断T2DM患者中有一定发病率,原因可能并非SLC40A1基因突变所致,有待进一步研究。 Objective To investigate the incidence of iron overload （liver biopsy tissue Prussian blue staining was positive）in newly diagnosed type 2 diabetic patients （T2DM） and to analyze the SLC40A1 gene （NO_009027.1） mutation in 12 newly diagnosed T2DM with iron overload. Methods 198 patients with newly diagnosed T2DM were collected in our hospital from December 2014 to December 2015. 12 of them had elevated ferritin and liver biopsy tissue Prussian blue staining was positive. DNA was extracted from the paraffin section of liver tissue and the exons of SLCAOA1 gene were amplified by polymerase chain reaction （PCR）. The purified products were sequenced in two directions. Results The incidence of iron overload in these newly diagnosed T2DM patients was about 6%. One point mutation c. 663T〉C was found on the sixth exon region of SLC40A1 gene in all these 12 T2DM patients with iron overload. It＇s encoded amino acid did not change （221V〉V）, meaning a samesense mutation. Conclusion Iron overload has a certain incidence in patients with newly diagnosed T2DM. Iron overload may not due to the mutations in SLC40A1 ~ene. which need further investigation.

关 键 词： 铁过载 糖尿病 型