中文摘要：

目的 了解上海及其周边地区汉族特殊类型糖尿病人群中肝细胞核因子1β（HNF-1β）基因大片段缺失、重复的发生情况.方法 选取2003年1月至2006年12月在上海市糖尿病研究所住院治疗的糖尿病患者104例,其中男74例,女30例,平均年龄（65±14）岁.患者酪氨酸磷酸酶样蛋白抗体和谷氨酸脱羧酶65抗体检测阴性,并且存在肾脏结构异常或肾功能受损.剔除其中3例存在HNF-1β基因点突变患者.其余101例患者应用多重链接探针扩增技术进行HNF-1β基因大片段缺失、重复筛查.结果 在1例多发肾囊肿伴右肾发育不全、双子宫、胰腺体尾部萎缩的患者中见到HNF-1β整个基因杂合性缺失.结论 HNF-1β基因大片段缺失在中国上海及其周边地区汉族特殊类型糖尿病人群中发生率较低,约占临床疑似HNF-1β基因突变糖尿病表现人群的1％,且大片段杂合性缺失患者的临床表现与点突变携带者相似.

英文摘要：

Objective To investigate the prevalence of large genomic deletions and duplications in the hepatocyte nuclear factor 1β（HNF-1β） gene in patients presented with a clinical phenotype consistent with maturity onset diabetes of the young type 5（MODY5） in Shanghai and nearby regions.Methods A total of 104 diabetic patients （74 males and 30 females,aged （65± 14） years） with renal structural abnormalities and/or non-diabetic renal dysfunction were recruited from January 2003 to December 2006 inpatient database of Shanghai Diabetes Institute.Three patients carrying HNF-1β gene mutations were excluded from the study.One hundred and one patients without mutations were screened for large genomic deletions and duplications in the HNF-1β gene by multiplex ligation-dependent probe amplification（MLPA）.Results A heterozygous whole HNF-1β gene deletion was found in one patient who had renal cysts,renal dysplasia,uterus didelphys and pancreatic atrophy.Conclusion The prevalence of large genomic deletions in the HNF-1β gene in patients presented with a clinical phenotype consistent with MODY5 in shanghai and nearby regions is about 1%.Carriers of point mutations and the carrier of large genomic deletion have similar clinical features.